MYB MYB proto-oncogene, transcription factor [Homo sapiens (human)] - Gene

Summary

Official Symbol: MYBprovided by HGNC
Official Full Name: MYB proto-oncogene, transcription factorprovided by HGNC
Primary source: HGNC:HGNC:7545
See related: Ensembl:ENSG00000118513 MIM:189990; AllianceGenome:HGNC:7545
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: efg; Cmyb; c-myb; c-myb_CDS
Summary: This gene encodes a protein with three HTH DNA-binding domains that functions as a transcription regulator. This protein plays an essential role in the regulation of hematopoiesis. This gene may be aberrently expressed or rearranged or undergo translocation in leukemias and lymphomas, and is considered to be an oncogene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
Expression: Biased expression in bone marrow (RPKM 21.6), colon (RPKM 12.6) and 7 other tissues See more
Orthologs: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 6q23.3

Exon count:: 20

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (135181308..135219172)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (136369551..136407418)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (135502446..135540310)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Proto-oncogene c-Myb potentiates cisplatin resistance of ovarian cancer cells by downregulating lncRNA NKILA and modulating cancer stemness and LIN28A-let7 axis.
Title: Proto-oncogene c-Myb potentiates cisplatin resistance of ovarian cancer cells by downregulating lncRNA NKILA and modulating cancer stemness and LIN28A-let7 axis.
hnRNPA0 promotes MYB expression by interacting with enhancer lncRNA MY34UE-AS in human leukemia cells.
Title: hnRNPA0 promotes MYB expression by interacting with enhancer lncRNA MY34UE-AS in human leukemia cells.
Adenoid cystic carcinoma of the Bartholin's gland is underpinned by MYB- and MYBL1- rearrangements.
Title: Adenoid cystic carcinoma of the Bartholin's gland is underpinned by MYB- and MYBL1- rearrangements.
lncRNA SNHG4 inhibits ferroptosis by orchestrating miR-150-5p/c-Myb axis in colorectal cancer.
Title: lncRNA SNHG4 inhibits ferroptosis by orchestrating miR-150-5p/c-Myb axis in colorectal cancer.
From modulation of cellular plasticity to potentiation of therapeutic resistance: new and emerging roles of MYB transcription factors in human malignancies.
Title: From modulation of cellular plasticity to potentiation of therapeutic resistance: new and emerging roles of MYB transcription factors in human malignancies.
MYB alternative promoter activity is increased in adenoid cystic carcinoma metastases and is associated with a specific gene expression signature.
Title: MYB alternative promoter activity is increased in adenoid cystic carcinoma metastases and is associated with a specific gene expression signature.
MYB/LINC00092 regulatory axis promotes the progression of papillary thyroid carcinoma.
Title: MYB/LINC00092 regulatory axis promotes the progression of papillary thyroid carcinoma.
The mitotic checkpoint kinase BUB1 is a direct and actionable target of MYB in adenoid cystic carcinoma.
Title: The mitotic checkpoint kinase BUB1 is a direct and actionable target of MYB in adenoid cystic carcinoma.
Solid-Basaloid Adenoid Cystic Carcinoma of the Breast: An Aggressive Subtype Enriched for Notch Pathway and Chromatin Modifier Mutations With MYB Overexpression.
Title: Solid-Basaloid Adenoid Cystic Carcinoma of the Breast: An Aggressive Subtype Enriched for Notch Pathway and Chromatin Modifier Mutations With MYB Overexpression.
Reversal of MYB-dependent suppression of MAFB expression overrides leukaemia phenotype in MLL-rearranged AML.
Title: Reversal of MYB-dependent suppression of MAFB expression overrides leukaemia phenotype in MLL-rearranged AML.

Submit: New GeneRIF Correction See all GeneRIFs (255)

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects. EBI GWAS Catalog EBI GWAS CatalogPubMed
A genome-wide association identified the common genetic variants influence disease severity in beta0-thalassemia/hemoglobin E. EBI GWAS Catalog EBI GWAS CatalogPubMed
A genome-wide association study of red blood cell traits using the electronic medical record. EBI GWAS Catalog EBI GWAS CatalogPubMed
A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium. EBI GWAS Catalog EBI GWAS CatalogPubMed
A meta-analysis and genome-wide association study of platelet count and mean platelet volume in african americans. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome wide association analysis of a founder population identified TAF3 as a gene for MCHC in humans. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome wide association study of fetal hemoglobin in sickle cell anemia in Tanzania. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of hematological and biochemical traits in a Japanese population. EBI GWAS Catalog EBI GWAS CatalogPubMed
GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children. EBI GWAS Catalog EBI GWAS CatalogPubMed
HbA2 levels in normal adults are influenced by two distinct genetic mechanisms. EBI GWAS Catalog EBI GWAS CatalogPubMed
Identification of nine novel loci associated with white blood cell subtypes in a Japanese population. EBI GWAS Catalog EBI GWAS CatalogPubMed
Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. EBI GWAS Catalog EBI GWAS CatalogPubMed
Multiple nonglycemic genomic loci are newly associated with blood level of glycated hemoglobin in East Asians. EBI GWAS Catalog EBI GWAS CatalogPubMed
New gene functions in megakaryopoiesis and platelet formation. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed
Sequence variants in three loci influence monocyte counts and erythrocyte volume. EBI GWAS Catalog EBI GWAS CatalogPubMed
Variation at 3p24.1 and 6q23.3 influences the risk of Hodgkin's lymphoma. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

MYB_951 (e-PCR)
- UniSTS:277516

MYB_V226 (e-PCR)
- UniSTS:277516

D6S1837 (e-PCR)
- UniSTS:44817

RH71005 (e-PCR)
- UniSTS:42784

D6S1431 (e-PCR)
- UniSTS:26919

D11S2560 (e-PCR)
- UniSTS:37928

D8S2279 (e-PCR)
- UniSTS:473907

PMC20354P3 (e-PCR)
- UniSTS:271936

SHGC-82387 (e-PCR)
- UniSTS:104534

SHGC-106007 (e-PCR)
- UniSTS:169580

D15S1477 (e-PCR)
- UniSTS:474482

RH18093 (e-PCR)
- UniSTS:48765

PMC140821P4 (e-PCR)
- UniSTS:270978

D11Bir11 (e-PCR), detects polymorphism
- UniSTS:141709

D11Bir7 (e-PCR), detects polymorphism
- UniSTS:141711

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in T-helper 2 cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to hydrogen peroxide	IEA Inferred from Electronic Annotation more info
involved_in cellular response to retinoic acid	IEA Inferred from Electronic Annotation more info
involved_in erythrocyte differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitotic cell cycle	IBA Inferred from Biological aspect of Ancestor more info
involved_in myeloid cell development	NAS Non-traceable Author Statement more info	PubMed
involved_in negative regulation of DNA-templated transcription	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of hematopoietic progenitor cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of megakaryocyte differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of DNA-templated transcription	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of DNA-templated transcription	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of collagen biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of glial cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of hepatic stellate cell activation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of hepatic stellate cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of miRNA transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of neuron apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of smooth muscle cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of testosterone secretion	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of transcription by RNA polymerase II	EXP Inferred from Experiment more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of transforming growth factor beta production	IEA Inferred from Electronic Annotation more info
involved_in regulation of DNA-templated transcription	NAS Non-traceable Author Statement more info	PubMed
involved_in response to hypoxia	IEA Inferred from Electronic Annotation more info
involved_in response to ischemia	IEA Inferred from Electronic Annotation more info
involved_in skeletal muscle cell proliferation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of RNA polymerase II transcription regulator complex	EXP Inferred from Experiment more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in nuclear matrix	NAS Non-traceable Author Statement more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	NAS Non-traceable Author Statement more info	PubMed

General protein information

Go to the top of the page Help

Preferred Names: transcriptional activator Myb

Names: MYB-GATA1 fusion protein; oncogene AMV; proto-oncogene c-Myb; v-myb avian myeloblastosis viral oncogene homolog

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_012330.1 RefSeqGene

Range

4994..42858

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001130172.2 → NP_001123644.1 transcriptional activator Myb isoform 3

See identical proteins and their annotated locations for NP_001123644.1

Status: REVIEWED

Description

Transcript Variant: This variant (3, also known as 8) uses an alternate in-frame splice site and lacks an in-frame exon compared to variant 1. The resulting isoform (3) is shorter than isoform 1.

Source sequence(s)

AJ606320, AL023693, D25774

Consensus CDS

CCDS47482.1

UniProtKB/TrEMBL

Q708J0

Related

ENSP00000410825.2, ENST00000442647.7

Conserved Domains (4) summary

smart00717
Location:92 → 140

SANT; SANT SWI3, ADA2, N-CoR and TFIIIB'' DNA-binding domains

pfam00249
Location:92 → 138

Myb_DNA-binding; Myb-like DNA-binding domain

pfam07988
Location:269 → 313

LMSTEN; LMSTEN motif

pfam09316
Location:398 → 559

Cmyb_C; C-myb, C-terminal
NM_001130173.2 → NP_001123645.1 transcriptional activator Myb isoform 1

See identical proteins and their annotated locations for NP_001123645.1

Status: REVIEWED

Description

Transcript Variant: This variant (1, also known as 9Aii) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AJ606319, AL023693, D25774

Consensus CDS

CCDS47481.1

UniProtKB/TrEMBL

Q708J0

Related

ENSP00000339992.5, ENST00000341911.10

Conserved Domains (4) summary

smart00717
Location:92 → 140

SANT; SANT SWI3, ADA2, N-CoR and TFIIIB'' DNA-binding domains

pfam00249
Location:92 → 138

Myb_DNA-binding; Myb-like DNA-binding domain

pfam07988
Location:269 → 313

LMSTEN; LMSTEN motif

pfam09316
Location:518 → 683

Cmyb_C; C-myb, C-terminal
NM_001161656.2 → NP_001155128.1 transcriptional activator Myb isoform 4

Status: REVIEWED

Description

Transcript Variant: This variant (4, also known as E8SE9B) uses an alternate in-frame splice site compared to variant 1. The resulting isoform (4) is shorter than isoform 1.

Source sequence(s)

AL023693

Consensus CDS

CCDS55058.1

UniProtKB/TrEMBL

Q708J0

Related

ENSP00000434723.1, ENST00000528774.5

Conserved Domains (4) summary

smart00717
Location:92 → 140

SANT; SANT SWI3, ADA2, N-CoR and TFIIIB'' DNA-binding domains

pfam00249
Location:92 → 138

Myb_DNA-binding; Myb-like DNA-binding domain

pfam07988
Location:269 → 313

LMSTEN; LMSTEN motif

pfam09316
Location:515 → 680

Cmyb_C; C-myb, C-terminal
NM_001161657.2 → NP_001155129.1 transcriptional activator Myb isoform 5

Status: REVIEWED

Description

Transcript Variant: This variant (5, also known as DelE9) lacks two alternate in-frame exons compared to variant 1. The resulting isoform (5) is shorter than isoform 1.

Source sequence(s)

AL023693

Consensus CDS

CCDS55061.1

UniProtKB/TrEMBL

Q708J0

Related

ENSP00000435938.1, ENST00000525369.5

Conserved Domains (4) summary

smart00717
Location:92 → 140

SANT; SANT SWI3, ADA2, N-CoR and TFIIIB'' DNA-binding domains

pfam00249
Location:92 → 138

Myb_DNA-binding; Myb-like DNA-binding domain

pfam07988
Location:269 → 313

LMSTEN; LMSTEN motif

pfam09316
Location:317 → 477

Cmyb_C; C-myb, C-terminal
NM_001161658.2 → NP_001155130.1 transcriptional activator Myb isoform 6

Status: REVIEWED

Description

Transcript Variant: This variant (6, also known as E9S-48E9B) uses an alternate in-frame splice site compared to variant 1. The resulting isoform (6) is shorter than isoform 1.

Source sequence(s)

AL023693

Consensus CDS

CCDS55059.1

UniProtKB/TrEMBL

Q708J0

Related

ENSP00000432851.1, ENST00000534121.5

Conserved Domains (4) summary

smart00717
Location:92 → 140

SANT; SANT SWI3, ADA2, N-CoR and TFIIIB'' DNA-binding domains

pfam00249
Location:92 → 138

Myb_DNA-binding; Myb-like DNA-binding domain

pfam07988
Location:269 → 313

LMSTEN; LMSTEN motif

pfam09316
Location:502 → 667

Cmyb_C; C-myb, C-terminal
NM_001161659.2 → NP_001155131.1 transcriptional activator Myb isoform 7

Status: REVIEWED

Description

Transcript Variant: This variant (7, also known as DelE13) lacks two alternate in-frame exons compared to variant 1. The resulting isoform (7) is shorter than isoform 1.

Source sequence(s)

AL023693

Consensus CDS

CCDS55060.1

UniProtKB/TrEMBL

Q708J0

Related

ENSP00000435055.1, ENST00000534044.5

Conserved Domains (4) summary

smart00717
Location:92 → 140

SANT; SANT SWI3, ADA2, N-CoR and TFIIIB'' DNA-binding domains

pfam00249
Location:92 → 138

Myb_DNA-binding; Myb-like DNA-binding domain

pfam07988
Location:269 → 313

LMSTEN; LMSTEN motif

pfam09316
Location:401 → 530

Cmyb_C; C-myb, C-terminal
NM_001161660.2 → NP_001155132.1 transcriptional activator Myb isoform 8

Status: REVIEWED

Description

Transcript Variant: This variant (8, also known as DelE8) lacks two alternate in-frame exons compared to variant 1. The resulting isoform (8) is shorter than isoform 1.

Source sequence(s)

AL023693

Consensus CDS

CCDS55062.1

UniProtKB/TrEMBL

Q708J0

Related

ENSP00000436605.1, ENST00000533624.5

Conserved Domains (3) summary

smart00717
Location:92 → 140

SANT; SANT SWI3, ADA2, N-CoR and TFIIIB'' DNA-binding domains

pfam00249
Location:92 → 138

Myb_DNA-binding; Myb-like DNA-binding domain

pfam09316
Location:366 → 527

Cmyb_C; C-myb, C-terminal
NM_005375.4 → NP_005366.2 transcriptional activator Myb isoform 2

See identical proteins and their annotated locations for NP_005366.2

Status: REVIEWED

Description

Transcript Variant: This variant (2, also known as M15024) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) is shorter than isoform 1.

Source sequence(s)

AL023693, BC064955, D25774, X52125

Consensus CDS

CCDS5174.1

UniProtKB/Swiss-Prot

E9PI07, E9PLZ5, E9PNA4, E9PNL6, E9PRS2, P10242, P78391, P78392, P78525, P78526, Q14023, Q14024, Q708E4, Q708E7, Q9UE83

UniProtKB/TrEMBL

Q708E9, Q708J0

Related

ENSP00000356788.4, ENST00000367814.8

Conserved Domains (4) summary

pfam00249
Location:40 → 86

Myb_DNA-binding; Myb-like DNA-binding domain

pfam07988
Location:269 → 313

LMSTEN; LMSTEN motif

pfam09316
Location:401 → 563

Cmyb_C; C-myb, C-terminal

cl28544
Location:89 → 202

SANT; SANT SWI3, ADA2, N-CoR and TFIIIB'' DNA-binding domains

RNA

NR_134958.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (9, also known as E8A) contains an alternate exon and lacks an exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AJ606317, AL023693, D25774

Related

ENST00000525477.5
NR_134959.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (10, also known as E8SE8A) uses an alternate splice site, lacks an exon, and contains an alternate exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AJ606321, AL023693, D25774

Related

ENST00000463282.6
NR_134960.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (11, also known as E10A) lacks an exon and contains an alternate exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AJ606322, AL023693, D25774

Related

ENST00000339290.9
NR_134961.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (12, also known as E9A or 9Ai) lacks an exon and contains an alternate exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AJ606318, AL023693, D25774

Related

ENST00000533837.5
NR_134962.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (13, also known as DelE5E8A) lacks two exons and contains an alternate exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AJ606317, AJ606318, AL023693, AY787446, D25774, X52125
NR_134963.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (14, also known as E12L-1) lacks an exon and uses an alternate splice site compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AJ606317, AL023693, AY787451, D25774, X52125

Related

ENST00000616088.4
NR_134964.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (15, also known as E8SE10A) uses an alternate splice site, lacks an exon, and contains an alternate exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AJ606317, AL023693, AY787458, D25774

Related

ENST00000526889.5
NR_134965.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (16, also known as E8AE10A) lacks an exon and contains two alternate exons compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AJ606317, AL023693, AY787456, D25774

Related

ENST00000525514.5