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IFT57P1 IFT57 pseudogene 1 [ Homo sapiens (human) ]

Gene ID: 100129646, updated on 10-Dec-2024

Summary

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Official Symbol
IFT57P1provided by HGNC
Official Full Name
IFT57 pseudogene 1provided by HGNC
Primary source
HGNC:HGNC:56830
See related
AllianceGenome:HGNC:56830
Gene type
pseudo
RefSeq status
INFERRED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
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Genomic context

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See IFT57P1 in Genome Data Viewer
Location:
12p11.22
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (28165235..28165849)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (28037336..28037950)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (28318168..28318782)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:28121815-28122325 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:28122326-28122835 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:28128050-28128738 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:28128739-28129427 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_27213 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_27218 Neighboring gene MPRA-validated peak1634 silencer Neighboring gene parathyroid hormone like hormone Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr12:28175972-28177171 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:28180270-28180494 Neighboring gene uncharacterized LOC105369710 Neighboring gene uncharacterized LOC107984462 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr12:28283226-28284425 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_27297 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_27323 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4315 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4316 Neighboring gene Sharpr-MPRA regulatory region 4473 Neighboring gene MPRA-validated peak1636 silencer Neighboring gene uncharacterized LOC729291 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_27354 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_27355 Neighboring gene coiled-coil domain containing 91 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6154 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6155 Neighboring gene MPRA-validated peak1637 silencer Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_27393 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_27419 Neighboring gene RNA, U4 small nuclear 54, pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. Genetic variants associated with breast size also influence breast cancer risk. Eriksson N, et al. BMC Med Genet, 2012 Jun 30. PMID 22747683, Free PMC Article

GeneRIFs: Gene References Into Functions

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genetic variants associated with breast size also influence breast cancer risk.
EBI GWAS Catalog

Variation

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See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

General gene information

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Other Names

  • intraflagellar transport 57 homolog pseudogene

NCBI Reference Sequences (RefSeq)

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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

  1. NG_021709.2 

    Range
    95..709
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    28165235..28165849
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    28037336..28037950
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

Gene LinkOut

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