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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.
mRNA and Protein(s)
-
NM_001100395.1 → NP_001093865.1 otoferlin isoform 1
See identical proteins and their annotated locations for NP_001093865.1
Status: VALIDATED
- Description
- Transcript Variant: This variant (1) contains multiple coding region differences resulting in different 3' coding region and 3' UTR, compared to variant 2. It encodes isoform 1, which is shorter and has a distinct C-terminus, compared to isoform 2.
- Source sequence(s)
-
AC157761, AK033317, AK046460, AK147256
- Consensus CDS
-
CCDS51452.1
- UniProtKB/TrEMBL
- A0A0R4J1K2, B7ZN98
- Related
- ENSMUSP00000110395.3, ENSMUST00000114747.9
- Conserved Domains (10) summary
-
- cd04011
Location:265 → 376
- C2B_Ferlin; C2 domain second repeat in Ferlin
- cd04017
Location:974 → 1111
- C2D_Ferlin; C2 domain fourth repeat in Ferlin
- cd04018
Location:432 → 581
- C2C_Ferlin; C2 domain third repeat in Ferlin
- cd04037
Location:1488 → 1611
- C2E_Ferlin; C2 domain fifth repeat in Ferlin
- cd08373
Location:3 → 130
- C2A_Ferlin; C2 domain first repeat in Ferlin
- cd08374
Location:1728 → 1861
- C2F_Ferlin; C2 domain sixth repeat in Ferlin
- pfam08150
Location:857 → 931
- FerB; FerB (NUC096) domain
- pfam08151
Location:374 → 424
- FerI; FerI (NUC094) domain
- pfam16165
Location:1871 → 1987
- Ferlin_C; Ferlin C-terminus
- cl14603
Location:1157 → 1234
- C2; C2 domain
-
NM_001286421.1 → NP_001273350.1 otoferlin isoform 3
Status: VALIDATED
- Description
- Transcript Variant: This variant (3) uses an alternate in-frame splice site in the 3' coding region, compared to variant 2. It encodes isoform 3, which is shorter than isoform 2.
- Source sequence(s)
-
AK033317, AK046460, AK147256
- UniProtKB/TrEMBL
-
B7ZN98
- Related
-
ENSMUST00000150734.8
- Conserved Domains (10) summary
-
- cd04011
Location:250 → 361
- C2B_Ferlin; C2 domain second repeat in Ferlin
- cd04017
Location:959 → 1096
- C2D_Ferlin; C2 domain fourth repeat in Ferlin
- cd04018
Location:417 → 566
- C2C_Ferlin; C2 domain third repeat in Ferlin
- cd04037
Location:1473 → 1596
- C2E_Ferlin; C2 domain fifth repeat in Ferlin
- cd08373
Location:3 → 130
- C2A_Ferlin; C2 domain first repeat in Ferlin
- cd08374
Location:1713 → 1846
- C2F_Ferlin; C2 domain sixth repeat in Ferlin
- pfam08150
Location:842 → 916
- FerB; FerB (NUC096) domain
- pfam08151
Location:359 → 409
- FerI; FerI (NUC094) domain
- pfam16165
Location:1856 → 1942
- Ferlin_C; Ferlin C-terminus
- cl14603
Location:1142 → 1219
- C2; C2 domain
-
NM_001313767.1 → NP_001300696.1 otoferlin isoform 4
Status: VALIDATED
- Description
- Transcript Variant: This variant (4) uses an alternate in-frame splice junction in the 3' end and lacks the penultimate exon compared to variant 2. It encodes isoform 4, which lacks an internal segment and has a shorter and distinct C-terminus compared to isoform 2.
- Source sequence(s)
-
AC157761, AC175379, AC242405
- UniProtKB/TrEMBL
- A0A2Z2CEU0, B7ZN98
- Conserved Domains (10) summary
-
- cd04011
Location:250 → 361
- C2B_Ferlin; C2 domain second repeat in Ferlin
- cd04017
Location:959 → 1096
- C2D_Ferlin; C2 domain fourth repeat in Ferlin
- cd04018
Location:417 → 566
- C2C_Ferlin; C2 domain third repeat in Ferlin
- cd04037
Location:1473 → 1596
- C2E_Ferlin; C2 domain fifth repeat in Ferlin
- cd08373
Location:3 → 130
- C2A_Ferlin; C2 domain first repeat in Ferlin
- cd08374
Location:1713 → 1846
- C2F_Ferlin; C2 domain sixth repeat in Ferlin
- pfam08150
Location:842 → 916
- FerB; FerB (NUC096) domain
- pfam08151
Location:359 → 409
- FerI; FerI (NUC094) domain
- pfam16165
Location:1856 → 1972
- Ferlin_C; Ferlin C-terminus
- cl14603
Location:1142 → 1219
- C2; C2 domain
-
NM_031875.2 → NP_114081.2 otoferlin isoform 2
Status: VALIDATED
- Description
- Transcript Variant: This variant (2) represents the longest transcript and encodes the longest isoform (2).
- Source sequence(s)
-
AC175379, AK033317, AK046460, AK147256
- Consensus CDS
-
CCDS19157.1
- UniProtKB/Swiss-Prot
- A3KLM3, B2RWU0, Q8CCE7, Q9ESF1, Q9ESF2
- UniProtKB/TrEMBL
-
E9PYR6
- Related
- ENSMUSP00000073803.7, ENSMUST00000074171.10
- Conserved Domains (9) summary
-
- cd04011
Location:250 → 361
- C2B_Ferlin; C2 domain second repeat in Ferlin
- cd04017
Location:959 → 1096
- C2D_Ferlin; C2 domain fourth repeat in Ferlin
- cd04018
Location:417 → 566
- C2C_Ferlin; C2 domain third repeat in Ferlin
- cd04037
Location:1493 → 1616
- C2E_Ferlin; C2 domain fifth repeat in Ferlin
- cd08373
Location:3 → 130
- C2A_Ferlin; C2 domain first repeat in Ferlin
- cd08374
Location:1733 → 1866
- C2F_Ferlin; C2 domain sixth repeat in Ferlin
- pfam08150
Location:842 → 916
- FerB; FerB (NUC096) domain
- pfam08151
Location:359 → 409
- FerI; FerI (NUC094) domain
- pfam16165
Location:1876 → 1994
- Ferlin_C; Ferlin C-terminus
The following sections contain reference sequences that belong to a
specific genome build. Explain
This section includes genomic Reference
Sequences (RefSeqs) from all assemblies on which this gene is annotated, such as
RefSeqs for chromosomes and scaffolds (contigs) from both reference and alternate
assemblies. Model RNAs and proteins are also reported here.
Reference GRCm39 C57BL/6J
Genomic
-
NC_000071.7 Reference GRCm39 C57BL/6J
- Range
-
30524410..30620073 complement
- Download
- GenBank, FASTA, Sequence Viewer (Graphics)
mRNA and Protein(s)
-
XM_006504206.4 → XP_006504269.1 otoferlin isoform X2
- UniProtKB/Swiss-Prot
- A3KLM3, B2RWU0, Q8CCE7, Q9ESF1, Q9ESF2
- Conserved Domains (9) summary
-
- cd04011
Location:250 → 361
- C2B_Ferlin; C2 domain second repeat in Ferlin
- cd04017
Location:959 → 1096
- C2D_Ferlin; C2 domain fourth repeat in Ferlin
- cd04018
Location:417 → 566
- C2C_Ferlin; C2 domain third repeat in Ferlin
- cd04037
Location:1493 → 1616
- C2E_Ferlin; C2 domain fifth repeat in Ferlin
- cd08373
Location:3 → 130
- C2A_Ferlin; C2 domain first repeat in Ferlin
- cd08374
Location:1733 → 1866
- C2F_Ferlin; C2 domain sixth repeat in Ferlin
- pfam08150
Location:842 → 916
- FerB; FerB (NUC096) domain
- pfam08151
Location:359 → 409
- FerI; FerI (NUC094) domain
- pfam16165
Location:1876 → 1994
- Ferlin_C; Ferlin C-terminus
-
XM_006504209.5 → XP_006504272.1 otoferlin isoform X5
- UniProtKB/Swiss-Prot
- A3KLM3, B2RWU0, Q8CCE7, Q9ESF1, Q9ESF2
- Conserved Domains (9) summary
-
- cd04011
Location:73 → 184
- C2B_Ferlin; C2 domain second repeat in Ferlin
- cd04017
Location:782 → 919
- C2D_Ferlin; C2 domain fourth repeat in Ferlin
- cd04018
Location:240 → 389
- C2C_Ferlin; C2 domain third repeat in Ferlin
- cd04037
Location:1316 → 1439
- C2E_Ferlin; C2 domain fifth repeat in Ferlin
- cd08374
Location:1556 → 1689
- C2F_Ferlin; C2 domain sixth repeat in Ferlin
- pfam08150
Location:665 → 739
- FerB; FerB (NUC096) domain
- pfam08151
Location:182 → 232
- FerI; FerI (NUC094) domain
- pfam16165
Location:1699 → 1817
- Ferlin_C; Ferlin C-terminus
- cl14603
Location:965 → 1042
- C2; C2 domain
-
XM_017321186.2 → XP_017176675.1 otoferlin isoform X3
- UniProtKB/Swiss-Prot
- A3KLM3, B2RWU0, Q8CCE7, Q9ESF1, Q9ESF2
- Conserved Domains (9) summary
-
- cd04011
Location:250 → 361
- C2B_Ferlin; C2 domain second repeat in Ferlin
- cd04017
Location:959 → 1096
- C2D_Ferlin; C2 domain fourth repeat in Ferlin
- cd04018
Location:417 → 566
- C2C_Ferlin; C2 domain third repeat in Ferlin
- cd04037
Location:1493 → 1616
- C2E_Ferlin; C2 domain fifth repeat in Ferlin
- cd08373
Location:3 → 130
- C2A_Ferlin; C2 domain first repeat in Ferlin
- cd08374
Location:1733 → 1866
- C2F_Ferlin; C2 domain sixth repeat in Ferlin
- pfam08150
Location:842 → 916
- FerB; FerB (NUC096) domain
- pfam08151
Location:359 → 409
- FerI; FerI (NUC094) domain
- pfam16165
Location:1876 → 1944
- Ferlin_C; Ferlin C-terminus
-
XM_017321185.2 → XP_017176674.1 otoferlin isoform X1
- UniProtKB/Swiss-Prot
- A3KLM3, B2RWU0, Q8CCE7, Q9ESF1, Q9ESF2
- UniProtKB/TrEMBL
-
E9PYR6
- Conserved Domains (9) summary
-
- cd04011
Location:250 → 361
- C2B_Ferlin; C2 domain second repeat in Ferlin
- cd04017
Location:959 → 1096
- C2D_Ferlin; C2 domain fourth repeat in Ferlin
- cd04018
Location:417 → 566
- C2C_Ferlin; C2 domain third repeat in Ferlin
- cd04037
Location:1493 → 1616
- C2E_Ferlin; C2 domain fifth repeat in Ferlin
- cd08373
Location:3 → 130
- C2A_Ferlin; C2 domain first repeat in Ferlin
- cd08374
Location:1733 → 1866
- C2F_Ferlin; C2 domain sixth repeat in Ferlin
- pfam08150
Location:842 → 916
- FerB; FerB (NUC096) domain
- pfam08151
Location:359 → 409
- FerI; FerI (NUC094) domain
- pfam16165
Location:1876 → 1994
- Ferlin_C; Ferlin C-terminus
-
XM_006504208.5 → XP_006504271.1 otoferlin isoform X4
- UniProtKB/Swiss-Prot
- A3KLM3, B2RWU0, Q8CCE7, Q9ESF1, Q9ESF2
- Conserved Domains (9) summary
-
- cd04011
Location:250 → 361
- C2B_Ferlin; C2 domain second repeat in Ferlin
- cd04017
Location:959 → 1096
- C2D_Ferlin; C2 domain fourth repeat in Ferlin
- cd04018
Location:417 → 566
- C2C_Ferlin; C2 domain third repeat in Ferlin
- cd04037
Location:1493 → 1616
- C2E_Ferlin; C2 domain fifth repeat in Ferlin
- cd08373
Location:3 → 130
- C2A_Ferlin; C2 domain first repeat in Ferlin
- cd08374
Location:1733 → 1866
- C2F_Ferlin; C2 domain sixth repeat in Ferlin
- pfam08150
Location:842 → 916
- FerB; FerB (NUC096) domain
- pfam08151
Location:359 → 409
- FerI; FerI (NUC094) domain
- pfam16165
Location:1876 → 1938
- Ferlin_C; Ferlin C-terminus
-
XM_011240802.3 → XP_011239104.1 otoferlin isoform X6
- Conserved Domains (6) summary
-
- cd04011
Location:250 → 361
- C2B_Ferlin; C2 domain second repeat in Ferlin
- cd04017
Location:959 → 1096
- C2D_Ferlin; C2 domain fourth repeat in Ferlin
- cd04018
Location:417 → 566
- C2C_Ferlin; C2 domain third repeat in Ferlin
- cd08373
Location:3 → 130
- C2A_Ferlin; C2 domain first repeat in Ferlin
- pfam08150
Location:842 → 916
- FerB; FerB (NUC096) domain
- pfam08151
Location:359 → 409
- FerI; FerI (NUC094) domain
RNA
-
XR_001784761.3 RNA Sequence
-
XR_376842.4 RNA Sequence
-
XR_376841.4 RNA Sequence