Description
Usher syndrome 1C (autosomal recessive, severe) [Source:HGNC Symbol;Acc:12597]
Gene Synonyms
AIE-75, AIE75, DFNB18, DFNB18A, NY-CO-37, NY-CO-38, PDZ-45, PDZ-73, PDZ-73/NY-CO-38, PDZ73, PDZD7C, harmonin, ush1cpst
Location
Chromosome 11: 17,515,442-17,565,963 reverse strand.
GRCh37:CM000673.1
About this gene
This gene has 10 transcripts (splice variants), 2 paralogues and is associated with 6 phenotypes.
Transcripts
Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
---|---|---|---|---|---|---|---|---|---|
ENST00000005226.7 | USH1C-006 | 2700 | 899aa | ENSP00000005226.7 | Protein coding | CCDS7825 | Q9Y6N9 | NM_153676.3 | GENCODE basic, |
ENST00000527720.1 | USH1C-005 | 2278 | 521aa | ENSP00000432944.1 | Protein coding | Q9Y6N9 | - | GENCODE basic, | |
ENST00000318024.4 | USH1C-001 | 2237 | 552aa | ENSP00000317018.4 | Protein coding | CCDS31438 | Q9Y6N9 | NM_005709.3 | GENCODE basic, |
ENST00000527020.1 | USH1C-003 | 2159 | 533aa | ENSP00000436934.1 | Protein coding | Q9Y6N9 | - | GENCODE basic, | |
ENST00000526181.1 | USH1C-008 | 1040 | 317aa | ENSP00000437128.1 | Protein coding | E9PNW1 | - | CDS 3' incomplete, | |
ENST00000526313.1 | USH1C-002 | 2149 | 403aa | ENSP00000432236.1 | Nonsense mediated decay | Q9Y6N9 | - | - | |
ENST00000529563.1 | USH1C-009 | 942 | No protein | - | Processed transcript | - | - | - | |
ENST00000530700.1 | USH1C-011 | 403 | No protein | - | Processed transcript | - | - | - | |
ENST00000527551.1 | USH1C-010 | 371 | No protein | - | Retained intron | - | - | - | |
ENST00000534556.1 | USH1C-012 | 244 | No protein | - | Retained intron | - | - | - |