Description
tetratricopeptide repeat domain 8 [Source:HGNC Symbol;Acc:20087]
Gene Synonyms
BBS8, RP51
Location
Chromosome 14: 89,290,497-89,344,335 forward strand.
GRCh37:CM000676.1
About this gene
This gene has 15 transcripts (splice variants), 1 paralogue and is associated with 9 phenotypes.
Transcripts
Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
---|---|---|---|---|---|---|---|---|---|
ENST00000338104.6 | TTC8-005 | 2226 | 531aa | ENSP00000337653.6 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | B3KSL8 Q8TAM2 | NM_001288781.1 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
ENST00000345383.5 | TTC8-001 | 2183 | 505aa | ENSP00000339486.5 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS9885 | B3KSL8 Q8TAM2 | NM_198309.2 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
ENST00000380656.2 | TTC8-008 | 2171 | 515aa | ENSP00000370031.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS32137 | B3KSL8 Q8TAM2 | NM_144596.2 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
ENST00000536576.1 | TTC8-202 | 2139 | 276aa | ENSP00000445067.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | B3KSL8 | NM_001288783.1 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
ENST00000346301.4 | TTC8-006 | 2058 | 475aa | ENSP00000298324.6 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS9886 | B3KSL8 Q8TAM2 | NM_198310.2 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
ENST00000554686.1 | TTC8-010 | 1859 | 437aa | ENSP00000452354.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | - | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
ENST00000358622.5 | TTC8-201 | 1531 | 317aa | ENSP00000351439.5 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | B3KSL8 Q8TAM2 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
ENST00000354441.6 | TTC8-007 | 1342 | 250aa | ENSP00000346427.6 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | Q8TAM2 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
ENST00000557580.1 | TTC8-013 | 794 | 265aa | ENSP00000451955.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | - | - | 5' and 3' truncations in transcript evidence prevent annotation of the start and the end of the CDS.CDS 5' and 3' incomplete, | |
ENST00000556651.1 | TTC8-012 | 599 | 192aa | ENSP00000450993.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | G3V324 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
ENST00000555057.1 | TTC8-009 | 2113 | 186aa | ENSP00000450951.1 | Nonsense mediated decay | G3V2Z9 | - | - | |
ENST00000556077.1 | TTC8-003 | 1020 | 211aa | ENSP00000451034.1 | Nonsense mediated decay | Q86U25 | - | - | |
ENST00000553718.1 | TTC8-011 | 479 | 41aa | ENSP00000450905.1 | Nonsense mediated decay | G3V2W6 | - | - | |
ENST00000556567.1 | TTC8-004 | 943 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
ENST00000556133.1 | TTC8-014 | 607 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |