Description
retinoblastoma binding protein 8 [Source:HGNC Symbol;Acc:9891]
Gene Synonyms
COM1, CTIP, CtIP, JWDS, RIM, SAE2, SCKL2
Location
Chromosome 18: 20,378,224-20,606,451 forward strand.
GRCh37:CM000680.1
About this gene
This gene has 16 transcripts (splice variants), 1 paralogue and is associated with 5 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000399722.2 | RBBP8-004 | 3293 | 897aa | ENSP00000382628.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS11875 | F6Q6H0 J3KSA4 J3QL93 J3QLH2 J3QLW6 J3QRM0 Q99708 | NM_203291.1 | A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000327155.5 | RBBP8-001 | 3288 | 897aa | ENSP00000323050.5 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS11875 | F6Q6H0 J3KSA4 J3QL93 J3QLH2 J3QLW6 J3QRM0 Q99708 | NM_002894.2 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000399725.2 | RBBP8-002 | 3260 | 867aa | ENSP00000382630.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS11874 | A8MTZ9 F6Q6H0 J3KSA4 J3QL93 J3QLW6 J3QRM0 Q99708 | NM_203292.1 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000360790.5 | RBBP8-005 | 2962 | 902aa | ENSP00000354024.5 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | F6Q6H0 I6L8A6 J3KSA4 J3QL93 J3QLH2 J3QLW6 J3QRM0 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000399721.2 | RBBP8-003 | 2229 | 580aa | ENSP00000382627.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | F6Q6H0 J3KSA4 J3QL93 J3QLW6 J3QRM0 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000583057.1 | RBBP8-015 | 1195 | 324aa | ENSP00000464691.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | J3QSH7 | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000582354.1 | RBBP8-008 | 1019 | 205aa | ENSP00000463738.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | J3KSA4 J3QL93 J3QLW6 J3QRM0 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000581687.1 | RBBP8-016 | 617 | 75aa | ENSP00000463544.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | J3QLH2 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000577588.1 | RBBP8-009 | 578 | 29aa | ENSP00000464284.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | J3QRM0 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000581819.1 | RBBP8-010 | 574 | 84aa | ENSP00000463439.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | J3KSA4 J3QL93 J3QRM0 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000583700.1 | RBBP8-011 | 564 | 10aa | ENSP00000464628.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | - | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000583594.1 | RBBP8-012 | 545 | 56aa | ENSP00000463908.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | J3QQU9 J3QRM0 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000579124.1 | RBBP8-007 | 543 | 64aa | ENSP00000462390.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | J3KSA4 J3QRM0 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000577445.1 | RBBP8-017 | 480 | 160aa | ENSP00000463310.1 | 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, | |
| ENST00000585177.1 | RBBP8-014 | 606 | 45aa | ENSP00000477396.1 | Nonsense mediated decay | - | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000580892.1 | RBBP8-013 | 566 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |
