Description
Wolf-Hirschhorn syndrome candidate 1 [Source:HGNC Symbol;Acc:12766]
Gene Synonyms
KIAA1090, MMSET, NSD2, REIIBP, TRX5, WHS
Location
Chromosome 4: 1,873,151-1,983,934 forward strand.
GRCh37:CM000666.1
About this gene
This gene has 27 transcripts (splice variants), 12 paralogues and is associated with 80 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000503128.1 | WHSC1-004 | 8568 | 647aa | ENSP00000425761.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS3356 | D6R9V2 D6RFE7 D6RIS1 O96028 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000398261.1 | WHSC1-203 | 8390 | 647aa | ENSP00000381311.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS3356 | D6R9V2 D6RFE7 D6RIS1 O96028 | NM_133334.2 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000382895.3 | WHSC1-008 | 7827 | 1365aa | ENSP00000372351.3 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS33940 | D6R9V2 D6RFE7 D6RIS1 O96028 | NM_133330.2 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000382892.2 | WHSC1-202 | 7706 | 1365aa | ENSP00000372348.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS33940 | D6R9V2 D6RFE7 D6RIS1 O96028 | NM_133331.2 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000382891.5 | WHSC1-201 | 7534 | 1365aa | ENSP00000372347.5 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS33940 | D6R9V2 D6RFE7 D6RIS1 O96028 | NM_133335.3 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000420906.2 | WHSC1-006 | 5109 | 629aa | ENSP00000399251.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS46999 | D6R9V2 D6RFE7 D6RIS1 O96028 Q05CW4 | NM_007331.1 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000508803.1 | WHSC1-011 | 4251 | 1365aa | ENSP00000423972.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS33940 | D6R9V2 D6RFE7 D6RIS1 O96028 | NM_001042424.2 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000514045.1 | WHSC1-010 | 3964 | 629aa | ENSP00000421681.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS46999 | D6R9V2 D6RFE7 D6RIS1 O96028 Q05CW4 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000382888.3 | WHSC1-005 | 2666 | 713aa | ENSP00000372344.3 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | O96028 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000436793.1 | WHSC1-204 | 1316 | 273aa | ENSP00000416725.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | D6RFE7 D6RIS1 O96028 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000509115.1 | WHSC1-015 | 1212 | 392aa | ENSP00000422878.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | D6R9V2 D6RFE7 D6RIS1 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000514329.1 | WHSC1-024 | 851 | 284aa | ENSP00000425094.1 | 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, | |
| ENST00000515806.1 | WHSC1-014 | 816 | 199aa | ENSP00000427434.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | D6RFE7 D6RIS1 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000507820.1 | WHSC1-013 | 528 | 37aa | ENSP00000421551.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | D6RFE7 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000312087.6 | WHSC1-007 | 8050 | 647aa | ENSP00000308780.6 | Nonsense mediated decay | CCDS3356 | D6R9V2 D6RFE7 D6RIS1 O96028 | - | - |
| ENST00000353275.5 | WHSC1-002 | 7980 | 647aa | ENSP00000329167.5 | Nonsense mediated decay | CCDS3356 | D6R9V2 D6RFE7 D6RIS1 O96028 | - | - |
| ENST00000512700.1 | WHSC1-012 | 1095 | 273aa | ENSP00000427516.1 | Nonsense mediated decay | D6RFE7 D6RIS1 O96028 | - | - | |
| ENST00000511904.1 | WHSC1-016 | 690 | 163aa | ENSP00000424482.1 | Nonsense mediated decay | H0Y9L4 | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000482415.2 | WHSC1-003 | 3602 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000505643.1 | WHSC1-022 | 990 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000503207.1 | WHSC1-021 | 812 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000513726.1 | WHSC1-017 | 648 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000502425.1 | WHSC1-023 | 421 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000508355.1 | WHSC1-009 | 2092 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000508299.1 | WHSC1-019 | 592 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000515695.1 | WHSC1-018 | 571 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000507094.1 | WHSC1-020 | 563 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |
