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 68 phenotypes.
Transcripts
Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
---|---|---|---|---|---|---|---|---|---|
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 | 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, |
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, |
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 | - | - | - |