Description
Meckel syndrome, type 1 [Source:HGNC Symbol;Acc:7121]
Gene Synonyms
BBS13, FLJ20345, MES, MKS, POC12
Location
Chromosome 17: 56,282,803-56,296,966 reverse strand.
GRCh37:CM000679.1
About this gene
This gene has 15 transcripts (splice variants) and is associated with 8 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000393119.2 | MKS1-003 | 2392 | 559aa | ENSP00000376827.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS11603 | F5H5Y8 Q9NXB0 | NM_017777.3 | 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, |
| ENST00000313863.6 | MKS1-002 | 2091 | 456aa | ENSP00000316631.6 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | H0Y2S2 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000537529.2 | MKS1-001 | 2083 | 549aa | ENSP00000442096.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS54148 | F5H5Y8 Q9NXB0 | NM_001165927.1 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000546108.1 | MKS1-202 | 1926 | 356aa | ENSP00000443012.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | F5H5Y8 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000337050.7 | MKS1-201 | 1576 | 521aa | ENSP00000338407.7 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | A8MPP8 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000577824.1 | MKS1-012 | 1158 | 228aa | ENSP00000462460.1 | 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, | |
| ENST00000585134.1 | MKS1-010 | 824 | 211aa | ENSP00000463826.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | J3QQP4 | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000577315.1 | MKS1-011 | 495 | 117aa | ENSP00000462179.1 | 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, | |
| ENST00000393120.2 | MKS1-004 | 1926 | 164aa | ENSP00000376828.2 | Nonsense mediated decay | J9PBQ5 | - | - | |
| ENST00000580127.1 | MKS1-008 | 843 | 146aa | ENSP00000462423.1 | Nonsense mediated decay | J3KSC6 | - | - | |
| ENST00000581761.1 | MKS1-007 | 812 | 121aa | ENSP00000462129.1 | Nonsense mediated decay | J3KRR3 | - | - | |
| ENST00000578789.1 | MKS1-005 | 568 | 48aa | ENSP00000462411.1 | Nonsense mediated decay | J3KSB7 | - | - | |
| ENST00000581180.1 | MKS1-006 | 899 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000583577.1 | MKS1-013 | 697 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000579358.1 | MKS1-009 | 567 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |
