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 7 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 | 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 | - | - | - |
