Human (GRCh38.p14)
Description

MKS transition zone complex subunit 1 [Source:HGNC Symbol;Acc:HGNC:7121]

Gene Synonyms

BBS13, FLJ20345, MKS, POC12

Location

Chromosome 17: 58,205,441-58,219,605 reverse strand.

GRCh38:CM000679.2

About this gene

This gene has 34 transcripts (splice variants), 210 orthologues, 2 paralogues and is associated with 8 phenotypes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
ENST00000393119.7MKS1-2022343559aaENSP00000376827.2
 
Protein coding
CCDS11603Q9NXB0-1 NM_017777.4MANE SelectEnsembl CanonicalGENCODE basicAPPRIS P1TSL:1
ENST00000678463.1MKS1-2282260561aaENSP00000502984.1
 
Protein coding
CCDS92364A0A7I2V2M0 -GENCODE basic
ENST00000676787.1MKS1-2142214516aaENSP00000503999.1
 
Protein coding
A0A7I2V4C1 -GENCODE basic
ENST00000313863.11MKS1-2012126456aaENSP00000316631.6
 
Protein coding
CCDS82170H0Y2S2 -GENCODE basicTSL:5
ENST00000537529.7MKS1-2042083416aaENSP00000442096.3
 
Protein coding
A0A0S2Z5Z2 -GENCODE basicTSL:1
ENST00000585134.2MKS1-2121626470aaENSP00000463826.2
 
Protein coding
J3QQP4 -GENCODE basicTSL:2
ENST00000580127.6MKS1-2081467432aaENSP00000462423.2
 
Protein coding
CCDS92365J3KSC6 -GENCODE basicTSL:5
ENST00000581761.6MKS1-2101289343aaENSP00000462129.2
 
Protein coding
J3KRR3 -GENCODE basicTSL:3
ENST00000577824.5MKS1-2051158228aaENSP00000462460.1
 
Protein coding
J3KSF4 -TSL:5CDS 5' incomplete
ENST00000581180.2MKS1-2091040154aaENSP00000502288.1
 
Protein coding
A0A6Q8PGJ4 -GENCODE basicTSL:2
ENST00000677111.1MKS1-2172771317aaENSP00000504282.1
 
Nonsense mediated decay
A0A7I2V561 --
ENST00000678432.1MKS1-2272558146aaENSP00000504452.1
 
Nonsense mediated decay
A0A6Q8PG98 --
ENST00000677546.1MKS1-2222470142aaENSP00000504043.1
 
Nonsense mediated decay
A0A7I2YQA3 --
ENST00000675753.2MKS1-2132403146aaENSP00000502156.1
 
Nonsense mediated decay
A0A6Q8PG98 --
ENST00000678641.1MKS1-2312116142aaENSP00000503159.1
 
Nonsense mediated decay
A0A7I2YQA3 --
ENST00000678568.1MKS1-2302023121aaENSP00000504754.1
 
Nonsense mediated decay
A0A7I2V6A2 --
ENST00000677486.1MKS1-221196090aaENSP00000503852.1
 
Nonsense mediated decay
A0A7I2V4A2 --
ENST00000393120.6MKS1-2031926164aaENSP00000376828.2
 
Nonsense mediated decay
J9PBQ5 -TSL:2
ENST00000676975.1MKS1-215139641aaENSP00000503970.1
 
Nonsense mediated decay
A0A7I2V4E1 -CDS 5' incomplete
ENST00000578789.1MKS1-20656848aaENSP00000462411.1
 
Nonsense mediated decay
J3KSB7 -TSL:4
ENST00000678481.1MKS1-2291364No protein-
 
Protein coding CDS not defined
---
ENST00000677791.1MKS1-224586No protein-
 
Protein coding CDS not defined
---
ENST00000678211.1MKS1-2264123No protein-
 
Retained intron
---
ENST00000679081.1MKS1-2344096No protein-
 
Retained intron
---
ENST00000677416.1MKS1-2193639No protein-
 
Retained intron
---
ENST00000677160.1MKS1-2183592No protein-
 
Retained intron
---
ENST00000677475.1MKS1-2203487No protein-
 
Retained intron
---
ENST00000678011.1MKS1-2253218No protein-
 
Retained intron
---
ENST00000678928.1MKS1-2333160No protein-
 
Retained intron
---
ENST00000677709.1MKS1-2233018No protein-
 
Retained intron
---
ENST00000677076.1MKS1-2162810No protein-
 
Retained intron
---
ENST00000678763.1MKS1-2322633No protein-
 
Retained intron
---
ENST00000583577.1MKS1-211697No protein-
 
Retained intron
--TSL:2
ENST00000579358.1MKS1-207567No protein-
 
Retained intron
--TSL:4