Human (GRCh38.p14)
Description

structural maintenance of chromosomes flexible hinge domain containing 1 [Source:HGNC Symbol;Acc:HGNC:29090]

Gene Synonyms

FSHD2, KIAA0650

Location

Chromosome 18: 2,655,726-2,805,017 forward strand.

GRCh38:CM000680.2

About this gene

This gene has 27 transcripts (splice variants), 226 orthologues and is associated with 5 phenotypes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
ENST00000320876.11SMCHD1-20188332005aaENSP00000326603.7
 
Protein coding
CCDS45822A6NHR9-1 NM_015295.3MANE SelectEnsembl CanonicalGENCODE basicAPPRIS P2TSL:5
ENST00000688342.1SMCHD1-22064881961aaENSP00000508422.1
 
Protein coding
A0A8I5KRS9 -GENCODE basicAPPRIS ALT2
ENST00000577880.5SMCHD1-20349511388aaENSP00000463049.1
 
Nonsense mediated decay
J3KTL8 -TSL:2CDS 5' incomplete
ENST00000584897.5SMCHD1-2114143150aaENSP00000464684.1
 
Nonsense mediated decay
J3QSH1 -TSL:2CDS 5' incomplete
ENST00000686763.1SMCHD1-2183793385aaENSP00000510263.1
 
Nonsense mediated decay
A0A8I5KQZ7 --
ENST00000686864.1SMCHD1-2193384748aaENSP00000509148.1
 
Nonsense mediated decay
A0A8I5KW02 -CDS 5' incomplete
ENST00000645355.1SMCHD1-2152315212aaENSP00000495392.1
 
Nonsense mediated decay
A0A2R8YE92 -CDS 5' incomplete
ENST00000642953.1SMCHD1-2141263308aaENSP00000493989.1
 
Nonsense mediated decay
A0A2R8YCU7 -CDS 5' incomplete
ENST00000585229.1SMCHD1-21255549aaENSP00000462050.1
 
Nonsense mediated decay
J3KRK8 -TSL:4CDS 5' incomplete
ENST00000690757.1SMCHD1-2252084No protein-
 
Protein coding CDS not defined
---
ENST00000583800.1SMCHD1-210865No protein-
 
Protein coding CDS not defined
--TSL:5
ENST00000609587.1SMCHD1-213460No protein-
 
Protein coding CDS not defined
--TSL:NA
ENST00000693213.1SMCHD1-2266737No protein-
 
Retained intron
---
ENST00000688708.1SMCHD1-2215410No protein-
 
Retained intron
---
ENST00000689034.1SMCHD1-2234628No protein-
 
Retained intron
---
ENST00000583441.2SMCHD1-2094228No protein-
 
Retained intron
--TSL:5
ENST00000684915.1SMCHD1-2163534No protein-
 
Retained intron
---
ENST00000688964.1SMCHD1-2223190No protein-
 
Retained intron
---
ENST00000693522.1SMCHD1-2273151No protein-
 
Retained intron
---
ENST00000685656.1SMCHD1-2172988No protein-
 
Retained intron
---
ENST00000689800.1SMCHD1-2242798No protein-
 
Retained intron
---
ENST00000583344.2SMCHD1-2081124No protein-
 
Retained intron
--TSL:2
ENST00000581383.1SMCHD1-205806No protein-
 
Retained intron
--TSL:3
ENST00000581631.1SMCHD1-206729No protein-
 
Retained intron
--TSL:3
ENST00000581711.1SMCHD1-207546No protein-
 
Retained intron
--TSL:4
ENST00000577300.1SMCHD1-202506No protein-
 
Retained intron
--TSL:3
ENST00000581226.1SMCHD1-204459No protein-
 
Retained intron
--TSL:3