Human (GRCh37.p13)
Description

split hand/foot malformation (ectrodactyly) type 1 [Source:HGNC Symbol;Acc:10845]

Gene Synonyms

DSS1, ECD, SEM1, SHFD1, SHFDG1, SHSF1, Shfdg1

Location

Chromosome 7: 96,110,938-96,339,203 reverse strand.

GRCh37:CM000669.1

About this gene

This gene has 10 transcripts (splice variants) and is associated with 1 phenotype.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeqFlags
ENST00000248566.2SHFM1-00380770aaENSP00000248566.2
 
Protein coding
CCDS5646P60896 Q6IBB7 NM_006304.1Ensembl CanonicalGENCODE Basic
ENST00000413065.1SHFM1-00666189aaENSP00000409481.1
 
Protein coding
F2Z309 -GENCODE Basic
ENST00000444799.1SHFM1-00757062aaENSP00000390049.1
 
Protein coding
F2Z2L7 -GENCODE Basic
ENST00000417009.1SHFM1-00835065aaENSP00000416322.1
 
Protein coding
F2Z2N6 -GENCODE Basic
ENST00000449279.1SHFM1-00469989aaENSP00000392852.1
 
Nonsense mediated decay
F2Z309 --
ENST00000493858.1SHFM1-0012707No protein-
 
Processed transcript
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ENST00000488005.1SHFM1-005775No protein-
 
Processed transcript
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ENST00000466986.1SHFM1-002507No protein-
 
Processed transcript
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ENST00000476463.1SHFM1-009427No protein-
 
Processed transcript
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ENST00000482389.1SHFM1-0102773No protein-
 
Retained intron
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