Transcript: ENST00000248566.2 SHFM1-003

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: 96,317,770-96,339,203 reverse strand.

About this transcript

This transcript has 3 exons, is annotated with 5 domains and features, is associated with 8890 variant alleles and maps to 293 oligo probes.

Gene

This transcript is a product of gene ENSG00000127922.5 Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000248566.2	SHFM1-003	807	70aa	ENSP00000248566.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS5646	P60896 Q6IBB7	NM_006304.1	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000413065.1	SHFM1-006	661	89aa	ENSP00000409481.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		F2Z309	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000444799.1	SHFM1-007	570	62aa	ENSP00000390049.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		F2Z2L7	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000417009.1	SHFM1-008	350	65aa	ENSP00000416322.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		F2Z2N6	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000449279.1	SHFM1-004	699	89aa	ENSP00000392852.1	Nonsense mediated decay		F2Z309	-	-
ENST00000493858.1	SHFM1-001	2707	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000488005.1	SHFM1-005	775	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000466986.1	SHFM1-002	507	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000476463.1	SHFM1-009	427	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000482389.1	SHFM1-010	2773	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-

Summary

Statistics

Exons: 3, Coding exons: 3, Transcript length: 807 bps, Translation length: 70 residues

Uniprot

This transcript corresponds to the following Uniprot identifiers: P60896

CCDS

This transcript is a member of the Human CCDS set: CCDS5646

Version

ENST00000248566.2

Type

Protein coding

Annotation Method

Transcript where the Ensembl genebuild transcript and the Havana manual annotation have the same sequence, for every base pair. See article.

Alternative transcripts

This transcript corresponds to the following database identifiers:

Transcript having exact match between ENSEMBL and HAVANA:	OTTHUMT00000319595 (version 1)

GENCODE basic gene

This transcript is a member of the Gencode basic gene set.

Favourite species

All species

Recent locations

Transcript: ENST00000248566.2 SHFM1-003

Summary