Transcript: ENST00000413065.1 SHFM1-006

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: 96,302,769-96,339,163 reverse strand.

About this transcript

This transcript has 3 exons, is annotated with 5 domains and features, is associated with 14954 variant alleles and maps to 220 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	A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, 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: 661 bps, Translation length: 89 residues

Version

ENST00000413065.1

Type

Protein coding

Annotation Method

Manual annotation (determined on a case-by-case basis) from the Havana project.

Alternative transcripts

This transcript corresponds to the following database identifiers:

Havana transcript:	OTTHUMT00000319598 (version 1)

GENCODE basic gene

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

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Transcript: ENST00000413065.1 SHFM1-006

Summary