Transcript: ENST00000466986.1 SHFM1-002

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: 96,115,518-96,339,124 reverse strand.

About this transcript

This transcript has 4 exons, is associated with 88802 variant alleles and maps to 257 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: 4, Coding exons: 0, Transcript length: 507 bps,

Version

ENST00000466986.1

Type

Processed transcript

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:	OTTHUMT00000319594 (version 2)

Favourite species

All species

Recent locations

Transcript: ENST00000466986.1 SHFM1-002

Summary