Gene: OFD1 ENSG00000046651

Description

oral-facial-digital syndrome 1 [Source:HGNC Symbol;Acc:2567]

Gene Synonyms

71-7A, CXorf5, JBTS10, RP23, SGBS2

Location

Chromosome X: 13,752,832-13,787,480 forward strand.

GRCh37:CM000685.1

About this gene

This gene has 9 transcripts (splice variants) and is associated with 13 phenotypes.

Transcripts

Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000340096.6	OFD1-001	3611	1012aa	ENSP00000344314.6	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS14157	A6NF31 A8K2T9 E9KL37 O75665	NM_003611.2	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,
ENST00000380567.1	OFD1-002	3736	872aa	ENSP00000369941.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		A6NF31	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000380550.3	OFD1-201	3531	972aa	ENSP00000369923.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding		B4DLQ3 O75665	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000398395.3	OFD1-202	1597	367aa	ENSP00000381432.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding		O75665	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000490265.1	OFD1-003	4259	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000464463.1	OFD1-004	812	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000485052.1	OFD1-006	685	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000466534.1	OFD1-007	534	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000474705.1	OFD1-005	496	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-

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Gene: OFD1 ENSG00000046651

Summary

EMBL-EBI User Survey 2024

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Gene: OFD1 ENSG00000046651

Summary