Gene: FANCA ENSG00000187741

Description

Fanconi anemia, complementation group A [Source:HGNC Symbol;Acc:3582]

Gene Synonyms

FA, FA-H, FA1, FAA, FACA, FAH, FANCH

Location

Chromosome 16: 89,803,957-89,883,065 reverse strand.

GRCh37:CM000678.1

About this gene

This gene has 32 transcripts (splice variants) and is associated with 76 phenotypes.

Transcripts

Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000389301.3	FANCA-001	5451	1455aa	ENSP00000373952.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS32515	H3BT53 O15360	NM_000135.2	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,
ENST00000568369.1	FANCA-002	4601	1424aa	ENSP00000456829.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS67099	H3BSR5 H3BT53	NM_001286167.1	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000563673.1	FANCA-006	1694	316aa	ENSP00000456443.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		H3BRX3	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000389302.3	FANCA-003	1641	297aa	ENSP00000373953.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS42221	O15360	NM_001018112.1	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000534992.1	FANCA-201	1088	302aa	ENSP00000443675.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		F5H8D5	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000543736.1	FANCA-004	1000	265aa	ENSP00000443409.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		Q0VAP4	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000564475.1	FANCA-028	732	240aa	ENSP00000454977.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		-	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000567879.1	FANCA-026	713	214aa	ENSP00000457006.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		H3BT40	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000561722.1	FANCA-027	696	195aa	ENSP00000456608.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		H3BSA3	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000564870.1	FANCA-030	460	153aa	ENSP00000456481.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		-	-	5' and 3' truncations in transcript evidence prevent annotation of the start and the end of the CDS.CDS 5' and 3' incomplete,
ENST00000567988.1	FANCA-021	915	109aa	ENSP00000454217.1	Nonsense mediated decay		-	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000567943.1	FANCA-010	860	158aa	ENSP00000455941.1	Nonsense mediated decay		H3BQU1	-	-
ENST00000565582.1	FANCA-012	812	210aa	ENSP00000456722.1	Nonsense mediated decay		H3BSI9	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000561660.1	FANCA-022	762	182aa	ENSP00000456588.1	Nonsense mediated decay		-	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000568626.1	FANCA-023	727	168aa	ENSP00000455974.1	Nonsense mediated decay		-	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000563510.1	FANCA-019	633	51aa	ENSP00000456993.1	Nonsense mediated decay		-	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000567621.1	FANCA-013	618	125aa	ENSP00000456762.1	Nonsense mediated decay		-	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000563318.1	FANCA-020	605	77aa	ENSP00000457970.1	Nonsense mediated decay		-	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000563513.1	FANCA-011	571	114aa	ENSP00000455946.1	Nonsense mediated decay		H3BQU6	-	-
ENST00000567510.1	FANCA-016	461	101aa	ENSP00000455969.1	Nonsense mediated decay		H3BQW7	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000567205.1	FANCA-008	413	63aa	ENSP00000457027.1	Nonsense mediated decay		H3BT53	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000566409.1	FANCA-007	395	41aa	ENSP00000457647.1	Nonsense mediated decay		-	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000567284.2	FANCA-031	479	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000566889.1	FANCA-005	2201	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000305699.11	FANCA-009	1430	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000564969.1	FANCA-024	850	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000566133.1	FANCA-014	761	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000562424.1	FANCA-029	745	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000568983.1	FANCA-025	726	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000567883.1	FANCA-032	650	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000563767.1	FANCA-017	578	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000561667.1	FANCA-018	528	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-

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Gene: FANCA ENSG00000187741

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Gene: FANCA ENSG00000187741

Summary