GenTIGS

FA complementation group A (FANCA) Associated conditions: 1. Fanconi anemia

mRNA Information: Transcript Variants and Protein Isoforms

SNo.	Status	mRNA accession	Protein accession	Genomic DNA accession (Chromosome)	mRNA location on genomic DNA	Assembly	UniProtkb ID
1	REVIEWED	NM_000135.4	NP_000126.2	NC_000016.10	(89737548..89816646, complement)	Reference GRCh38.p14 Primary Assembly	O15360
2	REVIEWED	NM_001018112.3	NP_001018122.1	NC_000016.10	(89737548..89816646, complement)	Reference GRCh38.p14 Primary Assembly	O15360
3	REVIEWED	NM_001286167.3	NP_001273096.1	NC_000016.10	(89737548..89816646, complement)	Reference GRCh38.p14 Primary Assembly	O15360
4	REVIEWED	NM_001351830.2	NP_001338759.1	NC_000016.10	(89737548..89816646, complement)	Reference GRCh38.p14 Primary Assembly	O15360

Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.

PubMed Links for Transcript Variants (Isoforms)

Link 1224 reference articles

Variant Information FA complementation group A (FANCA) Mutation Visualization Dashboard: Pathogenic variant distribution chart

IndiGenomes variants: Exploring and mapping pathogenic variants in gene FA complementation group A (FANCA)

ClinVar variants:Revealing mutagenic patterns

GO Term of FA complementation group A (FANCA)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	IDA	part_of	chromatin	Component	22343915
2	Homo sapiens	IPI	enables	protein binding	Function	10627486 10652215 11063725 11726552 12571280 12649160 16189514 17289582 17396147 17474147 22266823 22343915 22705371 28514442 32814053
3	Homo sapiens	IDA	located_in	nucleus	Component	11726552
4	Homo sapiens	IDA	located_in	nucleoplasm	Component	-
5	Homo sapiens	TAS	located_in	nucleoplasm	Component	-
6	Homo sapiens	IEA	located_in	cytoplasm	Component	-
7	Homo sapiens	TAS	involved_in	DNA repair	Process	-
8	Homo sapiens	IEA	involved_in	male meiotic nuclear division	Process	-
9	Homo sapiens	IEA	involved_in	male gonad development	Process	-
10	Homo sapiens	IEA	involved_in	female gonad development	Process	-
11	Homo sapiens	NAS	involved_in	interstrand cross-link repair	Process	19965384
12	Homo sapiens	IBA	part_of	Fanconi anaemia nuclear complex	Component	21873635
13	Homo sapiens	IDA	part_of	Fanconi anaemia nuclear complex	Component	20347428 22266823 22343915 22705371
14	Homo sapiens	NAS	part_of	Fanconi anaemia nuclear complex	Component	22343915
15	Homo sapiens	IBA	involved_in	regulation of regulatory T cell differentiation	Process	21873635
16	Homo sapiens	IEA	involved_in	regulation of inflammatory response	Process	-
17	Homo sapiens	TAS	involved_in	protein-containing complex assembly	Process	9398857
18	Homo sapiens	IEA	involved_in	regulation of germ cell proliferation	Process	-
19	Homo sapiens	IEA	involved_in	regulation of CD40 signaling pathway	Process	-