GenTIGSA Gene Database on Rare Genetic Disorders

FA complementation group M (FANCM) Associated conditions:  1. Fanconi anemia  2. Hereditary breast ovarian cancer syndrome  3. Retinoblastoma 
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_001308133.2 NP_001295062.1 NC_000014.9 (45135929..45200889) Reference GRCh38.p14 Primary Assembly -
2 REVIEWED NM_001308134.2 NP_001295063.1 NC_000014.9 (45135929..45200889) Reference GRCh38.p14 Primary Assembly -
3 REVIEWED NM_020937.4 NP_065988.1 NC_000014.9 (45135929..45200889) Reference GRCh38.p14 Primary Assembly -

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 1106 reference articles

Variant Information FA complementation group M (FANCMMutation Visualization Dashboard: Pathogenic variant distribution chart

 

IndiGenomes variants: Exploring and mapping pathogenic variants in gene FA complementation group M (FANCM)
ClinVar variants:Revealing mutagenic patterns

GO Term of FA complementation group M (FANCM)
SNo. Reported in speceis Evidence Qualifier GO term Category Pubmed Link
1Homo sapiensIEAenablesnucleotide bindingFunction
2Homo sapiensIBAenablesfour-way junction DNA bindingFunction
3Homo sapiensIMPinvolved_inresolution of meiotic recombination intermediatesProcess20347428 
4Homo sapiensIDAlocated_inchromatinComponent20347429 
5Homo sapiensIEAenablesnucleic acid bindingFunction
6Homo sapiensIEAenablesDNA bindingFunction
7Homo sapiensIDAenableschromatin bindingFunction20347429 
8Homo sapiensIEAenablesRNA helicase activityFunction
9Homo sapiensIEAenableshelicase activityFunction
10Homo sapiensIPIenablesprotein bindingFunction17289582 20347429 23932590 
25416956 32296183 32769987 
33961781 40205054 
11Homo sapiensIEAenablesATP bindingFunction
12Homo sapiensIEAlocated_innucleusComponent
13Homo sapiensIDAlocated_innucleoplasmComponent
14Homo sapiensTASlocated_innucleoplasmComponent
15Homo sapiensTASlocated_incytosolComponent
16Homo sapiensIEAinvolved_inDNA repairProcess
17Homo sapiensIEAinvolved_inDNA damage responseProcess
18Homo sapiensIBAenablesfour-way junction helicase activityFunction
19Homo sapiensIEAenableshydrolase activityFunction
20Homo sapiensIEAenablesATP hydrolysis activityFunction
21Homo sapiensIMPinvolved_inreplication fork processingProcess20347428 
22Homo sapiensIEAinvolved_inhomologous recombinationProcess
23Homo sapiensIBAinvolved_ininterstrand cross-link repairProcess
24Homo sapiensIDAinvolved_ininterstrand cross-link repairProcess20347429 
25Homo sapiensIBAenables3'-5' DNA helicase activityFunction
26Homo sapiensIEAenables3'-5' DNA helicase activityFunction
27Homo sapiensIDApart_ofFanconi anaemia nuclear complexComponent20347428 20347429 
28Homo sapiensIBAinvolved_indouble-strand break repair via synthesis-dependent strand annealingProcess
29Homo sapiensIDApart_ofFANCM-MHF complexComponent20347428 
30Homo sapiensIMPinvolved_inpositive regulation of protein monoubiquitinationProcess29231814