AutismKB 2.0

Evidence Details for FANCM


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Basic Information Top
Gene Symbol:FANCM ( FAAP250,KIAA1596,MGC176453 )
Gene Full Name: Fanconi anemia, complementation group M
Band: 14q21.2
Quick LinksEntrez ID:57697; OMIM: 609644; Uniprot ID:FANCM_HUMAN; ENSEMBL ID: ENSG00000187790; HGNC ID: 23168
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>FANCM|57697|nucleotide
ATGAGCGGACGGCAAAGAACGCTTTTTCAGACGTGGGGCTCAAGTATCTCCCGATCATCTGGGACTCCGGGTTGCAGCTCCGGAACTGAGCGACCTCAGAGCCCT
GGCAGCTCCAAGGCGCCTTTGCCAGCAGCAGCGGAGGCTCAGCTGGAGTCGGACGATGATGTGTTGCTTGTCGCGGCGTACGAGGCTGAGCGGCAGTTGTGTCTA
GAGAATGGCGGGTTCTGCACCTCCGCGGGCGCCCTGTGGATTTACCCTACCAATTGCCCAGTGCGGGACTACCAGCTGCACATTTCCCGGGCTGCTCTGTTTTGC
AATACGCTGGTGTGTCTGCCTACCGGACTGGGAAAGACCTTTATTGCCGCCGTGGTCATGTACAATTTCTACCGCTGGTTCCCTTCAGGAAAGGTGGTCTTCATG
GCCCCAACGAAACCCTTGGTGACACAGCAGATCGAGGCTTGCTACCAGGTGATGGGTATCCCGCAATCCCACATGGCCGAAATGACAGGGTCTACACAAGCTTCC
ACCAGGAAGGAAATATGGTGCAGTAAGAGAGTGCTTTTTCTTACACCTCAGGTCATGGTAAATGACCTTTCTAGAGGAGCTTGTCCCGCTGCTGAAATAAAGTGT
TTAGTTATTGATGAAGCTCATAAAGCTCTCGGAAACTATGCTTATTGCCAGGTTGTAAGAGAACTAGTCAAATATACAAATCACTTTAGAATCTTGGCTCTAAGT
GCCACACCAGGTAGTGATATAAAGGCTGTGCAACAAGTTATTACTAACCTGCTAATTGGGCAGATAGAGCTTCGTTCTGAAGATTCTCCAGATATTTTGACATAT
TCTCATGAAAGAAAAGTTGAAAAGCTTATTGTTCCGCTTGGTGAAGAACTTGCAGCCATCCAAAAGACCTATATCCAGATTTTGGAATCATTTGCTCGTTCTTTG
ATTCAGAGGAATGTTTTGATGAGAAGGGATATCCCAAATCTAACAAAATATCAGATAATTCTGGCAAGAGATCAGTTTAGGAAAAACCCATCTCCGAATATTGTG
GGAATACAACAAGGCATAATCGAGGGAGAGTTTGCTATTTGTATTAGTTTATATCATGGTTATGAATTATTGCAGCAAATGGGAATGAGATCATTATATTTCTTC
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>FANCM|57697|protein
MSGRQRTLFQTWGSSISRSSGTPGCSSGTERPQSPGSSKAPLPAAAEAQLESDDDVLLVAAYEAERQLCLENGGFCTSAGALWIYPTNCPVRDYQLHISRAALFC
NTLVCLPTGLGKTFIAAVVMYNFYRWFPSGKVVFMAPTKPLVTQQIEACYQVMGIPQSHMAEMTGSTQASTRKEIWCSKRVLFLTPQVMVNDLSRGACPAAEIKC
LVIDEAHKALGNYAYCQVVRELVKYTNHFRILALSATPGSDIKAVQQVITNLLIGQIELRSEDSPDILTYSHERKVEKLIVPLGEELAAIQKTYIQILESFARSL
IQRNVLMRRDIPNLTKYQIILARDQFRKNPSPNIVGIQQGIIEGEFAICISLYHGYELLQQMGMRSLYFFLCGIMDGTKGMTRSKNELGRNEDFMKLYNHLECMF
ARTRSTSANGISAIQQGDKNKKFVYSHPKLKKLEEVVIEHFKSWNAENTTEKKRDETRVMIFSSFRDSVQEIAEMLSQHQPIIRVMTFVGHASGKSTKGFTQKEQ
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Evidence summary Top

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Evidences Syndromic Gene GWAS CNV Linkage Association Expression NGS de novo NGS Mosaic NGS Other Low-Scale Gene Studies Total
Score (No. of Studies) No 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Linkage Studies Top