AutismKB 2.0

Evidence Details for FANCD2


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Basic Information Top
Gene Symbol:FANCD2 ( DKFZp762A223,FA-D2,FA4,FACD,FAD,FAD2,FANCD,FLJ23826 )
Gene Full Name: Fanconi anemia, complementation group D2
Band: 3p25.3
Quick LinksEntrez ID:2177; OMIM: 227646; Uniprot ID:FACD2_HUMAN; ENSEMBL ID: ENSG00000144554; HGNC ID: 3585
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>FANCD2|2177|nucleotide
ATGGTTTCCAAAAGAAGACTGTCAAAATCTGAGGATAAAGAGAGCCTGACAGAAGATGCCTCCAAAACCAGGAAGCAACCACTTTCCAAAAAGACAAAGAAATCT
CATATTGCTAATGAAGTTGAAGAAAATGACAGCATCTTTGTAAAGCTTCTTAAGATATCAGGAATTATTCTTAAAACGGGAGAGAGTCAGAATCAACTAGCTGTG
GATCAAATAGCTTTCCAAAAGAAGCTCTTTCAGACCCTGAGGAGACACCCTTCCTATCCCAAAATAATAGAAGAATTTGTTAGTGGCCTGGAGTCTTACATTGAG
GATGAAGACAGTTTCAGGAACTGCCTTTTGTCTTGTGAGCGTCTGCAGGATGAGGAAGCCAGTATGGGTGCATCTTATTCTAAGAGTCTCATCAAACTGCTTCTG
GGGATTGACATACTGCAGCCTGCCATTATCAAAACCTTATTTGAGAAGTTGCCAGAATATTTTTTTGAAAACAAGAACAGTGATGAAATCAACATACCTCGACTC
ATTGTCAGTCAACTAAAATGGCTTGACAGAGTTGTGGATGGCAAGGACCTCACCACCAAGATCATGCAGCTGATCAGTATTGCTCCAGAGAACCTGCAGCATGAC
ATCATCACCAGCCTACCTGAGATCCTAGGGGATTCCCAGCACGCTGATGTGGGGAAAGAACTCAGTGACCTACTGATAGAGAATACTTCACTCACTGTCCCAATC
CTGGATGTCCTTTCAAGCCTCCGACTTGACCCAAACTTCCTATTGAAGGTTCGCCAGTTGGTGATGGATAAGTTGTCGTCTATTAGATTGGAGGATTTACCTGTG
ATAATAAAGTTCATTCTTCATTCCGTAACAGCCATGGATACACTTGAGGTAATTTCTGAGCTTCGGGAGAAGTTGGATCTGCAGCATTGTGTTTTGCCATCACGG
TTACAGGCTTCCCAAGTAAAGTTGAAAAGTAAAGGACGAGCAAGTTCCTCAGGAAATCAAGAAAGCAGCGGTCAGAGCTGTATTATTCTCCTCTTTGATGTAATA
AAGTCAGCTATTAGATATGAGAAAACCATTTCAGAAGCCTGGATTAAGGCAATTGAAAACACTGCCTCAGTATCTGAACACAAGGTGTTTGACCTGGTGATGCTT
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>FANCD2|2177|protein
MVSKRRLSKSEDKESLTEDASKTRKQPLSKKTKKSHIANEVEENDSIFVKLLKISGIILKTGESQNQLAVDQIAFQKKLFQTLRRHPSYPKIIEEFVSGLESYIE
DEDSFRNCLLSCERLQDEEASMGASYSKSLIKLLLGIDILQPAIIKTLFEKLPEYFFENKNSDEINIPRLIVSQLKWLDRVVDGKDLTTKIMQLISIAPENLQHD
IITSLPEILGDSQHADVGKELSDLLIENTSLTVPILDVLSSLRLDPNFLLKVRQLVMDKLSSIRLEDLPVIIKFILHSVTAMDTLEVISELREKLDLQHCVLPSR
LQASQVKLKSKGRASSSGNQESSGQSCIILLFDVIKSAIRYEKTISEAWIKAIENTASVSEHKVFDLVMLFIIYSTNTQTKKYIDRVLRNKIRSGCIQEQLLQST
FSVHYLVLKDMCSSILSLAQSLLHSLDQSIISFGSLLYKYAFKFFDTYCQQEVVGALVTHICSGNEAEVDTALDVLLELVVLNPSAMMMNAVFVKGILDYLDNIS
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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) 1 (3) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 2 (5)
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
Bremer, 2011 - aCGHASD - - - - 223 - 223
Linkage Studies Top