AutismKB 2.0

Evidence Details for FNBP4


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Basic Information Top
Gene Symbol:FNBP4 ( DKFZp686M14102,DKFZp779I1064,FBP30,FLJ41904,KIAA1014 )
Gene Full Name: formin binding protein 4
Band: 11p11.2
Quick LinksEntrez ID:23360; OMIM: NA; Uniprot ID:FNBP4_HUMAN; ENSEMBL ID: ENSG00000109920; HGNC ID: 19752
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>FNBP4|23360|nucleotide
ATGGGGAAGAAGTCCCGGGCGGTACCCGGCCGTAGGCCCATCCTGCAACTCTCTCCGCCGGGTCCTCGGGGCAGCACGCCGGGCCGGGACCCGGAGCCGGAACCC
GACACTGAGCCGGACTCAACCGCGGCGGTCCCCAGCCAGCCCGCCCCGTCGGCGGCGACGACCACCACCACCGCGGTGACTGCCGCCGCGGCCTCGGACGACTCG
CCTTCAGAAGATGAACAGGAAGCGGTGCAGGAGGTTCCTAGAGTTGTTCAGAATCCTCCAAAACCAGTCATGACCACTAGACCCACAGCTGTTAAAGCAACAGGC
GGTCTATGCTTGCTTGGTGCTTATGCTGACAGTGATGACGATGACAATGATGTTTCCGAAAAACTAGCACAATCCAAAGAGACAAATGGAAACCAGTCAACTGAT
ATTGATAGTACATTGGCCAACTTCCTAGCGGAGATCGATGCCATAACAGCTCCTCAGCCTGCAGCTCCTGTAGGAGCTTCTGCTCCACCTCCAACTCCACCTCGA
CCAGAGCCAAAGGAAGCAGCAACATCTACCCTTTCTTCTTCTACTTCAAATGGAACAGACTCCACCCAAACATCTGGTTGGCAATATGATACTCAGTGTTCACTG
GCAGGAGTCGGAATTGAGATGGGCGATTGGCAGGAAGTCTGGGATGAGAACACGGGATGTTATTATTATTGGAATACACAAACAAATGAAGTGACTTGGGAGTTA
CCCCAATATCTTGCCACACAGGTACAGGGATTACAGCATTACCAGCCCAGTTCTGTGCCAGGTGCTGAAACTAGTTTTGTGGTAAATACAGACATATATTCTAAG
GAGAAAACGATTTCTGTTTCCAGTAGTAAAAGTGGACCAGTCATAGCCAAGCGAGAAGTTAAAAAGGAAGTAAATGAAGGAATTCAGGCTCTCTCAAATAGTGAG
GAGGAGAAGAAAGGGGTGGCAGCATCGCTGCTTGCTCCTTTATTGCCTGAGGGAATAAAAGAAGAAGAAGAGAGATGGAGAAGAAAAGTAATTTGTAAAGAGGAG
CCAGTTTCAGAAGTAAAAGAAACAAGTACAACAGTAGAAGAAGCAACAACAATAGTAAAGCCACAGGAAATTATGTTGGACAATATAGAAGACCCTTCTCAGGAG
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>FNBP4|23360|protein
MGKKSRAVPGRRPILQLSPPGPRGSTPGRDPEPEPDTEPDSTAAVPSQPAPSAATTTTTAVTAAAASDDSPSEDEQEAVQEVPRVVQNPPKPVMTTRPTAVKATG
GLCLLGAYADSDDDDNDVSEKLAQSKETNGNQSTDIDSTLANFLAEIDAITAPQPAAPVGASAPPPTPPRPEPKEAATSTLSSSTSNGTDSTQTSGWQYDTQCSL
AGVGIEMGDWQEVWDENTGCYYYWNTQTNEVTWELPQYLATQVQGLQHYQPSSVPGAETSFVVNTDIYSKEKTISVSSSKSGPVIAKREVKKEVNEGIQALSNSE
EEKKGVAASLLAPLLPEGIKEEEERWRRKVICKEEPVSEVKETSTTVEEATTIVKPQEIMLDNIEDPSQEDLCSVVQSGESEEEEEQDTLELELVLERKKAELRA
LEEGDGSVSGSSPRSDISQPASQDGMRRLMSKRGKWKMFVRATSPESTSRSSSKTGRDTPENGETAIGAENSEKIDENSDKEMEVEESPEKIKVQTTPKVEEEQD
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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 (2) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 2 (3)
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