AutismKB 2.0

Evidence Details for FAM63B


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Basic Information Top
Gene Symbol:FAM63B ( KIAA1164 )
Gene Full Name: family with sequence similarity 63, member B
Band: 15q21.3
Quick LinksEntrez ID:54629; OMIM: NA; Uniprot ID:FA63B_HUMAN; ENSEMBL ID: ENSG00000128923; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>FAM63B|54629|nucleotide
ATGGAGAGCAGCCCCGAGAGCCTGCAGCCGCTAGAACACGGGGTGGCGGCCGGGCCAGCGTCAGGGACAGGTTCTTCGCAGGAAGGGCTACAGGAGACCAGGCTC
GCCGCTGGTGATGGTCCTGGGGTATGGGCGGCGGAGACCAGCGGCGGGAATGGGCTGGGGGCGGCGGCCGCCAGGAGGAGCCTCCCGGACTCGGCTTCTCCCGCG
GGCTCTCCTGAGGTTCCCGGACCCTGCAGCTCCTCCGCGGGTTTGGACTTGAAGGACAGTGGTTTGGAGAGTCCTGCTGCCGCCGAGGCGCCTCTGAGAGGGCAG
TACAAGGTGACCGCCTCCCCGGAGACAGCCGTGGCCGGAGTGGGTCATGAGTTGGGTACCGCCGGAGACGCGGGAGCCCGCCCGGATCTCGCCGGCACCTGCCAA
GCAGAACTGACCGCCGCCGGCTCCGAAGAGCCCAGCAGCGCCGGCGGCCTCAGCAGCAGTTGCAGCGACCCGAGCCCTCCTGGGGAATCTCCGAGCCTGGACTCT
CTGGAGTCGTTCTCTAACCTGCATTCTTTTCCCAGTAGCTGCGAGTTCAATAGTGAGGAGGGAGCGGAGAACAGGGTCCCTGAGGAGGAGGAGGGCGCGGCGGTG
TTGCCCGGGGCTGTTCCTCTGTGCAAGGAGGAGGAGGGGGAGGAGACCGCTCAGGTGCTGGCGGCCTCCAAGGAACGCTTCCCGGGACAATCTGTGTATCACATC
AAGTGGATCCAGTGGAAGGAAGAGAACACACCCATCATCACCCAGAATGAGAACGGACCCTGCCCCTTGCTGGCCATCCTCAATGTTTTGCTCCTGGCCTGGAAG
GTGAAACTTCCACCGATGATGGAAATCATAACTGCTGAGCAGCTGATGGAATATTTAGGAGATTACATGCTTGATGCAAAGCCAAAAGAAATTTCAGAAATTCAA
CGTTTAAATTATGAACAGAATATGAGTGATGCCATGGCAATTTTGCACAAACTACAGACAGGCCTGGATGTAAATGTAAGATTCACTGGTGTTCGAGTGTTTGAA
TATACACCAGAATGCATAGTATTTGATCTTCTTGATATTCCTTTGTACCATGGGTGGTTAGTAGACCCTCAGATTGATGACATTGTAAAAGCTGTTGGTAACTGC
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>FAM63B|54629|protein
MESSPESLQPLEHGVAAGPASGTGSSQEGLQETRLAAGDGPGVWAAETSGGNGLGAAAARRSLPDSASPAGSPEVPGPCSSSAGLDLKDSGLESPAAAEAPLRGQ
YKVTASPETAVAGVGHELGTAGDAGARPDLAGTCQAELTAAGSEEPSSAGGLSSSCSDPSPPGESPSLDSLESFSNLHSFPSSCEFNSEEGAENRVPEEEEGAAV
LPGAVPLCKEEEGEETAQVLAASKERFPGQSVYHIKWIQWKEENTPIITQNENGPCPLLAILNVLLLAWKVKLPPMMEIITAEQLMEYLGDYMLDAKPKEISEIQ
RLNYEQNMSDAMAILHKLQTGLDVNVRFTGVRVFEYTPECIVFDLLDIPLYHGWLVDPQIDDIVKAVGNCSYNQLVEKIISCKQSDNSELVSEGFVAEQFLNNTA
TQLTYHGLCELTSTVQEGELCVFFRNNHFSTMTKYKGQLYLLVTDQGFLTEEKVVWESLHNVDGDGNFCDSEFHLRPPSDPETVYKGQQDQIDQDYLMALSLQQE
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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) 1 (4) 1 (1) 0 (0) 0 (0) 0 (2) 0 (0) 0 (0) 0 (0) 4 (7)
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
Smith, 2000 - FISHautism - - - - 1 - 1
Wassink, 2001 USA Chromosomal analysis of G-bandautism - - - - 278 - 278
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Christian, 2008 USA aCGHASD 397 35 362 - 397 372 769
Linkage Studies Top