AutismKB 2.0

Evidence Details for FAM63B


View Evidences View Variants View Annotations
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
Show »

>FAM63B|54629|protein
MESSPESLQPLEHGVAAGPASGTGSSQEGLQETRLAAGDGPGVWAAETSGGNGLGAAAARRSLPDSASPAGSPEVPGPCSSSAGLDLKDSGLESPAAAEAPLRGQ
YKVTASPETAVAGVGHELGTAGDAGARPDLAGTCQAELTAAGSEEPSSAGGLSSSCSDPSPPGESPSLDSLESFSNLHSFPSSCEFNSEEGAENRVPEEEEGAAV
LPGAVPLCKEEEGEETAQVLAASKERFPGQSVYHIKWIQWKEENTPIITQNENGPCPLLAILNVLLLAWKVKLPPMMEIITAEQLMEYLGDYMLDAKPKEISEIQ
RLNYEQNMSDAMAILHKLQTGLDVNVRFTGVRVFEYTPECIVFDLLDIPLYHGWLVDPQIDDIVKAVGNCSYNQLVEKIISCKQSDNSELVSEGFVAEQFLNNTA
TQLTYHGLCELTSTVQEGELCVFFRNNHFSTMTKYKGQLYLLVTDQGFLTEEKVVWESLHNVDGDGNFCDSEFHLRPPSDPETVYKGQQDQIDQDYLMALSLQQE
Show »

Evidence summary Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
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
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Allen-Brady, 2010 USA SNP-based genomic screenASD 40 - 40 - 192 461 653
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference Case Number Family Number de novo Number Title
Neale BM, 2012 175 175 173 Patterns and rates of exonic de novo mutations in autism spectrum disorders.
De Rubeis S, 2014 2270 - 1702 Synaptic, transcriptional and chromatin genes disrupted in autism
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

Contact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018