AutismKB 2.0

Evidence Details for FAM120B


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:FAM120B ( CCPG,FLJ55614,KIAA0183,KIAA1838,PGCC1,dJ894D12.1 )
Gene Full Name: family with sequence similarity 120B
Band: 6q27
Quick LinksEntrez ID:84498; OMIM: 612266; Uniprot ID:F120B_HUMAN; ENSEMBL ID: ENSG00000112584; HGNC ID: 21109
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>FAM120B|84498|nucleotide
ATGGGTGTGAGAGGTTTGCAAGGATTTGTGGGAAGTACCTGCCCACATATATGTACAGTAGTAAATTTCAAAGAACTGGCAGAGCACCACCGAAGCAAGTATCCT
GGATGTACCCCTACCATTGTGGTTGATGCCATGTGTTGTCTCAGATATTGGTATACTCCAGAATCTTGGATCTGCGGTGGCCAGTGGCGAGAATACTTTTCTGCT
TTGCGAGATTTTGTTAAAACTTTTACGGCAGCTGGGATCAAGTTGATATTCTTCTTTGATGGCATGGTGGAGCAGGATAAGAGAGATGAATGGGTGAAACGAAGG
CTCAAGAACAACAGGGAGATATCCAGGATTTTTCATTACATCAAGTCACACAAGGAGCAGCCAGGCAGAAATATGTTCTTCATCCCCTCAGGGCTAGCTGTGTTT
ACACGATTTGCTCTAAAGACACTGGGCCAGGAAACTTTGTGTTCTTTGCAGGAAGCAGATTATGAGGTAGCTTCCTATGGCCTCCAGCATAACTGTCTTGGGATT
CTGGGGGAAGACACTGATTACCTAATCTATGACACTTGTCCCTACTTTTCAATTAGCGAGCTCTGCCTAGAGAGCCTGGACACCGTCATGCTCTGCAGAGAGAAG
CTCTGTGAGAGTCTGGGCCTCTGTGTGGCCGACCTTCCTCTTCTGGCCTGCCTCCTTGGCAACGACATAATCCCAGAGGGCATGTTTGAAAGCTTTAGGTACAAA
TGCTTATCGTCCTACACCTCTGTAAAAGAGAACTTTGACAAAAAAGGTAACATCATATTAGCTGTGTCAGACCATATATCGAAAGTTCTTTACTTGTATCAAGGT
GAGAAAAAATTAGAAGAGATATTACCTCTGGGACCAAACAAAGCTCTTTTTTATAAAGGAATGGCATCATATCTTTTACCAGGACAAAAATCTCCATGGTTTTTC
CAAAAACCCAAAGGTGTAATAACTTTGGACAAACAAGTAATATCCACGAGTTCAGACGCCGAATCCAGGGAAGAAGTTCCCATGTGTTCAGATGCTGAATCCAGG
CAAGAAGTTCCCATGTGTACAGGCCCTGAATCCAGGCGAGAAGTTCCCGTGTATACAGATTCTGAACCCAGGCAAGAAGTTCCCATGTGTTCAGACCCTGAACCC
Show »

>FAM120B|84498|protein
MGVRGLQGFVGSTCPHICTVVNFKELAEHHRSKYPGCTPTIVVDAMCCLRYWYTPESWICGGQWREYFSALRDFVKTFTAAGIKLIFFFDGMVEQDKRDEWVKRR
LKNNREISRIFHYIKSHKEQPGRNMFFIPSGLAVFTRFALKTLGQETLCSLQEADYEVASYGLQHNCLGILGEDTDYLIYDTCPYFSISELCLESLDTVMLCREK
LCESLGLCVADLPLLACLLGNDIIPEGMFESFRYKCLSSYTSVKENFDKKGNIILAVSDHISKVLYLYQGEKKLEEILPLGPNKALFYKGMASYLLPGQKSPWFF
QKPKGVITLDKQVISTSSDAESREEVPMCSDAESRQEVPMCTGPESRREVPVYTDSEPRQEVPMCSDPEPRQEVPTCTGPESRREVPMCSDPEPRQEVPMCTGPE
ARQEVPMYTDSEPRQEVPMYTDSEPRQEVPMYTGSEPRQEVPMYTGPESRQEVPMYTGPESRQEVLIRTDPESRQEIMCTGHESKQEVPICTDPISKQEDSMCTH
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 (2) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (1) 0 (0) 2 (4)
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
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Linkage Studies Top