AutismKB 2.0

Evidence Details for FAM190A


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Basic Information Top
Gene Symbol:FAM190A ( KIAA1680,MGC48628 )
Gene Full Name: family with sequence similarity 190, member A
Band: 4q22.1
Quick LinksEntrez ID:401145; OMIM: NA; Uniprot ID:F190A_HUMAN; ENSEMBL ID: ENSG00000184305; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>FAM190A|401145|nucleotide
ATGGGGGACTCAGGATCAAGACGATCTACCCTGGTCTCCCGGTTGCCAATATTCAGAAGAAGTATTAACAGAAGACATGATTCTCTTCCTTCTTCACCTTCTTCC
AGTAATACAGTTGGTGTCCACAGTTCCTCTCCTTCCAGCACTAACTCAAGCTCAGGTAGCACAGGTAAACGGAGGAGCATATTCCGTACTCCTTCCATTAGCTTC
CACCATAAGAAGGGGAGTGAGCCTAAGCAAGAGCCTACCAACCAGAACCTTAGTATTTCAAATGGTGCTCAACCTGGTCACAGCAATATGCAGAAACTGAGTTTG
GAAGAACATATTAAGACCAGGGGAAGACATTCTGTTGGTTTTAGTAGTTCACGAAATAAGAAGATAACAAGATCTTTGACAGAGGATTTTGAAAGGGAAAAAGAG
CACTCAACTAACAAGAATGTCTTTATAAATTGTCTAAGTTCTGGCAAAAGTGAAGGGGATGATTCTGGTTTCACAGAAGACCAAACTCGTCGTTCTGTTAAGCAG
TCAACAAGGAAGCTACTCCCTAAATCTTTTTCATCTCACTATAAATTTTCTAAGCCAGTTCTACAGAGCCAATCCATTTCATTGGTACAACAGTCTGAATTCTCA
TTGGAAGTTACACAGTACCAAGAGAGAGAACCTGTATTAGTAAGAGCTTCGCCATCCTGTTCTGTGGATGTAACAGAACGGGCAGGAAGCTCTTTACAATCTCCT
TTGCTTTCTGCTGATCTTACCACAGCTCAGACACCTTCAGAATTTTTAGCCTTGACTGAAGATTCTGTGTCTGAAATGGATGCATTTTCTAAAAGTGGAAGCATG
GCATCCCACTGTGACAACTTTGGCCACAATGATTCTACCTCTCAGATGTCCCTCAATTCTGCTGCTGTTACAAAGACAACAACAGAACTTACGGGAACTGTTCCC
TGTGCAATTATGTCTCCTGGGAAATATAGGTTAGAGGGTCAATGTAGCACTGAATCTAATTCATTACCGGAAACCTCTGCTGCTAATCAGAAGGAAGTGTTATTA
CAAATTGCTGAACTACCTGCTACAAGTGTGAGCCACTCAGAGAGTAACCTACCAGCAGATAGTGAAAGAGAAGAAAATATAGGGTTACAAAATGGTGAAACAATG
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>FAM190A|401145|protein
MGDSGSRRSTLVSRLPIFRRSINRRHDSLPSSPSSSNTVGVHSSSPSSTNSSSGSTGKRRSIFRTPSISFHHKKGSEPKQEPTNQNLSISNGAQPGHSNMQKLSL
EEHIKTRGRHSVGFSSSRNKKITRSLTEDFEREKEHSTNKNVFINCLSSGKSEGDDSGFTEDQTRRSVKQSTRKLLPKSFSSHYKFSKPVLQSQSISLVQQSEFS
LEVTQYQEREPVLVRASPSCSVDVTERAGSSLQSPLLSADLTTAQTPSEFLALTEDSVSEMDAFSKSGSMASHCDNFGHNDSTSQMSLNSAAVTKTTTELTGTVP
CAIMSPGKYRLEGQCSTESNSLPETSAANQKEVLLQIAELPATSVSHSESNLPADSEREENIGLQNGETMLGTNSPRKLGFYEQHKAIAEHVKGIHPISDSKIIP
TSGDHHIFNKTSHGYEANPAKVLASSLSPFREGRFIERRLRSSSEGTAGSSRMILKPKDGNIEEVNSLRKQRAGSSSSKMNSLDVLNNLGSCELDEDDLMLDLEF
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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 (1) 0 (2) 1 (1) 0 (0) 1 (1) 0 (1) 0 (0) 0 (0) 0 (0) 3 (6)
Syndromic Autism Gene Top
Genome-Wide Association Studies (By Ethnic Group) Top
Family Based Association Studies: 1
Reference Stage Platform #Families Affecteds Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ
(range)
CAUCASIAN
Hussman, 2011_1 Discovery Illumina Infinium Human 1 M beadship 597 -
(-)
ASD -
-
-
-
Case Control Based Association Studies: 0
Reference Stage Platform ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
No Evidence.
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Jacquemont, 2006 France aCGHASD - - - - 29 - 29
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Linkage Studies Top