AutismKB 2.0

Evidence Details for FAM193A


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Basic Information Top
Gene Symbol:FAM193A ( C4orf8 )
Gene Full Name: family with sequence similarity 193, member A
Band: 4p16.3
Quick LinksEntrez ID:8603; OMIM: NA; Uniprot ID:F193A_HUMAN; ENSEMBL ID: ENSG00000125386; HGNC ID: 16822
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>FAM193A|8603|nucleotide
ATGAAGGTCCGCCTGCTCCGGCAGCTGTCGGCTGCGGCCAAGGTGAAGGCACCATCTGGCCTGCAGGGCCCGCCGCAAGCGCACCAGTTCATCTCCCTCCTGCTT
GAGGAGTACGGCGCCCTCTGCCAGGCCGCACGCTCCATCAGCACCTTCCTTGGCACTCTGGAAAATGAACACTTGAAAAAGTTCCAAGTGACGTGGGAACTGCAT
AATAAACACCTGTTTGAAAATCTGGTCTTTTCGGAGCCACTTCTTCAGAGCAACTTGCCCGCACTGGTGTCACAGATCAGGCTAGGAACCACCACACACGACACC
TGCAGTGAGGACACATACAGTACCTTGCTGCAGAGGTACCAGCGTTCCGAGGAGGAGCTGCGCAGAGTCGCCGAGGAGTGGCTGGAGTGCCAGAAGAGGATCGAC
GCCTATGTCGACGAGCAGATGACAATGAAAACCAAGCAGCGCATGTTAACAGAAGACTGGGAGCTTTTTAAACAAAGAAGATTCATTGAAGAACAGTTAACCAAT
AAGAAAGCAGTTACTGGCGAGAACAACTTCACAGACACCATGAGGCACATGTTATCGTCCCGGCTGAGCATGCCCGACTGCCCCAACTGCAACTACAGGAGAAGA
TGTGCTTGCGATGACTGCAGTCTCTCACACATCCTCACGTGTGGTATCATGGACCCCCCCGTCACTGATGACATCCACATTCACCAGCTCCCACTTCAAGTGGAT
CCTGCTCCTGACTATCTTGCTGAGAGGAGCCCGCCCAGTGTGTCATCTGCAAGCTCGGGGTCCGGCTCCAGCTCTCCCATCACAATTCAGCAGCACCCCAGGCTC
ATCCTCACAGACAGTGGCTCGGCACCAACTTTTTGTAGTGATGATGAAGATGTTGCACCATTGTCAGCCAAATTTGCTGATATTTATCCATTGAGTAATTATGAT
GATACCGAGGTGGTGGCCAACATGAATGGAATCCACAGCGAATTGAATGGTGGCGGGGAAAACATGGCCCTGAAGGATGAGTCTCCTCAGATAAGCAGTACCAGC
AGTAGTTCCTCAGAAGCTGATGATGAAGAAGCGGACGGCGAGAGTAGTGGGGAGCCCCCAGGGGCCCCGAAGGAAGATGGAGTGCTGGGAAGCAGGAGCCCCAGG
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>FAM193A|8603|protein
MKVRLLRQLSAAAKVKAPSGLQGPPQAHQFISLLLEEYGALCQAARSISTFLGTLENEHLKKFQVTWELHNKHLFENLVFSEPLLQSNLPALVSQIRLGTTTHDT
CSEDTYSTLLQRYQRSEEELRRVAEEWLECQKRIDAYVDEQMTMKTKQRMLTEDWELFKQRRFIEEQLTNKKAVTGENNFTDTMRHMLSSRLSMPDCPNCNYRRR
CACDDCSLSHILTCGIMDPPVTDDIHIHQLPLQVDPAPDYLAERSPPSVSSASSGSGSSSPITIQQHPRLILTDSGSAPTFCSDDEDVAPLSAKFADIYPLSNYD
DTEVVANMNGIHSELNGGGENMALKDESPQISSTSSSSSEADDEEADGESSGEPPGAPKEDGVLGSRSPRTEESKADSPPPSYPTQQAEQAPNTCECHVCKQEAS
GLTPSAMTAGALPPGHQFLSPEKPTHPALHLYPHIHGHVPLHTVPHLPRPLIHPTLYATPPFTHSKALPPAPVQNHTNKHQVFNASLQDHIYPSCFGNTPEWNSS
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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 (2) 1 (1) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top