AutismKB 2.0

Evidence Details for FAM171B


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Basic Information Top
Gene Symbol:FAM171B ( FLJ34104,KIAA1946 )
Gene Full Name: family with sequence similarity 171, member B
Band: 2q32.1
Quick LinksEntrez ID:165215; OMIM: NA; Uniprot ID:F171B_HUMAN; ENSEMBL ID: ENSG00000144369; HGNC ID: 29412
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>FAM171B|165215|nucleotide
ATGGCGAGGCTCTGCCGGCGTGTCCCCTGCACCCTGCTTCTCGGCCTGGCCGTGGTGCTGCTGAAAGCGCGGCTGGTCCCCGCGGCCGCCAGAGCGGAACTCAGC
CGCTCCGACCTCAGCCTCATCCAACAGCAGCAGCAGCAGCAGCAACAACAACAACAACAGCAAAAGCAGCTGGAGGAGGCTGAGGAGGAGAGGACAGAGGTGCCT
GGGGCAACCTCCACCTTGACGGTTCCAGTGTCTGTATTTATGTTGAAAGTCCAGGTGAATGACATCATCAGTCGTCAGTACCTGAGCCAAGCAGTTGTAGAAGTG
TTTGTAAACTACACGAAGACAAATTCCACAGTAACTAAAAGCAATGGAGCAGTGCTGATAAAAGTACCCTACAAATTAGGACTTAGTTTAACTATTATTGCTTAC
AAAGATGGCTACGTGTTGACCCCTCTGCCTTGGAAAACCAGAAGAATGCCAATATATTCATCAGTTACACTTTCACTGTTCCCGCAAAGCCAAGCAAATATATGG
CTATTTGAAGACACTGTTTTAATTACTGGAAAATTAGCTGATGCCAAGTCTCAACCAAGTGTTCAGTTTTCAAAAGCCTTAATTAAACTTCCTGACAACCATCAT
ATTAGCAACGTTACTGGCTATCTTACAGTTCTACAACAGTTTTTGAAAGTGGACAATTTTCTGCATACAACTGGAATTACTCTCAATAAACCAGGTTTTGAAAAC
ATTGAATTGACTCCTCTTGCTGCAATATGTGTGAAAATATATTCTGGAGGAAAAGAACTAAAGGTCAATGGCTCTATTCAAGTTTCTCTTCCTCTTCTACGTCTG
AATGATATAAGTGCAGGGGATCGCATACCTGCTTGGACATTTGATATGAACACAGGTGCTTGGGTAAATCATGGTCGGGGAATGGTCAAGGAACATAACAATCAT
TTAATCTGGACATATGATGCACCACATTTGGGGTACTGGATAGCAGCTCCACTTCCAGGAACTAGAGGTTCAGGTATAAATGAAGATTCCAAGGACATAACTGCC
TACCACACAGTGTTTCTTACAGCCATATTAGGAGGAACAATAGTCATTGTCATTGGATTTTTTGCTGTACTACTTTGTTATTGCAGGGACAAGTGTGGTACTCCA
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>FAM171B|165215|protein
MARLCRRVPCTLLLGLAVVLLKARLVPAAARAELSRSDLSLIQQQQQQQQQQQQQQKQLEEAEEERTEVPGATSTLTVPVSVFMLKVQVNDIISRQYLSQAVVEV
FVNYTKTNSTVTKSNGAVLIKVPYKLGLSLTIIAYKDGYVLTPLPWKTRRMPIYSSVTLSLFPQSQANIWLFEDTVLITGKLADAKSQPSVQFSKALIKLPDNHH
ISNVTGYLTVLQQFLKVDNFLHTTGITLNKPGFENIELTPLAAICVKIYSGGKELKVNGSIQVSLPLLRLNDISAGDRIPAWTFDMNTGAWVNHGRGMVKEHNNH
LIWTYDAPHLGYWIAAPLPGTRGSGINEDSKDITAYHTVFLTAILGGTIVIVIGFFAVLLCYCRDKCGTPQKRERNITKLEVLKRDQTTSTTHINHISTVKVALK
AEDKSQLFNAKNSSYSPQKKEPSKAETEERVSMVKTRDDFKIYNEDVSFLSVNQNNYSRNPTQSLEPNVGSKQPKHINNNLSSSLGDAQDEKRYLTGNEEAYGRS
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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 (1) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 4 (3)
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
Gallagher, 2003 - Chromosomal analysis of G-bandautism - - - - 1 - 1
Linkage Studies Top