AutismKB 2.0

Evidence Details for AFAP1L1


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Basic Information Top
Gene Symbol:AFAP1L1 ( FLJ36748,MGC149773 )
Gene Full Name: actin filament associated protein 1-like 1
Band: 5q32
Quick LinksEntrez ID:134265; OMIM: NA; Uniprot ID:AF1L1_HUMAN; ENSEMBL ID: ENSG00000157510; HGNC ID: 26714
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>AFAP1L1|134265|nucleotide
ATGGACCGAGGCCAGGTGCTGGAGCAGCTGCTCCCAGAGCTCACCGGGCTGCTCAGCCTCCTGGACCACGAGTACCTCAGCGATACCACCCTGGAAAAGAAGATG
GCCGTGGCCTCCATCCTGCAGAGCCTGCAGCCCCTTCCAGCAAAGGAGGTCTCCTACCTGTATGTGAACACAGCAGACCTCCACTCGGGGCCCAGCTTCGTGGAA
TCCCTCTTTGAAGAATTTGACTGTGACCTGAGTGACCTTCGGGACATGCCAGAGGATGATGGGGAGCCCAGCAAAGGAGCCAGCCCTGAGCTAGCCAAGAGCCCA
CGCCTGAGAAACGCGGCCGACCTGCCTCCACCGCTCCCCAACAAGCCTCCCCCTGAGGACTACTATGAAGAGGCCCTTCCTCTGGGACCCGGCAAGTCGCCTGAG
TACATCAGCTCCCACAATGGCTGCAGCCCCTCACACTCGATTGTGGATGGCTACTATGAGGACGCAGACAGCAGCTACCCTGCAACCAGGGTGAACGGCGAGCTT
AAGAGCTCCTATAATGACTCTGACGCAATGAGCAGCTCCTATGAGTCCTACGATGAAGAGGAGGAGGAAGGGAAGAGCCCGCAGCCCCGACACCAGTGGCCCTCA
GAGGAGGCCTCCATGCACCTGGTGAGGGAATGCAGGATATGTGCCTTCCTGCTGCGGAAAAAGCGTTTCGGGCAGTGGGCCAAGCAGCTGACGGTCATCAGGGAG
GACCAGCTCCTGTGTTACAAAAGCTCCAAGGATCGGCAGCCACATCTGAGGTTGGCACTGGATACCTGCAGCATCATCTACGTGCCCAAGGACAGCCGGCACAAG
AGGCACGAGCTGCGTTTCACCCAGGGGGCTACCGAGGTCTTGGTGCTGGCACTGCAGAGCCGAGAGCAGGCCGAGGAGTGGCTGAAGGTCATCCGAGAAGTGAGC
AAGCCAGTTGGGGGAGCTGAGGGAGTGGAGGTCCCCAGATCCCCAGTCCTCCTGTGCAAGTTGGACCTGGACAAGAGGCTGTCCCAAGAGAAGCAGACCTCAGAT
TCTGACAGCGTGGGTGTGGGTGACAACTGTTCTACCCTTGGCCGCCGGGAGACCTGTGATCACGGCAAAGGGAAGAAGAGCAGCCTGGCAGAACTGAAGGGCTCA
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>AFAP1L1|134265|protein
MDRGQVLEQLLPELTGLLSLLDHEYLSDTTLEKKMAVASILQSLQPLPAKEVSYLYVNTADLHSGPSFVESLFEEFDCDLSDLRDMPEDDGEPSKGASPELAKSP
RLRNAADLPPPLPNKPPPEDYYEEALPLGPGKSPEYISSHNGCSPSHSIVDGYYEDADSSYPATRVNGELKSSYNDSDAMSSSYESYDEEEEEGKSPQPRHQWPS
EEASMHLVRECRICAFLLRKKRFGQWAKQLTVIREDQLLCYKSSKDRQPHLRLALDTCSIIYVPKDSRHKRHELRFTQGATEVLVLALQSREQAEEWLKVIREVS
KPVGGAEGVEVPRSPVLLCKLDLDKRLSQEKQTSDSDSVGVGDNCSTLGRRETCDHGKGKKSSLAELKGSMSRAAGRKITRIIGFSKKKTLADDLQTSSTEEEVP
CCGYLNVLVNQGWKERWCRLKCNTLYFHKDHMDLRTHVNAIALQGCEVAPGFGPRHPFAFRILRNRQEVAILEASCSEDMGRWLGLLLVEMGSRVTPEALHYDYV
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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 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top