AutismKB 2.0

Evidence Details for AFAP1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:AFAP1 ( AFAP,AFAP-110,FLJ56849 )
Gene Full Name: actin filament associated protein 1
Band: 4p16.1
Quick LinksEntrez ID:60312; OMIM: 608252; Uniprot ID:AFAP1_HUMAN; ENSEMBL ID: ENSG00000196526; HGNC ID: 24017
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>AFAP1|60312|nucleotide
ATGGAAGAGTTAATAGTTGAACTTCGTCTCTTTCTTGAACTCCTGGACCATGAATATCTAACCTCAACTGTCAGGGAGAAAAAGGCAGTGATAACCAACATTCTG
CTAAGAATACAGTCATCCAAAGGTTTTGATGTGAAGGACCATGCTCAGAAGCAGGAGACCGCTAACAGCCTGCCAGCCCCTCCTCAGATGCCCCTGCCGGAGATC
CCTCAGCCCTGGCTGCCTCCTGACAGTGGGCCTCCACCATTGCCAACATCCTCCCTCCCAGAAGGTTATTATGAGGAAGCTGTGCCGCTGAGCCCCGGAAAAGCT
CCGGAATACATCACATCAAATTATGATTCCGATGCGATGAGCAGCTCTTATGAGTCGTATGATGAAGAGGAGGAGGATGGGAAGGGGAAGAAAACCCGGCACCAG
TGGCCCTCCGAGGAGGCCTCCATGGACCTGGTCAAGGACGCCAAAATCTGCGCCTTCCTGCTGCGGAAGAAGCGGTTCGGCCAGTGGACCAAGTTGCTCTGCGTC
ATCAAAGACACCAAACTGCTGTGCTATAAAAGTTCCAAGGACCAGCAGCCTCAGATGGAACTGCCACTCCAAGGCTGTAACATTACGTACATCCCGAAAGACAGC
AAAAAGAAGAAGCACGAGCTGAAGATTACTCAGCAGGGCACGGACCCGCTTGTTCTCGCCGTCCAGAGCAAGGAACAGGCCGAGCAGTGGCTGAAGGTGATCAAA
GAAGCCTACAGTGGTTGTAGTGGCCCCGTGGATTCAGAGTGTCCTCCTCCACCAAGCTCCCCGGTGCACAAGGCAGAACTGGAGAAGAAACTGTCTTCAGAGAGA
CCCAGCTCAGATGGGGAGGGTGTTGTGGAAAATGGAATTACCACATGTAATGGAAAGGAGCAAGTGAAGAGGAAGAAAAGTTCCAAATCAGAGGCCAAGGGCACT
GTGTCGAAAGTCACTGGGAAAAAAATCACCAAGATCATCAGTCTGGGAAAGAAAAAGCCGTCCACAGACGAGCAGACCTCCTCAGCTGAGGAAGATGTTCCCACC
TGCGGCTATCTGAACGTGCTCTCCAACAGCCGCTGGCGAGAGCGCTGGTGCCGAGTGAAAGATAACAAGCTCATTTTCCACAAGGACAGGACCGACCTGAAGACC
Show »

>AFAP1|60312|protein
MEELIVELRLFLELLDHEYLTSTVREKKAVITNILLRIQSSKGFDVKDHAQKQETANSLPAPPQMPLPEIPQPWLPPDSGPPPLPTSSLPEGYYEEAVPLSPGKA
PEYITSNYDSDAMSSSYESYDEEEEDGKGKKTRHQWPSEEASMDLVKDAKICAFLLRKKRFGQWTKLLCVIKDTKLLCYKSSKDQQPQMELPLQGCNITYIPKDS
KKKKHELKITQQGTDPLVLAVQSKEQAEQWLKVIKEAYSGCSGPVDSECPPPPSSPVHKAELEKKLSSERPSSDGEGVVENGITTCNGKEQVKRKKSSKSEAKGT
VSKVTGKKITKIISLGKKKPSTDEQTSSAEEDVPTCGYLNVLSNSRWRERWCRVKDNKLIFHKDRTDLKTHIVSIPLRGCEVIPGLDSKHPLTFRLLRNGQEVAV
LEASSSEDMGRWIGILLAETGSSTDPEALHYDYIDVEMSASVIQTAKQTFCFMNRRVISANPYLGGTSNGYAHPSGTALHYDDVPCINGSWEPEDGFPASCSRGL
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) 0 (1) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (2)
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
Linkage Studies Top