AutismKB 2.0

Evidence Details for FILIP1


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Basic Information Top
Gene Symbol:FILIP1 ( FILIP,KIAA1275 )
Gene Full Name: filamin A interacting protein 1
Band: 6q14.1
Quick LinksEntrez ID:27145; OMIM: 607307; Uniprot ID:FLIP1_HUMAN; ENSEMBL ID: ENSG00000118407; HGNC ID: 21015
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>FILIP1|27145|nucleotide
ATGAGATCTCGAAACCAAGGTGGTGAAAGTGCATCTGATGGGCATATCTCCTGTCCCAAGCCCTCCATCATCGGCAATGCTGGTGAAAAAAGTCTCTCAGAAGAT
GCAAAAAAGAAGAAGAAATCAAATAGGAAGGAGGATGATGTCATGGCCTCAGGAACTGTCAAACGACACCTAAAAACATCTGGAGAATGTGAACGAAAAACTAAG
AAATCCCTGGAGTTATCCAAAGAAGACCTCATCCAACTACTCAGTATAATGGAAGGGGAGTTGCAGGCCAGAGAAGATGTGATCCACATGCTGAAGACAGAGAAA
ACCAAGCCTGAGGTTCTGGAGGCTCATTACGGGTCTGCGGAGCCAGAGAAAGTGCTGCGGGTCCTGCACCGAGATGCCATTCTTGCCCAGGAGAAATCCATAGGA
GAAGATGTCTATGAGAAACCGATTTCAGAGCTGGACAGACTTGAGGAAAAACAGAAAGAAACCTACCGGCGCATGCTAGAGCAGCTGTTGCTGGCCGAGAAGTGT
CATAGGCGCACCGTATACGAGTTAGAGAACGAGAAGCATAAACACACTGACTACATGAACAAGAGCGACGACTTCACCAACCTGCTGGAGCAGGAGCGGGAGAGG
TTAAAAAAGCTCCTTGAACAAGAAAAGGCTTATCAAGCCCGCAAAGAAAAGGAAAATGCTAAACGACTCAATAAACTAAGAGATGAGCTTGTTAAACTCAAATCC
TTTGCACTCATGCTGGTGGATGAAAGACAAATGCACATTGAACAACTTGGCCTGCAAAGCCAGAAAGTACAGGATCTTACTCAGAAGCTGAGGGAAGAAGAAGAG
AAGCTCAAAGCCATTACTTCCAAATCCAAAGAAGACAGACAGAAATTGCTCAAGTTAGAAGTGGACTTTGAACACAAGGCTTCGAGGTTTTCTCAAGAGCATGAA
GAGATGAACGCTAAACTGGCTAATCAAGAGTCTCACAATAGGCAACTTAGACTCAAGCTGGTTGGCTTAACCCAAAGAATCGAGGAGCTAGAAGAGACCAACAAA
AATCTGCAGAAGGCAGAGGAAGAACTTCAAGAATTAAGAGATAAAATTGCCAAAGGAGAATGTGGAAACTCTAGCCTCATGGCAGAAGTGGAAAATCTTCGAAAG
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>FILIP1|27145|protein
MRSRNQGGESASDGHISCPKPSIIGNAGEKSLSEDAKKKKKSNRKEDDVMASGTVKRHLKTSGECERKTKKSLELSKEDLIQLLSIMEGELQAREDVIHMLKTEK
TKPEVLEAHYGSAEPEKVLRVLHRDAILAQEKSIGEDVYEKPISELDRLEEKQKETYRRMLEQLLLAEKCHRRTVYELENEKHKHTDYMNKSDDFTNLLEQERER
LKKLLEQEKAYQARKEKENAKRLNKLRDELVKLKSFALMLVDERQMHIEQLGLQSQKVQDLTQKLREEEEKLKAITSKSKEDRQKLLKLEVDFEHKASRFSQEHE
EMNAKLANQESHNRQLRLKLVGLTQRIEELEETNKNLQKAEEELQELRDKIAKGECGNSSLMAEVENLRKRVLEMEGKDEEITKTESQCRELRKKLQEEEHHSKE
LRLEVEKLQKRMSELEKLEEAFSKSKSECTQLHLNLEKEKNLTKDLLNELEVVKSRVKELECSESRLEKAELSLKDDLTKLKSFTVMLVDERKNMMEKIKQEERK
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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 (1) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 1 (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
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Linkage Studies Top