AutismKB 2.0

Evidence Details for FSIP2


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Basic Information Top
Gene Symbol:FSIP2 ( DKFZp781I24108,FLJ34780,FLJ44048,FLJ44063,FLJ44101,FLJ44116 )
Gene Full Name: fibrous sheath interacting protein 2
Band: 2q32.1
Quick LinksEntrez ID:401024; OMIM: NA; Uniprot ID:; ENSEMBL ID: ENSG00000188738; HGNC ID: 21675
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>FSIP2|401024|nucleotide
ATGAAGTTTCAACTGTGGTCCTCTCAGATCAGGCCTCTCGGACCGATTTTCCCAGCTCTGCGGGCGCTCTACGCGCTGGCGCGAGCCGCCCCTCAGGAGGCCACC
GCCCTTCTGGGGCCGCTACCATTGGAAGCCTGGAACGCGGGGGGCGGGGCTGAGGTCGTTGGGCTCTGGCCATTCCTGGTCAGGTCCGGACAGAGGGACAACGGG
GTGCTAGAGAAGGAGAGCGGGGCGGGTGAGGAAGGGGCTGAGGGGGCTGTGCCGGCCATGGAGCTGTACCTCGGCGCCTGCTCCAAGCCTGCCAAAGTCGCCGTC
ACCAAGACGGTCGCCAGCGTCCTGGCCGCGGACACCCAGCAGTGCAGAGACGGCGTGCACAAAACCCACTTTGCAGGGGTTGGACCGGCTCAGCTACTGGACCTA
CCTCTCGGGGTCAAGCTGCCTGTGATCCCAGGAAGCAATGCTGTATTCTATACTACGAATTTCGGTGAAAAGCTTTTTCGACCTTCTTATGGTTTTAACCTGACT
GATCCCTATTGTCGACTTTTGGAAAACCAATATAAAAGCCTCCATGATCCACATTTAAAAGCATACTATAAGCGCAAAGATATTTTGAAGAGATTAAAGAAAGGT
GGCTACATCACCAGCAATAATAAAGTTGTATGTACCTTGAGAGAATTGAATAAGTACAGGCAATATCTTACCAGTTTAAAATTAGACTTTGAGAGAAACTATATA
AAAGAACAAAGAATACTTGCAAAACAACTACATAACATACCGGAAAACAATCAAATCCCTCAACATTGTGATGTTGCACAAGTCCAAAACTGGTTGTTAAAGGAG
GGCACTGAATCTATTAAGGACCAGGAGCGGCTGATGAGGCATAGATATTTGGATATGATAAGTAGAAAACTAGAACAACTTGAACGCACAGCAGAAGAACAACGC
CTATTCCTAATGGATAGAGAAGAAAGACGACAGCGGGAACACACAAGAAGAAAACTTACTCTTCGTAGAAAAATAGAAGAGGAATGGAAGACAAAAGAGATGTTA
CTTCTGACAAGGATGGCAGAAGATGTTAAAAGAGAAGAGAGGATAGAAGAACAACAGCATAGAAACAGAGAAGAGAGTGACAGGAAGAAACAAGATCTTCTAGAG
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>FSIP2|401024|protein
MKFQLWSSQIRPLGPIFPALRALYALARAAPQEATALLGPLPLEAWNAGGGAEVVGLWPFLVRSGQRDNGVLEKESGAGEEGAEGAVPAMELYLGACSKPAKVAV
TKTVASVLAADTQQCRDGVHKTHFAGVGPAQLLDLPLGVKLPVIPGSNAVFYTTNFGEKLFRPSYGFNLTDPYCRLLENQYKSLHDPHLKAYYKRKDILKRLKKG
GYITSNNKVVCTLRELNKYRQYLTSLKLDFERNYIKEQRILAKQLHNIPENNQIPQHCDVAQVQNWLLKEGTESIKDQERLMRHRYLDMISRKLEQLERTAEEQR
LFLMDREERRQREHTRRKLTLRRKIEEEWKTKEMLLLTRMAEDVKREERIEEQQHRNREESDRKKQDLLEKKMAYHLQKMQDTGFNGEDIGKNTFKYRGQDGTHA
SPKNKKKTSEDIMLVYPAGDQNTYKETHGHTANAAHQRQNSSNNFTKKNSASVVYQADVQDNGINQKRDGMVSKNSSIFDDRGGINISGQGSIISAQVSPTRNFS
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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 (3) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 4 (5)
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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Linkage Studies Top