AutismKB 2.0

Evidence Details for NISCH


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:NISCH ( FLJ14425,FLJ40413,FLJ90519,I-1,IRAS,KIAA0975 )
Gene Full Name: nischarin
Band: 3p21.1
Quick LinksEntrez ID:11188; OMIM: NA; Uniprot ID:NISCH_HUMAN; ENSEMBL ID: ENSG00000010322; HGNC ID: 18006
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>NISCH|11188|nucleotide
ATGGCGACCGCGCGCACCTTCGGGCCCGAGCGGGAAGCCGAGCCGGCCAAGGAAGCGCGCGTCGTGGGCTCGGAGCTTGTGGACACTTATACGGTTTACATCATC
CAGGTCACTGATGGCAGCCATGAGTGGACAGTAAAGCACCGCTACAGCGACTTCCATGACCTGCATGAAAAGCTCGTTGCAGAGAGAAAGATTGATAAAAATCTG
CTTCCGCCCAAAAAGATAATTGGGAAAAACTCAAGAAGCTTGGTGGAGAAGAGGGAGAAGGATCTGGAGGTCTACCTCCAGAAGCTCCTGGCTGCCTTCCCTGGC
GTGACCCCCAGAGTACTGGCCCACTTCTTGCATTTTCACTTCTATGAGATAAATGGCATCACCGCGGCACTGGCTGAAGAGCTCTTTGAGAAAGGAGAACAGCTC
CTGGGGGCCGGCGAGGTCTTTGCCATTGGACCCCTGCAGCTGTATGCCGTCACGGAGCAGCTGCAGCAGGGAAAGCCCACGTGCGCCAGTGGGGATGCCAAGACC
GACCTCGGGCACATCCTGGACTTCACCTGTCGCCTTAAGTACCTTAAGGTTTCTGGCACAGAAGGACCTTTTGGGACCAGCAACATTCAGGAGCAGCTCCTGCCG
TTCGACCTATCAATATTCAAGTCCCTGCATCAGGTGGAGATAAGTCACTGTGATGCTAAGCACATCAGAGGGCTGGTCGCATCGAAGCCCACCTTAGCCACGCTG
AGTGTCCGCTTCTCAGCAACCTCGATGAAGGAAGTCCTTGTTCCTGAAGCCTCAGAATTTGATGAGTGGGAGCCTGAAGGCACAACCCTAGAAGGCCCTGTGACT
GCCGTCATCCCCACTTGGCAGGCATTGACCACGCTTGACCTGAGCCACAACAGCATCTCCGAGATCGACGAGTCTGTGAAACTGATCCCAAAGATTGAGTTCCTG
GACCTGAGTCACAATGGATTGCTGGTTGTGGACAATCTGCAGCACCTGTATAACCTTGTGCATCTGGACCTGTCCTACAACAAGCTCTCCTCCTTGGAAGGGCTT
CACACCAAGCTGGGGAACATCAAGACCTTAAACCTGGCAGGCAACCTCCTAGAGAGTCTGAGTGGCCTGCACAAGCTCTACTCACTGGTCAACCTGGATCTCCGG
Show »

>NISCH|11188|protein
MATARTFGPEREAEPAKEARVVGSELVDTYTVYIIQVTDGSHEWTVKHRYSDFHDLHEKLVAERKIDKNLLPPKKIIGKNSRSLVEKREKDLEVYLQKLLAAFPG
VTPRVLAHFLHFHFYEINGITAALAEELFEKGEQLLGAGEVFAIGPLQLYAVTEQLQQGKPTCASGDAKTDLGHILDFTCRLKYLKVSGTEGPFGTSNIQEQLLP
FDLSIFKSLHQVEISHCDAKHIRGLVASKPTLATLSVRFSATSMKEVLVPEASEFDEWEPEGTTLEGPVTAVIPTWQALTTLDLSHNSISEIDESVKLIPKIEFL
DLSHNGLLVVDNLQHLYNLVHLDLSYNKLSSLEGLHTKLGNIKTLNLAGNLLESLSGLHKLYSLVNLDLRDNRIEQMEEVRSIGSLPCLEHVSLLNNPLSIIPDY
RTKVLAQFGERASEVCLDDTVTTEKELDTVEVLKAIQKAKEVKSKLSNPEKKGGEDSRLSAAPCIRPSSSPPTVAPASASLPQPILSNQGIMFVQEEALASSLSS
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 (2) 0 (0) 0 (0) 0 (0) 0 (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
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Linkage Studies Top