AutismKB 2.0

Evidence Details for ITSN2


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Basic Information Top
Gene Symbol:ITSN2 ( KIAA1256,PRO2015,SH3D1B,SH3P18,SWA,SWAP )
Gene Full Name: intersectin 2
Band: 2p23.3
Quick LinksEntrez ID:50618; OMIM: 604464; Uniprot ID:ITSN2_HUMAN; ENSEMBL ID: ENSG00000198399; HGNC ID: 6184
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ITSN2|50618|nucleotide
ATGATGGCTCAGTTTCCCACAGCTATGAATGGAGGGCCAAACATGTGGGCTATTACCTCTGAAGAACGTACTAAGCATGACAGGCAGTTTGATAACCTCAAACCT
TCAGGAGGTTACATAACAGGTGATCAAGCACGTAATTTTTTCCTACAATCAGGTCTGCCGGCCCCTGTTTTAGCTGAAATATGGGCTTTATCAGACCTAAACAAG
GATGGGAAGATGGATCAGCAAGAGTTCTCCATAGCTATGAAACTCATCAAACTGAAGCTTCAAGGCCAACAGTTGCCTGTGGTTCTCCCTCCTATTATGAAGCAA
CCCCCTATGTTTTCTCCATTAATTTCTGCTCGTTTTGGAATGGGAAGCATGCCCAATCTGTCCATTCCTCAGCCATTGCCTCCAGCTGCACCTATAACATCATTG
TCTTCTGCGACTTCAGGGACCAACCTTCCTCCCTTAATGATGCCCACTCCCCTAGTGCCTTCTGTTAGCACATCATCATTACCAAATGGAACCGCCAGTCTCATT
CAGCCTTTACCCATTCCTTATTCTTCTTCAACATTGCCTCATGGGTCATCTTATAGTCTGATGATGGGAGGATTTGGAGGTGCTAGTATACAGAAAGCGCAGTCT
CTGATTGATTTAGGATCTAGTAGCTCAACTTCCTCGACTGCTTCACTCTCAGGGAACTCACCCAAGACTGGGACCTCAGAGTGGGCAGTTCCTCAGCCTACAAGA
TTAAAATATCGGCAAAAATTTAATACTCTTGACAAAAGTATGAGTGGATATCTCTCAGGTTTTCAAGCTAGAAATGCCCTTCTTCAGTCAAATCTTTCTCAAACT
CAGCTGGCTACTATTTGGACTCTGGCTGACGTTGATGGTGATGGACAGCTAAAAGCAGAAGAGTTTATTCTTGCAATGCACCTTACTGACATGGCCAAAGCTGGA
CAGCCATTACCACTGACTTTACCTCCTGAGCTTGTTCCTCCATCTTTCAGAGGAGGAAAGCAAATTGATTCCATTAATGGAACTCTGCCTTCATATCAGAAAATG
CAAGAAGAGGAGCCTCAGAAGAAATTACCAGTTACTTTTGAGGACAAACGGAAAGCCAACTATGAGCGAGGGAACATGGAGCTGGAAAAGCGACGCCAAGCCTTG
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>ITSN2|50618|protein
MMAQFPTAMNGGPNMWAITSEERTKHDRQFDNLKPSGGYITGDQARNFFLQSGLPAPVLAEIWALSDLNKDGKMDQQEFSIAMKLIKLKLQGQQLPVVLPPIMKQ
PPMFSPLISARFGMGSMPNLSIPQPLPPAAPITSLSSATSGTNLPPLMMPTPLVPSVSTSSLPNGTASLIQPLPIPYSSSTLPHGSSYSLMMGGFGGASIQKAQS
LIDLGSSSSTSSTASLSGNSPKTGTSEWAVPQPTRLKYRQKFNTLDKSMSGYLSGFQARNALLQSNLSQTQLATIWTLADVDGDGQLKAEEFILAMHLTDMAKAG
QPLPLTLPPELVPPSFRGGKQIDSINGTLPSYQKMQEEEPQKKLPVTFEDKRKANYERGNMELEKRRQALMEQQQREAERKAQKEKEEWERKQRELQEQEWKKQL
ELEKRLEKQRELERQREEERRKDIERREAAKQELERQRRLEWERIRRQELLNQKNREQEEIVRLNSKKKNLHLELEALNGKHQQISGRLQDVRLKKQTQKTELEV
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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 (1) 0 (0) 0 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top