AutismKB 2.0

Evidence Details for NUFIP2


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Basic Information Top
Gene Symbol:NUFIP2 ( 182-FIP,82-FIP,FIP-82,FLJ10976,KIAA1321,MGC117262 )
Gene Full Name: nuclear fragile X mental retardation protein interacting protein 2
Band: 17q11.1
Quick LinksEntrez ID:57532; OMIM: 609356; Uniprot ID:NUFP2_HUMAN; ENSEMBL ID: ENSG00000108256; HGNC ID: 17634
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>NUFIP2|57532|nucleotide
ATGGAGGAGAAGCCCGGCCAGCCACAGCCTCAGCACCATCACAGCCACCACCATCCGCACCATCACCCTCAGCAGCAGCAGCAGCAGCCGCACCACCACCACCAT
TATTATTTCTACAACCACAGCCACAACCACCACCACCACCATCATCACCAGCAGCCTCACCAATACCTGCAGCATGGAGCCGAGGGCAGCCCCAAGGCCCAGCCA
AAGCCGCTGAAACATGAGCAGAAACACACCCTCCAGCAGCACCAGGAAACGCCGAAGAAGAAAACAGGCTATGGTGAACTAAACGGTAATGCTGGAGAAAGAGAA
ATATCTTTAAAGAACCTGAGTTCTGATGAAGCCACCAACCCTATTTCCAGGGTCCTCAATGGCAACCAGCAAGTTGTAGACACTAGCCTGAAGCAGACTGTAAAG
GCCAACACCTTTGGGAAAGCAGGAATTAAAACCAAGAATTTCATTCAGAAAAACAGTATGGACAAAAAGAATGGGAAGTCTTATGAAAATAAATCTGGAGAGAAT
CAGTCTGTAGATAAGTCTGATACTATACCAATTCCAAATGGTGTGGTAACAAATAATTCTGGTTATATTACTAATGGTTATATGGGTAAAGGAGCAGATAATGAT
GGTAGTGGATCTGAGAGCGGATATACAACTCCTAAAAAAAGGAAAGCTAGGCGCAATAGTGCCAAGGGTTGTGAAAACCTTAATATAGTGCAGGACAAAATAATG
CAACAAGAGACCAGTGTCCCAACCTTAAAACAGGGACTTGAAACTTTCAAGCCTGACTATAGTGAACAAAAGGGAAATCGAGTAGATGGTTCGAAGCCCATTTGG
AAGTATGAAACTGGGCCTGGAGGAACAAGTCGAGGAAAACCTGCTGTGGGTGATATGCTTCGGAAAAGCTCAGATAGTAAACCTGGTGTGAGCAGCAAAAAGTTT
GATGATCGGCCCAAAGGAAAGCATGCTTCAGCTGTTGCCTCCAAAGAGGACTCGTGGACCCTATTTAAACCACCCCCAGTTTTTCCAGTGGACAATAGCAGTGCT
AAAATAGTTCCTAAAATAAGTTATGCAAGCAAAGTTAAGGAAAACCTCAACAAAACTATACAGAACTCTTCTGTGTCACCAACTTCATCTTCATCATCTTCATCA
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>NUFIP2|57532|protein
MEEKPGQPQPQHHHSHHHPHHHPQQQQQQPHHHHHYYFYNHSHNHHHHHHHQQPHQYLQHGAEGSPKAQPKPLKHEQKHTLQQHQETPKKKTGYGELNGNAGERE
ISLKNLSSDEATNPISRVLNGNQQVVDTSLKQTVKANTFGKAGIKTKNFIQKNSMDKKNGKSYENKSGENQSVDKSDTIPIPNGVVTNNSGYITNGYMGKGADND
GSGSESGYTTPKKRKARRNSAKGCENLNIVQDKIMQQETSVPTLKQGLETFKPDYSEQKGNRVDGSKPIWKYETGPGGTSRGKPAVGDMLRKSSDSKPGVSSKKF
DDRPKGKHASAVASKEDSWTLFKPPPVFPVDNSSAKIVPKISYASKVKENLNKTIQNSSVSPTSSSSSSSSTGETQTQSSSRLSQVPMSALKSVTSANFSNGPVL
AGTDGNVYPPGGQPLLTTAANTLTPISSGTDSVLQDMSLTSAAVEQIKTSLFIYPSNMQTMLLSTAQVDLPSQTDQQNLGDIFQNQWGLSFINEPSAGPETVTGK
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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) 2 (6) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 5 (7)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top