AutismKB 2.0

Evidence Details for NT5C2


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Basic Information Top
Gene Symbol:NT5C2 ( GMP,NT5B,PNT5,cN-II )
Gene Full Name: 5'-nucleotidase, cytosolic II
Band: 10q24.32-q24.33
Quick LinksEntrez ID:22978; OMIM: 600417; Uniprot ID:5NTC_HUMAN; ENSEMBL ID: ENSG00000076685; HGNC ID: 8022
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>NT5C2|22978|nucleotide
ATGTCAACCTCCTGGAGTGATCGGTTACAGAATGCAGCAGATATGCCTGCTAACATGGATAAGCATGCCCTGAAAAAGTATCGTCGAGAAGCCTATCATCGGGTG
TTTGTGAACCGAAGTTTAGCAATGGAAAAGATAAAGTGTTTTGGTTTTGATATGGATTATACCCTTGCTGTGTACAAGTCCCCAGAGTATGAGTCCCTTGGTTTT
GAGCTTACTGTGGAGAGATTAGTTTCTATTGGCTATCCCCAGGAGTTGCTCAGCTTTGCTTATGATTCTACATTCCCTACCAGGGGACTTGTCTTTGACACACTG
TATGGAAATCTTTTGAAAGTCGATGCCTATGGAAACCTCTTGGTCTGTGCACATGGATTTAACTTTATAAGGGGACCAGAAACTAGAGAACAGTATCCAAATAAA
TTTATCCAGCGAGATGATACTGAAAGATTTTACATTCTGAACACACTATTCAACCTACCAGAGACCTACCTGTTGGCCTGCCTAGTAGATTTTTTTACTAATTGT
CCCAGATATACCAGTTGTGAAACAGGATTTAAAGATGGGGACCTCTTCATGTCCTACCGGAGTATGTTCCAGGATGTAAGAGATGCTGTTGACTGGGTTCATTAC
AAGGGCTCCCTTAAGGAAAAGACAGTTGAAAATCTTGAGAAGTATGTAGTCAAAGATGGAAAACTGCCTTTGCTTCTGAGCCGGATGAAGGAAGTAGGGAAAGTA
TTTCTTGCTACCAACAGTGACTATAAATATACAGATAAAATTATGACTTACCTGTTTGACTTCCCACATGGCCCCAAGCCTGGGAGCTCCCATCGACCATGGCAG
TCCTACTTTGACTTGATCTTGGTGGATGCACGGAAACCACTCTTTTTTGGAGAAGGCACAGTACTGCGTCAGGTGGATACTAAAACTGGCAAGCTGAAAATTGGT
ACCTACACAGGGCCCCTACAGCATGGTATCGTCTACTCAGGAGGTTCTTCTGATACGATCTGTGACCTGTTGGGAGCCAAGGGAAAAGACATTTTGTATATTGGA
GATCACATTTTTGGGGACATTTTAAAATCAAAGAAACGGCAAGGGTGGCGAACTTTTTTGGTGATTCCTGAACTCGCACAGGAGCTACATGTCTGGACTGACAAG
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>NT5C2|22978|protein
MSTSWSDRLQNAADMPANMDKHALKKYRREAYHRVFVNRSLAMEKIKCFGFDMDYTLAVYKSPEYESLGFELTVERLVSIGYPQELLSFAYDSTFPTRGLVFDTL
YGNLLKVDAYGNLLVCAHGFNFIRGPETREQYPNKFIQRDDTERFYILNTLFNLPETYLLACLVDFFTNCPRYTSCETGFKDGDLFMSYRSMFQDVRDAVDWVHY
KGSLKEKTVENLEKYVVKDGKLPLLLSRMKEVGKVFLATNSDYKYTDKIMTYLFDFPHGPKPGSSHRPWQSYFDLILVDARKPLFFGEGTVLRQVDTKTGKLKIG
TYTGPLQHGIVYSGGSSDTICDLLGAKGKDILYIGDHIFGDILKSKKRQGWRTFLVIPELAQELHVWTDKSSLFEELQSLDIFLAELYKHLDSSSNERPDISSIQ
RRIKKVTHDMDMCYGMMGSLFRSGSRQTLFASQVMRYADLYAASFINLLYYPFSYLFRAAHVLMPHESTVEHTHVDINEMESPLATRNRTSVDFKDTDYKRHQLT
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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 (1) 0 (0) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 12 (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
Al-Sarraj Y, 2014 Qatari -autism - - - - 1 9 10
Linkage Studies Top