AutismKB 2.0

Evidence Details for NCF2


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Basic Information Top
Gene Symbol:NCF2 ( FLJ93058,NCF-2,NOXA2,P67-PHOX,P67PHOX )
Gene Full Name: neutrophil cytosolic factor 2
Band: 1q25.3
Quick LinksEntrez ID:4688; OMIM: 608515; Uniprot ID:NCF2_HUMAN; ENSEMBL ID: ENSG00000116701; HGNC ID: 7661
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>NCF2|4688|nucleotide
ATGTCCCTGGTGGAGGCCATCAGCCTCTGGAATGAAGGGGTGCTGGCAGCGGACAAGAAGGACTGGAAGGGAGCCCTGGATGCCTTCAGTGCCGTCCAGGACCCC
CACTCCCGGATTTGCTTCAACATTGGCTGCATGTACACTATCCTGAAGAACATGACTGAAGCAGAGAAGGCCTTTACCAGAAGCATTAACCGAGACAAGCACTTG
GCAGTGGCTTACTTCCAACGAGGGATGCTCTACTACCAGACAGAGAAATATGATTTGGCTATCAAAGACCTTAAAGAAGCCTTGATTCAGCTTCGAGGGAACCAG
CTGATAGACTATAAGATCCTGGGGCTCCAGTTCAAGCTGTTTGCCTGTGAGGTGTTATATAACATTGCTTTCATGTATGCCAAGAAGGAGGAATGGAAAAAAGCT
GAAGAACAGTTAGCATTGGCCACGAGCATGAAGTCTGAGCCCAGACATTCCAAAATCGACAAGGCGATGGAGTGTGTCTGGAAGCAGAAGCTATATGAGCCAGTG
GTGATCCCTGTGGGCAAGCTGTTTCGACCAAATGAGAGACAAGTGGCTCAGCTGGCCAAGAAGGATTACCTAGGCAAGGCGACGGTCGTGGCATCTGTGGTGGAT
CAAGACAGTTTCTCTGGGTTTGCCCCTCTGCAACCACAGGCAGCTGAGCCTCCACCCAGACCGAAAACCCCAGAGATCTTCAGGGCTCTGGAAGGGGAGGCTCAC
CGTGTGCTATTTGGGTTTGTGCCTGAGACAAAAGAAGAGCTCCAGGTCATGCCAGGGAACATTGTCTTTGTCTTGAAGAAGGGCAATGATAACTGGGCCACGGTC
ATGTTCAACGGGCAGAAGGGGCTTGTTCCCTGCAACTACCTTGAACCAGTTGAGCTGCGGATCCACCCTCAGCAGCAGCCCCAGGAGGAAAGCTCTCCGCAGTCC
GACATCCCAGCTCCTCCTAGTTCCAAAGCCCCTGGAAGACCCCAGCTGTCACCAGGCCAGAAACAAAAAGAAGAGCCTAAGGAAGTGAAGCTCAGTGTTCCCATG
CCCTACACACTCAAGGTGCACTACAAGTACACGGTAGTCATGAAGACTCAGCCCGGGCTCCCCTACAGCCAGGTCCGGGACATGGTGTCTAAGAAACTGGAGCTC
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>NCF2|4688|protein
MSLVEAISLWNEGVLAADKKDWKGALDAFSAVQDPHSRICFNIGCMYTILKNMTEAEKAFTRSINRDKHLAVAYFQRGMLYYQTEKYDLAIKDLKEALIQLRGNQ
LIDYKILGLQFKLFACEVLYNIAFMYAKKEEWKKAEEQLALATSMKSEPRHSKIDKAMECVWKQKLYEPVVIPVGKLFRPNERQVAQLAKKDYLGKATVVASVVD
QDSFSGFAPLQPQAAEPPPRPKTPEIFRALEGEAHRVLFGFVPETKEELQVMPGNIVFVLKKGNDNWATVMFNGQKGLVPCNYLEPVELRIHPQQQPQEESSPQS
DIPAPPSSKAPGRPQLSPGQKQKEEPKEVKLSVPMPYTLKVHYKYTVVMKTQPGLPYSQVRDMVSKKLELRLEHTKLSYRPRDSNELVPLSEDSMKDAWGQVKNY
CLTLWCENTVGDQGFPDEPKESEKADANNQTTEPQLKKGSQVEALFSYEATQPEDLEFQEGDIILVLSKVNEEWLEGECKGKVGIFPKVFVEDCATTDLESTRRE
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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 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (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
Bremer, 2011 - aCGHASD - - - - 223 - 223
Linkage Studies Top