Evidence Details for NSF
Basic Information Top
Gene Symbol: | NSF ( SKD2 ) |
---|---|
Gene Full Name: | N-ethylmaleimide-sensitive factor |
Band: | 17q21.31 |
Quick Links | Entrez ID:4905; OMIM: 601633; Uniprot ID:NSF_HUMAN; ENSEMBL ID: ENSG00000073969; HGNC ID: 8016 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>NSF|4905|nucleotide
ATGGCGGGCCGGAGCATGCAAGCGGCAAGATGTCCTACAGATGAATTATCTTTAACCAATTGTGCAGTTGTGAATGAAAAGGATTTCCAGTCTGGCCAGCATGTG
ATTGTGAGGACCTCTCCCAATCACAGGTACACATTTACACTGAAGACACATCCATCGGTGGTTCCAGGGAGCATTGCATTCAGTTTACCTCAGAGAAAATGGGCT
GGGCTTTCTATTGGGCAAGAAATAGAAGTCTCCTTATATACATTTGACAAAGCCAAACAGTGTATTGGCACAATGACCATCGAGATTGATTTCCTGCAGAAAAAA
AGCATTGACTCCAACCCTTATGACACCGACAAGATGGCAGCAGAATTTATTCAGCAATTCAACAACCAGGCCTTCTCAGTGGGACAACAGCTTGTCTTTAGCTTC
AATGAAAAGCTTTTTGGCTTACTGGTGAAGGACATTGAAGCCATGGATCCTAGCATCCTGAAGGGAGAGCCTGCGACAGGGAAAAGGCAGAAGATTGAAGTAGGA
CTGGTTGTTGGAAACAGTCAAGTTGCATTTGAAAAAGCAGAAAATTCGTCACTTAATCTTATTGGCAAAGCTAAAACCAAGGAAAATCGCCAATCAATTATCAAT
CCTGACTGGAACTTTGAAAAAATGGGAATAGGAGGTCTAGACAAGGAATTTTCAGATATTTTCCGACGAGCATTTGCTTCCCGAGTATTTCCTCCAGAGATTGTG
GAGCAGATGGGTTGTAAACATGTTAAAGGCATCCTGTTATATGGACCCCCAGGTTGTGGTAAGACTCTCTTGGCTCGACAGATTGGCAAGATGTTGAATGCAAGA
GAGCCCAAAGTGGTCAATGGGCCAGAAATCCTTAACAAATATGTGGGAGAATCAGAGGCTAACATTCGCAAACTTTTTGCTGATGCTGAAGAGGAGCAAAGGAGG
CTTGGTGCTAACAGTGGTTTGCACATCATCATCTTTGATGAAATTGATGCCATCTGCAAGCAGAGAGGGAGCATGGCTGGTAGCACGGGAGTTCATGACACTGTT
GTCAACCAGTTGCTGTCCAAAATTGATGGCGTGGAGCAGCTAAACAACATCCTAGTCATTGGAATGACCAATAGACCAGATCTGATAGATGAGGCTCTTCTTAGA
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ATGGCGGGCCGGAGCATGCAAGCGGCAAGATGTCCTACAGATGAATTATCTTTAACCAATTGTGCAGTTGTGAATGAAAAGGATTTCCAGTCTGGCCAGCATGTG
ATTGTGAGGACCTCTCCCAATCACAGGTACACATTTACACTGAAGACACATCCATCGGTGGTTCCAGGGAGCATTGCATTCAGTTTACCTCAGAGAAAATGGGCT
GGGCTTTCTATTGGGCAAGAAATAGAAGTCTCCTTATATACATTTGACAAAGCCAAACAGTGTATTGGCACAATGACCATCGAGATTGATTTCCTGCAGAAAAAA
AGCATTGACTCCAACCCTTATGACACCGACAAGATGGCAGCAGAATTTATTCAGCAATTCAACAACCAGGCCTTCTCAGTGGGACAACAGCTTGTCTTTAGCTTC
AATGAAAAGCTTTTTGGCTTACTGGTGAAGGACATTGAAGCCATGGATCCTAGCATCCTGAAGGGAGAGCCTGCGACAGGGAAAAGGCAGAAGATTGAAGTAGGA
CTGGTTGTTGGAAACAGTCAAGTTGCATTTGAAAAAGCAGAAAATTCGTCACTTAATCTTATTGGCAAAGCTAAAACCAAGGAAAATCGCCAATCAATTATCAAT
CCTGACTGGAACTTTGAAAAAATGGGAATAGGAGGTCTAGACAAGGAATTTTCAGATATTTTCCGACGAGCATTTGCTTCCCGAGTATTTCCTCCAGAGATTGTG
GAGCAGATGGGTTGTAAACATGTTAAAGGCATCCTGTTATATGGACCCCCAGGTTGTGGTAAGACTCTCTTGGCTCGACAGATTGGCAAGATGTTGAATGCAAGA
GAGCCCAAAGTGGTCAATGGGCCAGAAATCCTTAACAAATATGTGGGAGAATCAGAGGCTAACATTCGCAAACTTTTTGCTGATGCTGAAGAGGAGCAAAGGAGG
CTTGGTGCTAACAGTGGTTTGCACATCATCATCTTTGATGAAATTGATGCCATCTGCAAGCAGAGAGGGAGCATGGCTGGTAGCACGGGAGTTCATGACACTGTT
GTCAACCAGTTGCTGTCCAAAATTGATGGCGTGGAGCAGCTAAACAACATCCTAGTCATTGGAATGACCAATAGACCAGATCTGATAGATGAGGCTCTTCTTAGA
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>NSF|4905|protein
MAGRSMQAARCPTDELSLTNCAVVNEKDFQSGQHVIVRTSPNHRYTFTLKTHPSVVPGSIAFSLPQRKWAGLSIGQEIEVSLYTFDKAKQCIGTMTIEIDFLQKK
SIDSNPYDTDKMAAEFIQQFNNQAFSVGQQLVFSFNEKLFGLLVKDIEAMDPSILKGEPATGKRQKIEVGLVVGNSQVAFEKAENSSLNLIGKAKTKENRQSIIN
PDWNFEKMGIGGLDKEFSDIFRRAFASRVFPPEIVEQMGCKHVKGILLYGPPGCGKTLLARQIGKMLNAREPKVVNGPEILNKYVGESEANIRKLFADAEEEQRR
LGANSGLHIIIFDEIDAICKQRGSMAGSTGVHDTVVNQLLSKIDGVEQLNNILVIGMTNRPDLIDEALLRPGRLEVKMEIGLPDEKGRLQILHIHTARMRGHQLL
SADVDIKELAVETKNFSGAELEGLVRAAQSTAMNRHIKASTKVEVDMEKAESLQVTRGDFLASLENDIKPAFGTNQEDYASYIMNGIIKWGDPVTRVLDDGELLV
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MAGRSMQAARCPTDELSLTNCAVVNEKDFQSGQHVIVRTSPNHRYTFTLKTHPSVVPGSIAFSLPQRKWAGLSIGQEIEVSLYTFDKAKQCIGTMTIEIDFLQKK
SIDSNPYDTDKMAAEFIQQFNNQAFSVGQQLVFSFNEKLFGLLVKDIEAMDPSILKGEPATGKRQKIEVGLVVGNSQVAFEKAENSSLNLIGKAKTKENRQSIIN
PDWNFEKMGIGGLDKEFSDIFRRAFASRVFPPEIVEQMGCKHVKGILLYGPPGCGKTLLARQIGKMLNAREPKVVNGPEILNKYVGESEANIRKLFADAEEEQRR
LGANSGLHIIIFDEIDAICKQRGSMAGSTGVHDTVVNQLLSKIDGVEQLNNILVIGMTNRPDLIDEALLRPGRLEVKMEIGLPDEKGRLQILHIHTARMRGHQLL
SADVDIKELAVETKNFSGAELEGLVRAAQSTAMNRHIKASTKVEVDMEKAESLQVTRGDFLASLENDIKPAFGTNQEDYASYIMNGIIKWGDPVTRVLDDGELLV
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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 (2) | 0 (0) | 0 (0) | 2 (2) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 2 (4) |
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 | aCGH | ASD | - | - | - | - | 119 | 54 | 173 | ||
Levy, 2011 | Simons Simplex Collection | aCGH | - | - | ASD | 915 | 915 | - | - | - | - | - |
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
Microarray Studies: 2
Reference | Source | Tissue | #Subjects (% Women) |
ADI-R | ADOS | Endo- pheno | Diagnosis | Normal Controls (% Women) |
Fold Change | Up/ Down | P/Q value | |
---|---|---|---|---|---|---|---|---|---|---|---|---|
Voineagu, 2011_1 | Unknown | 16 frontal cortex(BA9) and 13 temporal cortex(BA41 | 16 (25.00%) | - | autism | 16 (6.25%) |
0.608528 | Down | - | |||
| ||||||||||||
Voineagu, 2011_2 | Unknown | frontal, BA44/45 | 10 (0.00%) | - | autism | 6 (0.00%) |
0.748548 | Down | 0.170488 | |||
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Proteomics Studies:0
Reference | Source | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
---|---|---|---|---|---|---|---|---|---|
No Evidence. |
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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