Evidence Details for NUP205
Basic Information Top
| Gene Symbol: | NUP205 ( C7orf14 ) |
|---|---|
| Gene Full Name: | nucleoporin 205kDa |
| Band: | 7q33 |
| Quick Links | Entrez ID:23165; OMIM: NA; Uniprot ID:NU205_HUMAN; ENSEMBL ID: ENSG00000155561; HGNC ID: 18658 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>NUP205|23165|nucleotide
ATGGCGACGCCTTTGGCGGTAAATTCGGCTGCTAGTCTATGGGGTCCTTACAAAGACATTTGGCATAAAGTGGGAAATGCTCTTTGGAGAAGACAACCTGAAGCT
GTTCACCTTCTTGATAAGATTTTGAAGAAACACAAACCTGACTTCATCTCATTGTTCAAAAATCCGCCAAAAAATGTTCAACAGCATGAGAAGGTTCAGAAAGCC
AGTACAGAGGGAGTCGCCATTCAGGGTCAACAGGGAACTCGACTTCTTCCTGAACAGCTCATTAAAGAAGCCTTTATTCTCAGTGACCTTTTTGATATTGGAGAA
TTGGCAGCTGTTGAGCTTCTTCTTGCTGGAGAGCATCAACAGCCACATTTTCCTGGCCTTACCAGAGGATTAGTAGCTGTTCTTCTGTACTGGGATGGAAAGCGA
TGCATTGCGAATTCCTTGAAAGCCTTGATACAGTCTAGACGGGGAAAGACATGGACCCTAGAACTCAGTCCAGAGCTGGCTTCCATGACAACACGCTTTACAGAT
GAGCTGATGGAGCAAGGATTGACTTATAAAGTTCTTACGCTGGTGTCACAGATTGATGTGAATAATGAGTTTGAGAAACTACAGCGAGAGAGAGGTTTGGGCAGT
GAAAAACATCGCAAAGAGGTTTCTGATCTCATTAAGGAGTGCAGGCAGTCTCTTGCAGAAAGCCTTTTTGCCTGGGCTTGCCAGTCACCTTTAGGCAAAGAAGAC
ACTCTCCTCCTCATTGGACATTTGGAAAGAGTGACAGTTGAGGCTAATGGCTCACTGGATGCAGTGAATCTGGCTCTTCTTATGGCGCTTCTATACTGTTTTGAT
ATCAGTTTTATAGAGCAAAGCACAGAGGAACGAGATGATATGATTCATCAACTTCCACTGTTGACAGAAAAACAGTACATTGCAACAATTCACTCTCGTCTTCAG
GACTCACAGCTTTGGAAACTGCCTGGGCTCCAAGCCACTGTTAGACTTGCCTGGGCGCTGGCATTGAGGGGAATATCCCAGCTACCTGATGTGACAGCTCTGGCA
GAATTCACAGAGGCAGATGAAGCAATGGCAGAACTCGCAATTGCTGACAACGTTTTCCTGTTCCTCATGGAATCTGTAGTGGTATCAGAATACTTTTATCAGGAA
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ATGGCGACGCCTTTGGCGGTAAATTCGGCTGCTAGTCTATGGGGTCCTTACAAAGACATTTGGCATAAAGTGGGAAATGCTCTTTGGAGAAGACAACCTGAAGCT
GTTCACCTTCTTGATAAGATTTTGAAGAAACACAAACCTGACTTCATCTCATTGTTCAAAAATCCGCCAAAAAATGTTCAACAGCATGAGAAGGTTCAGAAAGCC
AGTACAGAGGGAGTCGCCATTCAGGGTCAACAGGGAACTCGACTTCTTCCTGAACAGCTCATTAAAGAAGCCTTTATTCTCAGTGACCTTTTTGATATTGGAGAA
TTGGCAGCTGTTGAGCTTCTTCTTGCTGGAGAGCATCAACAGCCACATTTTCCTGGCCTTACCAGAGGATTAGTAGCTGTTCTTCTGTACTGGGATGGAAAGCGA
TGCATTGCGAATTCCTTGAAAGCCTTGATACAGTCTAGACGGGGAAAGACATGGACCCTAGAACTCAGTCCAGAGCTGGCTTCCATGACAACACGCTTTACAGAT
GAGCTGATGGAGCAAGGATTGACTTATAAAGTTCTTACGCTGGTGTCACAGATTGATGTGAATAATGAGTTTGAGAAACTACAGCGAGAGAGAGGTTTGGGCAGT
GAAAAACATCGCAAAGAGGTTTCTGATCTCATTAAGGAGTGCAGGCAGTCTCTTGCAGAAAGCCTTTTTGCCTGGGCTTGCCAGTCACCTTTAGGCAAAGAAGAC
ACTCTCCTCCTCATTGGACATTTGGAAAGAGTGACAGTTGAGGCTAATGGCTCACTGGATGCAGTGAATCTGGCTCTTCTTATGGCGCTTCTATACTGTTTTGAT
ATCAGTTTTATAGAGCAAAGCACAGAGGAACGAGATGATATGATTCATCAACTTCCACTGTTGACAGAAAAACAGTACATTGCAACAATTCACTCTCGTCTTCAG
GACTCACAGCTTTGGAAACTGCCTGGGCTCCAAGCCACTGTTAGACTTGCCTGGGCGCTGGCATTGAGGGGAATATCCCAGCTACCTGATGTGACAGCTCTGGCA
GAATTCACAGAGGCAGATGAAGCAATGGCAGAACTCGCAATTGCTGACAACGTTTTCCTGTTCCTCATGGAATCTGTAGTGGTATCAGAATACTTTTATCAGGAA
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>NUP205|23165|protein
MATPLAVNSAASLWGPYKDIWHKVGNALWRRQPEAVHLLDKILKKHKPDFISLFKNPPKNVQQHEKVQKASTEGVAIQGQQGTRLLPEQLIKEAFILSDLFDIGE
LAAVELLLAGEHQQPHFPGLTRGLVAVLLYWDGKRCIANSLKALIQSRRGKTWTLELSPELASMTTRFTDELMEQGLTYKVLTLVSQIDVNNEFEKLQRERGLGS
EKHRKEVSDLIKECRQSLAESLFAWACQSPLGKEDTLLLIGHLERVTVEANGSLDAVNLALLMALLYCFDISFIEQSTEERDDMIHQLPLLTEKQYIATIHSRLQ
DSQLWKLPGLQATVRLAWALALRGISQLPDVTALAEFTEADEAMAELAIADNVFLFLMESVVVSEYFYQEEFYIRRVHNLITDFLALMPMKVKQLRNRADEDARM
IHMSMQMGNEPPISLRRDLEHLMLLIGELYKKNPFHLELALEYWCPTEPLQTPTIMGSYLGVAHQRPPQRQVVLSKFVRQMGDLLPPTIYIPYLKMLQGLANGPQ
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MATPLAVNSAASLWGPYKDIWHKVGNALWRRQPEAVHLLDKILKKHKPDFISLFKNPPKNVQQHEKVQKASTEGVAIQGQQGTRLLPEQLIKEAFILSDLFDIGE
LAAVELLLAGEHQQPHFPGLTRGLVAVLLYWDGKRCIANSLKALIQSRRGKTWTLELSPELASMTTRFTDELMEQGLTYKVLTLVSQIDVNNEFEKLQRERGLGS
EKHRKEVSDLIKECRQSLAESLFAWACQSPLGKEDTLLLIGHLERVTVEANGSLDAVNLALLMALLYCFDISFIEQSTEERDDMIHQLPLLTEKQYIATIHSRLQ
DSQLWKLPGLQATVRLAWALALRGISQLPDVTALAEFTEADEAMAELAIADNVFLFLMESVVVSEYFYQEEFYIRRVHNLITDFLALMPMKVKQLRNRADEDARM
IHMSMQMGNEPPISLRRDLEHLMLLIGELYKKNPFHLELALEYWCPTEPLQTPTIMGSYLGVAHQRPPQRQVVLSKFVRQMGDLLPPTIYIPYLKMLQGLANGPQ
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Evidence summary TopClick 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 (0) | 1 (1) | 0 (0) | 0 (0) | 0 (2) | 0 (0) | 0 (0) | 0 (0) | 2 (3) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies TopLinkage Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Shao, 2002 | USA | microsatellite-based genomic screen |  | | autism | 52 | - | 52 | - | 112 | - | - |
Low Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS de novo Mutation Studies Top| Reference | Case Number | Family Number | de novo Number | Title |
|---|---|---|---|---|
| De Rubeis S, 2014 | 2270 | - | 1702 | Synaptic, transcriptional and chromatin genes disrupted in autism |
| Hashimoto R, 2016 | 30 | - | 38 | Whole-exome sequencing and neurite outgrowth analysis in autism spectrum disorder. |
NGS Mosaic SNV Studies TopNGS Other Studies Top Low Scale Gene Studies TopContact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.