Evidence Details for RUSC2
Basic Information Top
| Gene Symbol: | RUSC2 ( Iporin,KIAA0375 ) |
|---|---|
| Gene Full Name: | RUN and SH3 domain containing 2 |
| Band: | 9p13.3 |
| Quick Links | Entrez ID:9853; OMIM: 611053; Uniprot ID:RUSC2_HUMAN; ENSEMBL ID: ENSG00000198853; HGNC ID: 23625 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>RUSC2|9853|nucleotide
ATGGATAGTCCCCCAAAGCTGACTGGAGAGACCCTCATCGTTCATCACATCCCCCTGGTGCACTGCCAAGTCCCAGACAGGCAGTGCTGTGGAGGGGCAGGTGGA
GGTGGTGGGAGCACAAGACCTAATCCCTTCTGCCCACCTGAGCTGGGCATCACCCAGCCCGATCAAGACCTAGGACAAGCTGACTCCCTGCTATTCAGCAGCCTG
CACTCTGCTCCAGGAGGAACTGCACGGTCTATAGACAGCACCAAGAGTAGGAGTCGGGATGGAAGAGGCCCTGGAGCCCCCAAACGACACAACCCCTTCTTGCTG
CAGGAGGGTGTGGGTGAGCCAGGACTTGGTGACCTGTATGATGACAGCATTGGTGACAGTGCCACCCAGCAGTCCTTCCACCTGCATGGCACTGGCCAGCCCAAC
TTTCATCTATCCTCTTTCCAGCTGCCACCATCTGGCCCCAGAGTGGGCAGGCCATGGGGGACAACACGCAGTCGGGCTGGAGTGGTGGAAGGGCAGGAACAGGAG
CCAGTGATGACCTTGGATACTCAGCAGTGCGGCACCAGCCACTGCTGCCGGCCAGAGCTGGAAGCAGAGACTATGGAGCTGGATGAGTGTGGGGGACCTGGTGGG
AGTGGCAGTGGGGGTGGAGCCAGCGATACCTCTGGCTTTTCCTTTGACCAGGAATGGAAGCTCAGTTCAGATGAATCCCCAAGGAACCCTGGATGCTCCGGCTCA
GGGGACCAGCACTGCCGCTGCAGTAGCACATCCAGTCAGTCCGAGGCAGCTGACCAGTCCATGGGCTATGTGAGCGACTCCTCCTGCAACAGTTCAGATGGTGTG
CTGGTCACCTTCAGCACCCTCTACAACAAGATGCATGGCACCCCCCGTGCCAATCTCAACTCTGCCCCACAGTCCTGCAGCGACTCTTCCTTCTGCAGCCACTCA
GACCCTGGCGCCTTCTATCTGGATCTGCAGCCCTCCCCATTTGAGTCTAAGATGTCTTATGAGTCCCATCACCCTGAAAGTGGAGGAAGGGAAGGGGGCTATGGT
TGCCCTCATGCCTCTTCTCCTGAGCTTGATGCCAACTGCAACTCCTACCGCCCACACTGTGAGCCGTGCCCAGCAGTGGCTGACCTCACAGCCTGCTTCCAAAGC
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ATGGATAGTCCCCCAAAGCTGACTGGAGAGACCCTCATCGTTCATCACATCCCCCTGGTGCACTGCCAAGTCCCAGACAGGCAGTGCTGTGGAGGGGCAGGTGGA
GGTGGTGGGAGCACAAGACCTAATCCCTTCTGCCCACCTGAGCTGGGCATCACCCAGCCCGATCAAGACCTAGGACAAGCTGACTCCCTGCTATTCAGCAGCCTG
CACTCTGCTCCAGGAGGAACTGCACGGTCTATAGACAGCACCAAGAGTAGGAGTCGGGATGGAAGAGGCCCTGGAGCCCCCAAACGACACAACCCCTTCTTGCTG
CAGGAGGGTGTGGGTGAGCCAGGACTTGGTGACCTGTATGATGACAGCATTGGTGACAGTGCCACCCAGCAGTCCTTCCACCTGCATGGCACTGGCCAGCCCAAC
TTTCATCTATCCTCTTTCCAGCTGCCACCATCTGGCCCCAGAGTGGGCAGGCCATGGGGGACAACACGCAGTCGGGCTGGAGTGGTGGAAGGGCAGGAACAGGAG
CCAGTGATGACCTTGGATACTCAGCAGTGCGGCACCAGCCACTGCTGCCGGCCAGAGCTGGAAGCAGAGACTATGGAGCTGGATGAGTGTGGGGGACCTGGTGGG
AGTGGCAGTGGGGGTGGAGCCAGCGATACCTCTGGCTTTTCCTTTGACCAGGAATGGAAGCTCAGTTCAGATGAATCCCCAAGGAACCCTGGATGCTCCGGCTCA
GGGGACCAGCACTGCCGCTGCAGTAGCACATCCAGTCAGTCCGAGGCAGCTGACCAGTCCATGGGCTATGTGAGCGACTCCTCCTGCAACAGTTCAGATGGTGTG
CTGGTCACCTTCAGCACCCTCTACAACAAGATGCATGGCACCCCCCGTGCCAATCTCAACTCTGCCCCACAGTCCTGCAGCGACTCTTCCTTCTGCAGCCACTCA
GACCCTGGCGCCTTCTATCTGGATCTGCAGCCCTCCCCATTTGAGTCTAAGATGTCTTATGAGTCCCATCACCCTGAAAGTGGAGGAAGGGAAGGGGGCTATGGT
TGCCCTCATGCCTCTTCTCCTGAGCTTGATGCCAACTGCAACTCCTACCGCCCACACTGTGAGCCGTGCCCAGCAGTGGCTGACCTCACAGCCTGCTTCCAAAGC
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>RUSC2|9853|protein
MDSPPKLTGETLIVHHIPLVHCQVPDRQCCGGAGGGGGSTRPNPFCPPELGITQPDQDLGQADSLLFSSLHSAPGGTARSIDSTKSRSRDGRGPGAPKRHNPFLL
QEGVGEPGLGDLYDDSIGDSATQQSFHLHGTGQPNFHLSSFQLPPSGPRVGRPWGTTRSRAGVVEGQEQEPVMTLDTQQCGTSHCCRPELEAETMELDECGGPGG
SGSGGGASDTSGFSFDQEWKLSSDESPRNPGCSGSGDQHCRCSSTSSQSEAADQSMGYVSDSSCNSSDGVLVTFSTLYNKMHGTPRANLNSAPQSCSDSSFCSHS
DPGAFYLDLQPSPFESKMSYESHHPESGGREGGYGCPHASSPELDANCNSYRPHCEPCPAVADLTACFQSQARLVVATQNYYKLVTCDLSSQSSPSPAGSSITSC
SEEHTKISPPPGPGPDPGPSQPSEYYLFQKPEVQPEEQEAVSSSTQAAAAVGPTVLEGQVYTNTSPPNLSTGRQRSRSYDRSLQRSPPVRLGSLERMLSCPVRLS
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MDSPPKLTGETLIVHHIPLVHCQVPDRQCCGGAGGGGGSTRPNPFCPPELGITQPDQDLGQADSLLFSSLHSAPGGTARSIDSTKSRSRDGRGPGAPKRHNPFLL
QEGVGEPGLGDLYDDSIGDSATQQSFHLHGTGQPNFHLSSFQLPPSGPRVGRPWGTTRSRAGVVEGQEQEPVMTLDTQQCGTSHCCRPELEAETMELDECGGPGG
SGSGGGASDTSGFSFDQEWKLSSDESPRNPGCSGSGDQHCRCSSTSSQSEAADQSMGYVSDSSCNSSDGVLVTFSTLYNKMHGTPRANLNSAPQSCSDSSFCSHS
DPGAFYLDLQPSPFESKMSYESHHPESGGREGGYGCPHASSPELDANCNSYRPHCEPCPAVADLTACFQSQARLVVATQNYYKLVTCDLSSQSSPSPAGSSITSC
SEEHTKISPPPGPGPDPGPSQPSEYYLFQKPEVQPEEQEAVSSSTQAAAAVGPTVLEGQVYTNTSPPNLSTGRQRSRSYDRSLQRSPPVRLGSLERMLSCPVRLS
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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 (1) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 12 (3) |
Syndromic Autism Gene TopGenome-Wide Association Studies (By Ethnic Group) Top Family Based Association Studies: 1
| Reference | Stage | Platform | #Families | Affecteds | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
||||||
| CAUCASIAN | |||||||||||
| Hussman, 2011_1 | Discovery | Illumina Infinium Human 1 M beadship | 597 | - (-) |  |  | ASD | - - |
- - | ||
Case Control Based Association Studies: 0
| Reference | Stage | Platform | ASD Cases | Normal Controls | Result | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
| No Evidence. | ||||||||||||
CNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Zwaag, 2009 | - | SNP microarray | | | autism | - | - | - | - | 105 | 267 | 372 |
Linkage Studies TopLow 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 |
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.