Evidence Details for CSMD2
Basic Information Top
Gene Symbol: | CSMD2 ( KIAA1884,dJ1007G16.1,dJ1007G16.2,dJ947L8.1 ) |
---|---|
Gene Full Name: | CUB and Sushi multiple domains 2 |
Band: | 1p35.1 |
Quick Links | Entrez ID:114784; OMIM: 608398; Uniprot ID:CSMD2_HUMAN; ENSEMBL ID: ENSG00000121904; HGNC ID: 19290 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>CSMD2|114784|nucleotide
ATGAGGCTCATAAGCATCGCCCCCGGCCCTAGATGGCAAGTTCAAAGCCACCACCCAAGATCAGCTGGCCAGAACTGCACGTTCCAACTGCACGGTCCCAATGGG
ACAGTTGAGAGCCCAGGGTTCCCATATGGCTACCCCAATTACGCCAACTGCACGTGGACCATCACCGCGGAAGAGCAGCACAGAATCCAGCTTGTGTTCCAGTCC
TTTGCCCTGGAAGAGGACTTTGATGTCCTGTCGGTGTTTGATGGTCCACCCCAGCCAGAGAATCTGCGTACGAGGCTCACAGGCTTTCAGCTGCCAGCCACCATT
GTTAGTGCAGCCACCACCCTCTCTCTGCGCCTCATCAGCGACTATGCAGTCAGTGCCCAAGGCTTCCACGCCACCTATGAAGTTCTCCCCAGCCACACATGTGGG
AACCCAGGGAGGCTGCCCAATGGCATCCAGCAGGGTTCAACCTTCAACCTCGGTGACAAGGTCCGCTACAGCTGCAACCTTGGCTTCTTCCTGGAGGGCCACGCC
GTGCTCACCTGCCACGCTGGCTCTGAGAACAGCGCCACGTGGGACTTCCCCCTGCCTTCCTGCAGAGCTGATGATGCCTGTGGTGGGACCCTGCGGGGCCAGAGT
GGCATCATCTCCAGCCCCCACTTCCCCTCGGAGTACCATAACAATGCCGACTGCACATGGACCATCCTGGCTGAGCTGGGGGACACCATCGCCCTGGTGTTTATT
GACTTCCAGCTGGAGGATGGTTACGACTTTCTGGAAGTCACTGGGACAGAAGGCTCCTCCCTCTGGTTCACCGGAGCCAGCCTCCCAGCCCCCGTTATCAGCAGC
AAGAACTGGCTGCGACTGCACTTCACATCGGATGGCAACCACCGGCAGCGCGGATTCAGTGCCCAATACCAAGTCAAGAAGCAAATTGAGTTGAAGTCTCGAGGT
GTGAAGCTGATGCCCAGCAAAGACAACAGCCAGAAGACGTCTGTGTTAACTCAGGTTGGTGTGTCCCAAGGACATAATATGTGTCCAGACCCTGGCATACCCGAA
AGGGGCAAAAGACTAGGCTCGGATTTCAGGTTAGGATCCAGCGTCCAGTTCACCTGCAACGAGGGCTATGACCTGCAAGGGTCCAAGCGGATCACCTGTATGAAA
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ATGAGGCTCATAAGCATCGCCCCCGGCCCTAGATGGCAAGTTCAAAGCCACCACCCAAGATCAGCTGGCCAGAACTGCACGTTCCAACTGCACGGTCCCAATGGG
ACAGTTGAGAGCCCAGGGTTCCCATATGGCTACCCCAATTACGCCAACTGCACGTGGACCATCACCGCGGAAGAGCAGCACAGAATCCAGCTTGTGTTCCAGTCC
TTTGCCCTGGAAGAGGACTTTGATGTCCTGTCGGTGTTTGATGGTCCACCCCAGCCAGAGAATCTGCGTACGAGGCTCACAGGCTTTCAGCTGCCAGCCACCATT
GTTAGTGCAGCCACCACCCTCTCTCTGCGCCTCATCAGCGACTATGCAGTCAGTGCCCAAGGCTTCCACGCCACCTATGAAGTTCTCCCCAGCCACACATGTGGG
AACCCAGGGAGGCTGCCCAATGGCATCCAGCAGGGTTCAACCTTCAACCTCGGTGACAAGGTCCGCTACAGCTGCAACCTTGGCTTCTTCCTGGAGGGCCACGCC
GTGCTCACCTGCCACGCTGGCTCTGAGAACAGCGCCACGTGGGACTTCCCCCTGCCTTCCTGCAGAGCTGATGATGCCTGTGGTGGGACCCTGCGGGGCCAGAGT
GGCATCATCTCCAGCCCCCACTTCCCCTCGGAGTACCATAACAATGCCGACTGCACATGGACCATCCTGGCTGAGCTGGGGGACACCATCGCCCTGGTGTTTATT
GACTTCCAGCTGGAGGATGGTTACGACTTTCTGGAAGTCACTGGGACAGAAGGCTCCTCCCTCTGGTTCACCGGAGCCAGCCTCCCAGCCCCCGTTATCAGCAGC
AAGAACTGGCTGCGACTGCACTTCACATCGGATGGCAACCACCGGCAGCGCGGATTCAGTGCCCAATACCAAGTCAAGAAGCAAATTGAGTTGAAGTCTCGAGGT
GTGAAGCTGATGCCCAGCAAAGACAACAGCCAGAAGACGTCTGTGTTAACTCAGGTTGGTGTGTCCCAAGGACATAATATGTGTCCAGACCCTGGCATACCCGAA
AGGGGCAAAAGACTAGGCTCGGATTTCAGGTTAGGATCCAGCGTCCAGTTCACCTGCAACGAGGGCTATGACCTGCAAGGGTCCAAGCGGATCACCTGTATGAAA
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>CSMD2|114784|protein
MRLISIAPGPRWQVQSHHPRSAGQNCTFQLHGPNGTVESPGFPYGYPNYANCTWTITAEEQHRIQLVFQSFALEEDFDVLSVFDGPPQPENLRTRLTGFQLPATI
VSAATTLSLRLISDYAVSAQGFHATYEVLPSHTCGNPGRLPNGIQQGSTFNLGDKVRYSCNLGFFLEGHAVLTCHAGSENSATWDFPLPSCRADDACGGTLRGQS
GIISSPHFPSEYHNNADCTWTILAELGDTIALVFIDFQLEDGYDFLEVTGTEGSSLWFTGASLPAPVISSKNWLRLHFTSDGNHRQRGFSAQYQVKKQIELKSRG
VKLMPSKDNSQKTSVLTQVGVSQGHNMCPDPGIPERGKRLGSDFRLGSSVQFTCNEGYDLQGSKRITCMKVSDMFAAWSDHRPVCRARMCDAHLRGPSGIITSPN
FPIQYDNNAHCVWIITALNPSKVIKLAFEEFDLERGYDTLTVGDGGQDGDQKTVLYILTGTSVPDLIVSTNHQMWLLFQTDGSGSSLGFKASYEEIEQGSCGDPG
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MRLISIAPGPRWQVQSHHPRSAGQNCTFQLHGPNGTVESPGFPYGYPNYANCTWTITAEEQHRIQLVFQSFALEEDFDVLSVFDGPPQPENLRTRLTGFQLPATI
VSAATTLSLRLISDYAVSAQGFHATYEVLPSHTCGNPGRLPNGIQQGSTFNLGDKVRYSCNLGFFLEGHAVLTCHAGSENSATWDFPLPSCRADDACGGTLRGQS
GIISSPHFPSEYHNNADCTWTILAELGDTIALVFIDFQLEDGYDFLEVTGTEGSSLWFTGASLPAPVISSKNWLRLHFTSDGNHRQRGFSAQYQVKKQIELKSRG
VKLMPSKDNSQKTSVLTQVGVSQGHNMCPDPGIPERGKRLGSDFRLGSSVQFTCNEGYDLQGSKRITCMKVSDMFAAWSDHRPVCRARMCDAHLRGPSGIITSPN
FPIQYDNNAHCVWIITALNPSKVIKLAFEEFDLERGYDTLTVGDGGQDGDQKTVLYILTGTSVPDLIVSTNHQMWLLFQTDGSGSSLGFKASYEEIEQGSCGDPG
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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) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 1 (3) |
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 | ||||||
Levy, 2011 | Simons Simplex Collection | aCGH | - | - | ASD | 915 | 915 | - | - | - | - | - |
Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
Microarray Studies: 1
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%) |
1.09635 | Up | 11.6801 | |||
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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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