Evidence Details for COL4A4
Basic Information Top
Gene Symbol: | COL4A4 ( CA44 ) |
---|---|
Gene Full Name: | collagen, type IV, alpha 4 |
Band: | 2q36.3 |
Quick Links | Entrez ID:1286; OMIM: 120131; Uniprot ID:CO4A4_HUMAN; ENSEMBL ID: ENSG00000081052; HGNC ID: 2206 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>COL4A4|1286|nucleotide
ATGTGGTCTCTGCACATAGTACTAATGAGGTGCTCCTTCAGATTGACCAAGTCCTTGGCCACAGGTCCCTGGTCACTTATACTCATTCTCTTTTCTGTACAATAT
GTATATGGGAGTGGAAAGAAATACATTGGTCCTTGTGGAGGAAGAGATTGCTCTGTTTGCCACTGTGTTCCTGAAAAGGGGTCTCGGGGTCCACCAGGACCACCA
GGGCCACAGGGTCCAATTGGACCCCTGGGAGCCCCAGGACCCATTGGGCTTTCAGGAGAGAAAGGAATGAGAGGGGACCGCGGCCCTCCTGGAGCAGCAGGGGAC
AAAGGAGATAAGGGTCCAACTGGTGTTCCTGGATTTCCAGGTTTAGATGGCATACCTGGGCACCCAGGGCCTCCTGGACCCAGAGGCAAACCTGGTATGAGTGGC
CACAATGGCTCAAGAGGTGACCCAGGGTTTCCAGGAGGAAGAGGAGCTCTTGGCCCAGGAGGCCCCCTAGGCCATCCTGGGGAAAAGGGAGAAAAAGGAAATTCA
GTGTTCATTTTAGGTGCCGTTAAAGGTATTCAGGGAGACAGAGGGGACCCAGGACTGCCTGGCTTACCAGGATCTTGGGGTGCAGGAGGACCGGCAGGTCCCACA
GGATATCCTGGAGAGCCAGGGTTAGTGGGACCTCCGGGCCAACCAGGGCGTCCAGGTTTGAAGGGAAATCCCGGTGTGGGAGTAAAGGGGCAAATGGGAGACCCG
GGTGAGGTTGGTCAGCAAGGTTCTCCTGGACCCACCCTGTTGGTAGAGCCACCTGACTTTTGTCTCTATAAAGGAGAAAAGGGTATAAAAGGAATTCCTGGAATG
GTTGGACTGCCAGGACCACCAGGACGCAAGGGAGAATCTGGTATTGGGGCAAAAGGAGAAAAAGGTATTCCTGGATTTCCAGGGCCTCGGGGGGATCCTGGTTCC
TATGGATCTCCAGGTTTTCCAGGATTAAAGGGAGAACTAGGACTGGTTGGAGATCCTGGGCTATTTGGATTAATTGGCCCAAAGGGGGATCCTGGAAATCGAGGG
CACCCAGGACCACCAGGTGTTTTGGTGACTCCACCTCTTCCACTCAAAGGCCCACCAGGGGACCCAGGGTTCCCTGGCCGCTATGGAGAAACAGGGGATGTTGGA
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ATGTGGTCTCTGCACATAGTACTAATGAGGTGCTCCTTCAGATTGACCAAGTCCTTGGCCACAGGTCCCTGGTCACTTATACTCATTCTCTTTTCTGTACAATAT
GTATATGGGAGTGGAAAGAAATACATTGGTCCTTGTGGAGGAAGAGATTGCTCTGTTTGCCACTGTGTTCCTGAAAAGGGGTCTCGGGGTCCACCAGGACCACCA
GGGCCACAGGGTCCAATTGGACCCCTGGGAGCCCCAGGACCCATTGGGCTTTCAGGAGAGAAAGGAATGAGAGGGGACCGCGGCCCTCCTGGAGCAGCAGGGGAC
AAAGGAGATAAGGGTCCAACTGGTGTTCCTGGATTTCCAGGTTTAGATGGCATACCTGGGCACCCAGGGCCTCCTGGACCCAGAGGCAAACCTGGTATGAGTGGC
CACAATGGCTCAAGAGGTGACCCAGGGTTTCCAGGAGGAAGAGGAGCTCTTGGCCCAGGAGGCCCCCTAGGCCATCCTGGGGAAAAGGGAGAAAAAGGAAATTCA
GTGTTCATTTTAGGTGCCGTTAAAGGTATTCAGGGAGACAGAGGGGACCCAGGACTGCCTGGCTTACCAGGATCTTGGGGTGCAGGAGGACCGGCAGGTCCCACA
GGATATCCTGGAGAGCCAGGGTTAGTGGGACCTCCGGGCCAACCAGGGCGTCCAGGTTTGAAGGGAAATCCCGGTGTGGGAGTAAAGGGGCAAATGGGAGACCCG
GGTGAGGTTGGTCAGCAAGGTTCTCCTGGACCCACCCTGTTGGTAGAGCCACCTGACTTTTGTCTCTATAAAGGAGAAAAGGGTATAAAAGGAATTCCTGGAATG
GTTGGACTGCCAGGACCACCAGGACGCAAGGGAGAATCTGGTATTGGGGCAAAAGGAGAAAAAGGTATTCCTGGATTTCCAGGGCCTCGGGGGGATCCTGGTTCC
TATGGATCTCCAGGTTTTCCAGGATTAAAGGGAGAACTAGGACTGGTTGGAGATCCTGGGCTATTTGGATTAATTGGCCCAAAGGGGGATCCTGGAAATCGAGGG
CACCCAGGACCACCAGGTGTTTTGGTGACTCCACCTCTTCCACTCAAAGGCCCACCAGGGGACCCAGGGTTCCCTGGCCGCTATGGAGAAACAGGGGATGTTGGA
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>COL4A4|1286|protein
MWSLHIVLMRCSFRLTKSLATGPWSLILILFSVQYVYGSGKKYIGPCGGRDCSVCHCVPEKGSRGPPGPPGPQGPIGPLGAPGPIGLSGEKGMRGDRGPPGAAGD
KGDKGPTGVPGFPGLDGIPGHPGPPGPRGKPGMSGHNGSRGDPGFPGGRGALGPGGPLGHPGEKGEKGNSVFILGAVKGIQGDRGDPGLPGLPGSWGAGGPAGPT
GYPGEPGLVGPPGQPGRPGLKGNPGVGVKGQMGDPGEVGQQGSPGPTLLVEPPDFCLYKGEKGIKGIPGMVGLPGPPGRKGESGIGAKGEKGIPGFPGPRGDPGS
YGSPGFPGLKGELGLVGDPGLFGLIGPKGDPGNRGHPGPPGVLVTPPLPLKGPPGDPGFPGRYGETGDVGPPGPPGLLGRPGEACAGMIGPPGPQGFPGLPGLPG
EAGIPGRPDSAPGKPGKPGSPGLPGAPGLQGLPGSSVIYCSVGNPGPQGIKGKVGPPGGRGPKGEKGNEGLCACEPGPMGPPGPPGLPGRQGSKGDLGLPGWLGT
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MWSLHIVLMRCSFRLTKSLATGPWSLILILFSVQYVYGSGKKYIGPCGGRDCSVCHCVPEKGSRGPPGPPGPQGPIGPLGAPGPIGLSGEKGMRGDRGPPGAAGD
KGDKGPTGVPGFPGLDGIPGHPGPPGPRGKPGMSGHNGSRGDPGFPGGRGALGPGGPLGHPGEKGEKGNSVFILGAVKGIQGDRGDPGLPGLPGSWGAGGPAGPT
GYPGEPGLVGPPGQPGRPGLKGNPGVGVKGQMGDPGEVGQQGSPGPTLLVEPPDFCLYKGEKGIKGIPGMVGLPGPPGRKGESGIGAKGEKGIPGFPGPRGDPGS
YGSPGFPGLKGELGLVGDPGLFGLIGPKGDPGNRGHPGPPGVLVTPPLPLKGPPGDPGFPGRYGETGDVGPPGPPGLLGRPGEACAGMIGPPGPQGFPGLPGLPG
EAGIPGRPDSAPGKPGKPGSPGLPGAPGLQGLPGSSVIYCSVGNPGPQGIKGKVGPPGGRGPKGEKGNEGLCACEPGPMGPPGPPGLPGRQGSKGDLGLPGWLGT
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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 (0) | 1 (1) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (1) | 0 (0) | 2 (3) |
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
Ma, 2007 | USA | SNP-based genomic screen | autism | 26 | - | 26 | - | - | - | - |
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference | Case Number | Family Number | de novo Number | Title |
---|---|---|---|---|
Iossifov I, 2014 | 2508 | - | 1194 | The contribution of de novo coding mutations to autism spectrum disorder. |
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Reference | Source | Platform | ADI-R | ADOS | Diagnosis | Family | Affected | Validation Method | ||
---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | ||||||||
Cukier HN, 2014 | - | Illumina HiSeq 2000 | ASD | 40 | - | - | 100 | HumanExome BeadChip or Sanger sequencing |
Low Scale Gene Studies Top
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