Evidence Details for ITGB5
Basic Information Top
| Gene Symbol: | ITGB5 ( FLJ26658 ) |
|---|---|
| Gene Full Name: | integrin, beta 5 |
| Band: | 3q21.2 |
| Quick Links | Entrez ID:3693; OMIM: 147561; Uniprot ID:ITB5_HUMAN; ENSEMBL ID: ENSG00000082781; HGNC ID: 6160 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>ITGB5|3693|nucleotide
ATGCCGCGGGCCCCGGCGCCGCTGTACGCCTGCCTCCTGGGGCTCTGCGCGCTCCTGCCCCGGCTCGCAGGTCTCAACATATGCACTAGTGGAAGTGCCACCTCA
TGTGAAGAATGTCTGCTAATCCACCCAAAATGTGCCTGGTGCTCCAAAGAGGACTTCGGAAGCCCACGGTCCATCACCTCTCGGTGTGATCTGAGGGCAAACCTT
GTCAAAAATGGCTGTGGAGGTGAGATAGAGAGCCCAGCCAGCAGCTTCCATGTCCTGAGGAGCCTGCCCCTCAGCAGCAAGGGTTCGGGCTCTGCAGGCTGGGAC
GTCATTCAGATGACACCACAGGAGATTGCCGTGAACCTCCGGCCCGGTGACAAGACCACCTTCCAGCTACAGGTTCGCCAGGTGGAGGACTATCCTGTGGACCTG
TACTACCTGATGGACCTCTCCCTGTCCATGAAGGATGACTTGGACAATATCCGGAGCCTGGGCACCAAACTCGCGGAGGAGATGAGGAAGCTCACCAGCAACTTC
CGGTTGGGATTTGGGTCTTTTGTTGATAAGGACATCTCTCCTTTCTCCTACACGGCACCGAGGTACCAGACCAATCCGTGCATTGGTTACAAGTTGTTTCCAAAT
TGCGTCCCCTCCTTTGGGTTCCGCCATCTGCTGCCTCTCACAGACAGAGTGGACAGCTTCAATGAGGAAGTTCGGAAACAGAGGGTGTCCCGGAACCGAGATGCC
CCTGAGGGGGGCTTTGATGCAGTACTCCAGGCAGCCGTCTGCAAGGAGAAGATTGGCTGGCGAAAGGATGCACTGCATTTGCTGGTGTTCACAACAGATGATGTG
CCCCACATCGCATTGGATGGAAAATTGGGAGGCCTGGTGCAGCCACACGATGGCCAGTGCCACCTGAACGAGGCCAACGAGTACACTGCATCCAACCAGATGGAC
TATCCATCCCTTGCCTTGCTTGGAGAGAAATTGGCAGAGAACAACATCAACCTCATCTTTGCAGTGACAAAAAACCATTATATGCTGTACAAGAATTTTACAGCC
CTGATACCTGGAACAACGGTGGAGATTTTAGATGGAGACTCCAAAAATATTATTCAACTGATTATTAATGCATACAATAGTATCCGGTCTAAAGTGGAGTTGTCA
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ATGCCGCGGGCCCCGGCGCCGCTGTACGCCTGCCTCCTGGGGCTCTGCGCGCTCCTGCCCCGGCTCGCAGGTCTCAACATATGCACTAGTGGAAGTGCCACCTCA
TGTGAAGAATGTCTGCTAATCCACCCAAAATGTGCCTGGTGCTCCAAAGAGGACTTCGGAAGCCCACGGTCCATCACCTCTCGGTGTGATCTGAGGGCAAACCTT
GTCAAAAATGGCTGTGGAGGTGAGATAGAGAGCCCAGCCAGCAGCTTCCATGTCCTGAGGAGCCTGCCCCTCAGCAGCAAGGGTTCGGGCTCTGCAGGCTGGGAC
GTCATTCAGATGACACCACAGGAGATTGCCGTGAACCTCCGGCCCGGTGACAAGACCACCTTCCAGCTACAGGTTCGCCAGGTGGAGGACTATCCTGTGGACCTG
TACTACCTGATGGACCTCTCCCTGTCCATGAAGGATGACTTGGACAATATCCGGAGCCTGGGCACCAAACTCGCGGAGGAGATGAGGAAGCTCACCAGCAACTTC
CGGTTGGGATTTGGGTCTTTTGTTGATAAGGACATCTCTCCTTTCTCCTACACGGCACCGAGGTACCAGACCAATCCGTGCATTGGTTACAAGTTGTTTCCAAAT
TGCGTCCCCTCCTTTGGGTTCCGCCATCTGCTGCCTCTCACAGACAGAGTGGACAGCTTCAATGAGGAAGTTCGGAAACAGAGGGTGTCCCGGAACCGAGATGCC
CCTGAGGGGGGCTTTGATGCAGTACTCCAGGCAGCCGTCTGCAAGGAGAAGATTGGCTGGCGAAAGGATGCACTGCATTTGCTGGTGTTCACAACAGATGATGTG
CCCCACATCGCATTGGATGGAAAATTGGGAGGCCTGGTGCAGCCACACGATGGCCAGTGCCACCTGAACGAGGCCAACGAGTACACTGCATCCAACCAGATGGAC
TATCCATCCCTTGCCTTGCTTGGAGAGAAATTGGCAGAGAACAACATCAACCTCATCTTTGCAGTGACAAAAAACCATTATATGCTGTACAAGAATTTTACAGCC
CTGATACCTGGAACAACGGTGGAGATTTTAGATGGAGACTCCAAAAATATTATTCAACTGATTATTAATGCATACAATAGTATCCGGTCTAAAGTGGAGTTGTCA
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>ITGB5|3693|protein
MPRAPAPLYACLLGLCALLPRLAGLNICTSGSATSCEECLLIHPKCAWCSKEDFGSPRSITSRCDLRANLVKNGCGGEIESPASSFHVLRSLPLSSKGSGSAGWD
VIQMTPQEIAVNLRPGDKTTFQLQVRQVEDYPVDLYYLMDLSLSMKDDLDNIRSLGTKLAEEMRKLTSNFRLGFGSFVDKDISPFSYTAPRYQTNPCIGYKLFPN
CVPSFGFRHLLPLTDRVDSFNEEVRKQRVSRNRDAPEGGFDAVLQAAVCKEKIGWRKDALHLLVFTTDDVPHIALDGKLGGLVQPHDGQCHLNEANEYTASNQMD
YPSLALLGEKLAENNINLIFAVTKNHYMLYKNFTALIPGTTVEILDGDSKNIIQLIINAYNSIRSKVELSVWDQPEDLNLFFTATCQDGVSYPGQRKCEGLKIGD
TASFEVSLEARSCPSRHTEHVFALRPVGFRDSLEVGVTYNCTCGCSVGLEPNSARCNGSGTYVCGLCECSPGYLGTRCECQDGENQSVYQNLCREAEGKPLCSGR
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MPRAPAPLYACLLGLCALLPRLAGLNICTSGSATSCEECLLIHPKCAWCSKEDFGSPRSITSRCDLRANLVKNGCGGEIESPASSFHVLRSLPLSSKGSGSAGWD
VIQMTPQEIAVNLRPGDKTTFQLQVRQVEDYPVDLYYLMDLSLSMKDDLDNIRSLGTKLAEEMRKLTSNFRLGFGSFVDKDISPFSYTAPRYQTNPCIGYKLFPN
CVPSFGFRHLLPLTDRVDSFNEEVRKQRVSRNRDAPEGGFDAVLQAAVCKEKIGWRKDALHLLVFTTDDVPHIALDGKLGGLVQPHDGQCHLNEANEYTASNQMD
YPSLALLGEKLAENNINLIFAVTKNHYMLYKNFTALIPGTTVEILDGDSKNIIQLIINAYNSIRSKVELSVWDQPEDLNLFFTATCQDGVSYPGQRKCEGLKIGD
TASFEVSLEARSCPSRHTEHVFALRPVGFRDSLEVGVTYNCTCGCSVGLEPNSARCNGSGTYVCGLCECSPGYLGTRCECQDGENQSVYQNLCREAEGKPLCSGR
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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 (1) | 0 (0) | 0 (0) | 2 (2) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 2 (4) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
Linkage Studies TopLow Scale Association Studies (by Ethnic Group) TopLarge 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%) |
1.32022 | Up | 0.305455 | |
| ||||||||||||
| Voineagu, 2011_2 | Unknown | frontal, BA44/45 | 10 (0.00%) | | | - | autism | 6 (0.00%) |
1.57142 | Up | 0.0106667 | |
| ||||||||||||
Proteomics Studies:0
| Reference | Source | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
|---|---|---|---|---|---|---|---|---|---|
| No Evidence. | |||||||||
NGS de novo Mutation Studies Top| Reference | Case Number | Family Number | de novo Number | Title |
|---|---|---|---|---|
| C Yuen RK, 2017 | 1625 | - | 237 | Whole genome sequencing resource identifies 18 new candidate genes for 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.