Evidence Details for PDLIM5
Basic Information Top
| Gene Symbol: | PDLIM5 ( ENH,ENH1,LIM ) |
|---|---|
| Gene Full Name: | PDZ and LIM domain 5 |
| Band: | 4q22.3 |
| Quick Links | Entrez ID:10611; OMIM: 605904; Uniprot ID:PDLI5_HUMAN; ENSEMBL ID: ENSG00000163110; HGNC ID: 17468 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>PDLIM5|10611|nucleotide
ATGAGCAACTACAGTGTGTCACTGGTTGGCCCAGCTCCTTGGGGTTTCCGGCTGCAGGGCGGTAAGGATTTCAACATGCCTCTGACAATCTCTAGTCTAAAAGAT
GGCGGCAAGGCAGCCCAGGCAAATGTAAGAATAGGCGATGTGGTTCTCAGCATTGATGGAATAAATGCACAAGGAATGACTCATCTTGAAGCCCAGAATAAGATT
AAGGGTTGTACAGGCTCTTTGAATATGACTCTGCAAAGAGCATCTGCTGCACCCAAGCCTGAGCCGGTTCCTGTTCAAAAGCCCACAGTCACCAGCGTGTGTTCC
GAGACTTCTCAGGAGCTAGCAGAGGGACAGAGAAGAGGATCCCAGGGTGACAGTAAACAGCAAAATGGCCCACCAAGAAAACACATTGTGGAGCGCTATACAGAG
TTTTATCATGTACCCACTCACAGTGATGCCAGCAAGAAGAGACTGATTGAGGATACTGAAGACTGGCGTCCAAGGACTGGAACAACTCAGTCTCGCTCTTTCCGA
ATCCTTGCCCAGATCACTGGGACTGAACATTTGAAAGAATCTGAAGCCGATAATACAAAGAAGGCAAATAACTCTCAGGAGCCTTCTCCGCAGTTGGCTTCCTCG
GTAGCTTCCACACGGAGCATGCCCGAGAGCCTGGACAGCCCAACCTCTGGCAGACCAGGGGTTACCAGCCTCACAGCTGCAGCTGCCTTCAAGCCTGTAGGATCC
ACTGGCGTCATCAAGTCACCAAGCTGGCAACGGCCAAACCAAGGAGTACCTTCCACTGGAAGAATCTCAAACAGCGCTACTTACTCAGGATCAGTGGCACCAGCC
AACTCAGCTTTGGGACAAACCCAGCCAAGTGACCAGGACACTTTAGTGCAAAGAGCTGAGCACATTCCAGCAGGGAAACGAACTCCGATGTGCGCCCATTGTAAC
CAGGTCATCAGAGGACCATTCTTAGTGGCACTGGGGAAATCTTGGCACCCAGAAGAATTCAACTGCGCTCACTGCAAAAATACAATGGCCTACATTGGATTTGTA
GAGGAGAAAGGAGCCCTGTATTGTGAGCTGTGCTATGAGAAATTCTTTGCCCCTGAATGTGGTCGATGCCAAAGGAAGATCCTTGGAGAAGTCATCAGTGCGTTG
Show »
ATGAGCAACTACAGTGTGTCACTGGTTGGCCCAGCTCCTTGGGGTTTCCGGCTGCAGGGCGGTAAGGATTTCAACATGCCTCTGACAATCTCTAGTCTAAAAGAT
GGCGGCAAGGCAGCCCAGGCAAATGTAAGAATAGGCGATGTGGTTCTCAGCATTGATGGAATAAATGCACAAGGAATGACTCATCTTGAAGCCCAGAATAAGATT
AAGGGTTGTACAGGCTCTTTGAATATGACTCTGCAAAGAGCATCTGCTGCACCCAAGCCTGAGCCGGTTCCTGTTCAAAAGCCCACAGTCACCAGCGTGTGTTCC
GAGACTTCTCAGGAGCTAGCAGAGGGACAGAGAAGAGGATCCCAGGGTGACAGTAAACAGCAAAATGGCCCACCAAGAAAACACATTGTGGAGCGCTATACAGAG
TTTTATCATGTACCCACTCACAGTGATGCCAGCAAGAAGAGACTGATTGAGGATACTGAAGACTGGCGTCCAAGGACTGGAACAACTCAGTCTCGCTCTTTCCGA
ATCCTTGCCCAGATCACTGGGACTGAACATTTGAAAGAATCTGAAGCCGATAATACAAAGAAGGCAAATAACTCTCAGGAGCCTTCTCCGCAGTTGGCTTCCTCG
GTAGCTTCCACACGGAGCATGCCCGAGAGCCTGGACAGCCCAACCTCTGGCAGACCAGGGGTTACCAGCCTCACAGCTGCAGCTGCCTTCAAGCCTGTAGGATCC
ACTGGCGTCATCAAGTCACCAAGCTGGCAACGGCCAAACCAAGGAGTACCTTCCACTGGAAGAATCTCAAACAGCGCTACTTACTCAGGATCAGTGGCACCAGCC
AACTCAGCTTTGGGACAAACCCAGCCAAGTGACCAGGACACTTTAGTGCAAAGAGCTGAGCACATTCCAGCAGGGAAACGAACTCCGATGTGCGCCCATTGTAAC
CAGGTCATCAGAGGACCATTCTTAGTGGCACTGGGGAAATCTTGGCACCCAGAAGAATTCAACTGCGCTCACTGCAAAAATACAATGGCCTACATTGGATTTGTA
GAGGAGAAAGGAGCCCTGTATTGTGAGCTGTGCTATGAGAAATTCTTTGCCCCTGAATGTGGTCGATGCCAAAGGAAGATCCTTGGAGAAGTCATCAGTGCGTTG
Show »
>PDLIM5|10611|protein
MSNYSVSLVGPAPWGFRLQGGKDFNMPLTISSLKDGGKAAQANVRIGDVVLSIDGINAQGMTHLEAQNKIKGCTGSLNMTLQRASAAPKPEPVPVQKPTVTSVCS
ETSQELAEGQRRGSQGDSKQQNGPPRKHIVERYTEFYHVPTHSDASKKRLIEDTEDWRPRTGTTQSRSFRILAQITGTEHLKESEADNTKKANNSQEPSPQLASS
VASTRSMPESLDSPTSGRPGVTSLTAAAAFKPVGSTGVIKSPSWQRPNQGVPSTGRISNSATYSGSVAPANSALGQTQPSDQDTLVQRAEHIPAGKRTPMCAHCN
QVIRGPFLVALGKSWHPEEFNCAHCKNTMAYIGFVEEKGALYCELCYEKFFAPECGRCQRKILGEVISALKQTWHVSCFVCVACGKPIRNNVFHLEDGEPYCETD
YYALFGTICHGCEFPIEAGDMFLEALGYTWHDTCFVCSVCCESLEGQTFFSKKDKPLCKKHAHSVNF
Show »
MSNYSVSLVGPAPWGFRLQGGKDFNMPLTISSLKDGGKAAQANVRIGDVVLSIDGINAQGMTHLEAQNKIKGCTGSLNMTLQRASAAPKPEPVPVQKPTVTSVCS
ETSQELAEGQRRGSQGDSKQQNGPPRKHIVERYTEFYHVPTHSDASKKRLIEDTEDWRPRTGTTQSRSFRILAQITGTEHLKESEADNTKKANNSQEPSPQLASS
VASTRSMPESLDSPTSGRPGVTSLTAAAAFKPVGSTGVIKSPSWQRPNQGVPSTGRISNSATYSGSVAPANSALGQTQPSDQDTLVQRAEHIPAGKRTPMCAHCN
QVIRGPFLVALGKSWHPEEFNCAHCKNTMAYIGFVEEKGALYCELCYEKFFAPECGRCQRKILGEVISALKQTWHVSCFVCVACGKPIRNNVFHLEDGEPYCETD
YYALFGTICHGCEFPIEAGDMFLEALGYTWHDTCFVCSVCCESLEGQTFFSKKDKPLCKKHAHSVNF
Show »
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 (2) | 1 (1) | 0 (0) | 2 (2) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 4 (6) |
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 | ||||||
| Jacquemont, 2006 | France | aCGH |  | | ASD | - | - | - | - | 29 | - | 29 |
| Gai, 2011 | AGRE | SNP microarray | - | - | autism | - | - | - | - | 1224 | 3801 | 5025 |
Linkage Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Yonan, 2003 | USA | microsatellite-based genomic screen |  | | PDD | 345 | - | 345 | - | - | - | - |
Low 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 | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Purcell, 2001_2 | America | cerebellum | 9 (-) | | | - | autism | 4 (-) |
-1.35 | Down | - | |
| ||||||||||||
| Hu, 2009_1 | mixed | lymphoblastoid cell lines | 21 (-) | | | autism with nonaffected sib pairs | autism | 17 (-) |
0.9 | Down | - | |
| ||||||||||||
Proteomics Studies:0
| Reference | Source | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
|---|---|---|---|---|---|---|---|---|---|
| No Evidence. | |||||||||
NGS de novo Mutation Studies TopNGS 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.