Evidence Details for KLHDC10
Basic Information Top
| Gene Symbol: | KLHDC10 ( KIAA0265,slim ) |
|---|---|
| Gene Full Name: | kelch domain containing 10 |
| Band: | 7q32.2 |
| Quick Links | Entrez ID:23008; OMIM: NA; Uniprot ID:KLD10_HUMAN; ENSEMBL ID: ENSG00000128607,ENSG00000226848,ENSG00000237785; HGNC ID: 22194 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>KLHDC10|23008|nucleotide
ATGTCGGCCGCCCAGGGCTGGGACAGGAACCGCCGGAGGGGAGGAGGCGCCGCCGGCGCTGGTGGCGGAGGTAGCGGGGCCGGCGGGGGCAGTGGGGGCAGCGGG
GGTCGGGGGACTGGCCAGCTCAACCGCTTCGTGCAACTCTCCGGGCGGCCGCACCTGCCAGGTAAGAAGAAAATACGATGGGACCCAGTTAGGAGGCGCTTCATT
CAGTCCTGTCCCATCATAAGGATCCCTAACAGGTTTTTGAGAGGCCACAGACCTCCACCAGCACGAAGTGGACATCGTTGTGTGGCAGATAATACCAACCTATAT
GTGTTTGGAGGTTATAACCCAGATTATGATGAATCGGGAGGGCCTGATAATGAAGACTATCCTCTCTTCAGGGAACTCTGGAGGTATCATTTTGCTACAGGAGTA
TGGCACCAGATGGGCACAGATGGCTACATGCCCCGGGAATTGGCATCTATGTCACTTGTGCTGCATGGAAACAACCTGTTAGTATTTGGAGGTACGGGCATCCCA
TTTGGAGAGAGCAACGGCAATGACGTCCATGTGTGTAATGTGAAGTATAAGAGATGGGCTTTGCTCAGCTGTCGGGGGAAGAAACCCAGTCGTATATATGGACAG
GCTATGGCCATCATCAATGGCTCCCTTTATGTCTTTGGAGGTACAACCGGCTATATTTACAGCACAGACCTGCACAAGTTAGATCTCAATACCAGAGAGTGGACA
CAACTGAAACCAAACAACCTATCCTGTGATCTACCAGAAGAGAGATACCGACATGAAATTGCACATGACGGGCAGAGGATTTACATCTTGGGAGGTGGTACTTCC
TGGACAGCATATTCCTTAAACAAGATCCATGCATACAACCTTGAAACGAATGCCTGGGAGGAAATTGCAACAAAACCCCATGAAAAAATAGGCTTTCCTGCAGCC
CGAAGGTGTCACAGTTGTGTTCAAATAAAAAATGATGTATTTATTTGTGGGGGCTATAATGGAGAGGTGATCCTGGGAGATATCTGGAAGTTGAATCTGCAGACT
TTCCAATGGGTGAAGCTCCCAGCTACCATGCCAGAGCCAGTTTATTTTCACTGTGCAGCTGTTACACCAGCTGGTTGCATGTACATTCATGGAGGAGTGGTGAAC
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ATGTCGGCCGCCCAGGGCTGGGACAGGAACCGCCGGAGGGGAGGAGGCGCCGCCGGCGCTGGTGGCGGAGGTAGCGGGGCCGGCGGGGGCAGTGGGGGCAGCGGG
GGTCGGGGGACTGGCCAGCTCAACCGCTTCGTGCAACTCTCCGGGCGGCCGCACCTGCCAGGTAAGAAGAAAATACGATGGGACCCAGTTAGGAGGCGCTTCATT
CAGTCCTGTCCCATCATAAGGATCCCTAACAGGTTTTTGAGAGGCCACAGACCTCCACCAGCACGAAGTGGACATCGTTGTGTGGCAGATAATACCAACCTATAT
GTGTTTGGAGGTTATAACCCAGATTATGATGAATCGGGAGGGCCTGATAATGAAGACTATCCTCTCTTCAGGGAACTCTGGAGGTATCATTTTGCTACAGGAGTA
TGGCACCAGATGGGCACAGATGGCTACATGCCCCGGGAATTGGCATCTATGTCACTTGTGCTGCATGGAAACAACCTGTTAGTATTTGGAGGTACGGGCATCCCA
TTTGGAGAGAGCAACGGCAATGACGTCCATGTGTGTAATGTGAAGTATAAGAGATGGGCTTTGCTCAGCTGTCGGGGGAAGAAACCCAGTCGTATATATGGACAG
GCTATGGCCATCATCAATGGCTCCCTTTATGTCTTTGGAGGTACAACCGGCTATATTTACAGCACAGACCTGCACAAGTTAGATCTCAATACCAGAGAGTGGACA
CAACTGAAACCAAACAACCTATCCTGTGATCTACCAGAAGAGAGATACCGACATGAAATTGCACATGACGGGCAGAGGATTTACATCTTGGGAGGTGGTACTTCC
TGGACAGCATATTCCTTAAACAAGATCCATGCATACAACCTTGAAACGAATGCCTGGGAGGAAATTGCAACAAAACCCCATGAAAAAATAGGCTTTCCTGCAGCC
CGAAGGTGTCACAGTTGTGTTCAAATAAAAAATGATGTATTTATTTGTGGGGGCTATAATGGAGAGGTGATCCTGGGAGATATCTGGAAGTTGAATCTGCAGACT
TTCCAATGGGTGAAGCTCCCAGCTACCATGCCAGAGCCAGTTTATTTTCACTGTGCAGCTGTTACACCAGCTGGTTGCATGTACATTCATGGAGGAGTGGTGAAC
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>KLHDC10|23008|protein
MSAAQGWDRNRRRGGGAAGAGGGGSGAGGGSGGSGGRGTGQLNRFVQLSGRPHLPGKKKIRWDPVRRRFIQSCPIIRIPNRFLRGHRPPPARSGHRCVADNTNLY
VFGGYNPDYDESGGPDNEDYPLFRELWRYHFATGVWHQMGTDGYMPRELASMSLVLHGNNLLVFGGTGIPFGESNGNDVHVCNVKYKRWALLSCRGKKPSRIYGQ
AMAIINGSLYVFGGTTGYIYSTDLHKLDLNTREWTQLKPNNLSCDLPEERYRHEIAHDGQRIYILGGGTSWTAYSLNKIHAYNLETNAWEEIATKPHEKIGFPAA
RRCHSCVQIKNDVFICGGYNGEVILGDIWKLNLQTFQWVKLPATMPEPVYFHCAAVTPAGCMYIHGGVVNIHENKRTGSLFKIWLVVPSLLELAWEKLLAAFPNL
ANLSRTQLLHLGLTQGLIERLK
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MSAAQGWDRNRRRGGGAAGAGGGGSGAGGGSGGSGGRGTGQLNRFVQLSGRPHLPGKKKIRWDPVRRRFIQSCPIIRIPNRFLRGHRPPPARSGHRCVADNTNLY
VFGGYNPDYDESGGPDNEDYPLFRELWRYHFATGVWHQMGTDGYMPRELASMSLVLHGNNLLVFGGTGIPFGESNGNDVHVCNVKYKRWALLSCRGKKPSRIYGQ
AMAIINGSLYVFGGTTGYIYSTDLHKLDLNTREWTQLKPNNLSCDLPEERYRHEIAHDGQRIYILGGGTSWTAYSLNKIHAYNLETNAWEEIATKPHEKIGFPAA
RRCHSCVQIKNDVFICGGYNGEVILGDIWKLNLQTFQWVKLPATMPEPVYFHCAAVTPAGCMYIHGGVVNIHENKRTGSLFKIWLVVPSLLELAWEKLLAAFPNL
ANLSRTQLLHLGLTQGLIERLK
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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 (2) | 0 (0) | 1 (3) | 0 (0) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 12 (6) |
Syndromic Autism Gene TopGenome-Wide Association Studies (By Ethnic Group) Top Family Based Association Studies: 2
| Reference | Stage | Platform | #Families | Affecteds | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
||||||
| CAUCASIAN | |||||||||||
| Salyakina, 2010_1 | Discovery | Illumina HumanHap 550K BeadChip | 124 | - (-) |  |  | AS | - (3-21) |
- >70 | ||
| Salyakina, 2010_2 | Replication | Illumina HumanHap 550K BeadChip | 110 | - (-) | | | AS | - (3-21) |
- >70 | ||
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 TopLinkage Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Schellenberg, 2006 | USA | microsatellite-based genomic screen | | | autism | 222 | - | 222 | - | - | - | - |
| Lamb, 2005 | - | microsatellite-based genomic screen | | | autism | 207 | - | 207 | - | 420 | - | - |
| Allen-Brady, 2010 | USA | SNP-based genomic screen | | | ASD | 40 | - | 40 | - | 192 | 461 | 653 |
Low 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 |
|---|---|---|---|---|
| Takata A, 2018 | 262 | 262 | 322 | Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Di |
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.