Evidence Details for KIAA0947
Basic Information Top
| Gene Symbol: | KIAA0947 ( DKFZp781J2344 ) |
|---|---|
| Gene Full Name: | KIAA0947 |
| Band: | 5p15.32 |
| Quick Links | Entrez ID:23379; OMIM: NA; Uniprot ID:K0947_HUMAN; ENSEMBL ID: ENSG00000164151; HGNC ID: |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>KIAA0947|23379|nucleotide
ATGATGCCGGGCGAGACCCATTCGGCGGCGCCCGGGACGGCGGCGGACCTGTCGCGATGTCAGGGCTGCGCCTCTCTGCAGCAGAATTTGAATGAATATGTTGAA
GCATTAATTACCTTGAAACAAAAAATTATCAATACAGATAATTTGTTAACAGAATATCAGAAGAAATGTGATGAGCTGCAGTTTGCAAGAAGAGAGAATAGTAAT
CTGCATCACCAAGTGGAAGAGATGCTTCAAAAAATTTCTCCTCTACAGAAATGTCAGGAAGAACTGGGATCTTTAAAAGCAGAGCTAGAAGAGAAAAAGAGTTCT
TTAAAGTTGTATCAGGATACTCATCAGGAATATGCTCGTGTAAAGGAAGAATGCTTGAAGAGTGATGCTCAGAAGAAGAAACTAGAAGCTAAGGTGAAGAAGCTG
CAAGAGGCTGCTGTCAAGCAAACTCAGGACTTCAAGCAACTGAGAAATGAAAAGAAAATACTTGAAAAGGAATTTAAGAAGACACAGGAAAGGCTTGACGAATTT
TCTAAACAGAAAAATGAAAAGGAGTTGAGACATATTGGAACACAAATTTCAAGTGATTCATATGGAAGCATAGATAAAAGAAAAGTGAAACTGCTTCTGAAGGAA
CTCTGGCTCTGTGTAAACACAACACACAGACTACCTGGTGAAGGCAGCAGGTGTGTCCCAGAAAAACCTGCCAAAGCAATCACCAGCTCCAGAGTGCCTGGGGAA
GATGGTACGCTACCTCCAACACAGGGCAGCCCTCTCAGGACCTCAAATGTGCAGACATGCCTCACAAAACTGTCCATGGAGATAAAGGAGGACTTTTTATGTCAA
AATGTGGAAAAACAGAGCTCCAGTGGAACAAATTGTAGTTCTGACCATGTTTTTAATGAGAATGGAAATCTTGAGGTTTTAGTACAAAGTCATCGTGACGGTGGT
AGTACTGAATTTGTTGATCATGATCATTTTTTTGATGAAGATCTTCAAGCTGCAATTGACTTCTTCAAACTTCCCCCTCCTCTTCTGTCACCAGTGCCCTCGCCC
CCTCCGATGTCATCACCTCACCCGGGTTCCTTACCGTCTTCATTTGCACCTGAAACCTACTTTGGAGAATACACAGATTCCAGCGATAATGACTCAGTCCAGCTT
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ATGATGCCGGGCGAGACCCATTCGGCGGCGCCCGGGACGGCGGCGGACCTGTCGCGATGTCAGGGCTGCGCCTCTCTGCAGCAGAATTTGAATGAATATGTTGAA
GCATTAATTACCTTGAAACAAAAAATTATCAATACAGATAATTTGTTAACAGAATATCAGAAGAAATGTGATGAGCTGCAGTTTGCAAGAAGAGAGAATAGTAAT
CTGCATCACCAAGTGGAAGAGATGCTTCAAAAAATTTCTCCTCTACAGAAATGTCAGGAAGAACTGGGATCTTTAAAAGCAGAGCTAGAAGAGAAAAAGAGTTCT
TTAAAGTTGTATCAGGATACTCATCAGGAATATGCTCGTGTAAAGGAAGAATGCTTGAAGAGTGATGCTCAGAAGAAGAAACTAGAAGCTAAGGTGAAGAAGCTG
CAAGAGGCTGCTGTCAAGCAAACTCAGGACTTCAAGCAACTGAGAAATGAAAAGAAAATACTTGAAAAGGAATTTAAGAAGACACAGGAAAGGCTTGACGAATTT
TCTAAACAGAAAAATGAAAAGGAGTTGAGACATATTGGAACACAAATTTCAAGTGATTCATATGGAAGCATAGATAAAAGAAAAGTGAAACTGCTTCTGAAGGAA
CTCTGGCTCTGTGTAAACACAACACACAGACTACCTGGTGAAGGCAGCAGGTGTGTCCCAGAAAAACCTGCCAAAGCAATCACCAGCTCCAGAGTGCCTGGGGAA
GATGGTACGCTACCTCCAACACAGGGCAGCCCTCTCAGGACCTCAAATGTGCAGACATGCCTCACAAAACTGTCCATGGAGATAAAGGAGGACTTTTTATGTCAA
AATGTGGAAAAACAGAGCTCCAGTGGAACAAATTGTAGTTCTGACCATGTTTTTAATGAGAATGGAAATCTTGAGGTTTTAGTACAAAGTCATCGTGACGGTGGT
AGTACTGAATTTGTTGATCATGATCATTTTTTTGATGAAGATCTTCAAGCTGCAATTGACTTCTTCAAACTTCCCCCTCCTCTTCTGTCACCAGTGCCCTCGCCC
CCTCCGATGTCATCACCTCACCCGGGTTCCTTACCGTCTTCATTTGCACCTGAAACCTACTTTGGAGAATACACAGATTCCAGCGATAATGACTCAGTCCAGCTT
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>KIAA0947|23379|protein
MMPGETHSAAPGTAADLSRCQGCASLQQNLNEYVEALITLKQKIINTDNLLTEYQKKCDELQFARRENSNLHHQVEEMLQKISPLQKCQEELGSLKAELEEKKSS
LKLYQDTHQEYARVKEECLKSDAQKKKLEAKVKKLQEAAVKQTQDFKQLRNEKKILEKEFKKTQERLDEFSKQKNEKELRHIGTQISSDSYGSIDKRKVKLLLKE
LWLCVNTTHRLPGEGSRCVPEKPAKAITSSRVPGEDGTLPPTQGSPLRTSNVQTCLTKLSMEIKEDFLCQNVEKQSSSGTNCSSDHVFNENGNLEVLVQSHRDGG
STEFVDHDHFFDEDLQAAIDFFKLPPPLLSPVPSPPPMSSPHPGSLPSSFAPETYFGEYTDSSDNDSVQLRNSAECVSEDDTTESQNYFGSLRKNKGSGTWEEKP
KSHEAIQALNTWEVNKVTTSGLETFTATLRESSATHSLVGEKHWTTASRSMSDRKRDILHETKTQMEVREMDKSVQTEKTIHKLTRGLCIERLSASPAQEKEAAP
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MMPGETHSAAPGTAADLSRCQGCASLQQNLNEYVEALITLKQKIINTDNLLTEYQKKCDELQFARRENSNLHHQVEEMLQKISPLQKCQEELGSLKAELEEKKSS
LKLYQDTHQEYARVKEECLKSDAQKKKLEAKVKKLQEAAVKQTQDFKQLRNEKKILEKEFKKTQERLDEFSKQKNEKELRHIGTQISSDSYGSIDKRKVKLLLKE
LWLCVNTTHRLPGEGSRCVPEKPAKAITSSRVPGEDGTLPPTQGSPLRTSNVQTCLTKLSMEIKEDFLCQNVEKQSSSGTNCSSDHVFNENGNLEVLVQSHRDGG
STEFVDHDHFFDEDLQAAIDFFKLPPPLLSPVPSPPPMSSPHPGSLPSSFAPETYFGEYTDSSDNDSVQLRNSAECVSEDDTTESQNYFGSLRKNKGSGTWEEKP
KSHEAIQALNTWEVNKVTTSGLETFTATLRESSATHSLVGEKHWTTASRSMSDRKRDILHETKTQMEVREMDKSVQTEKTIHKLTRGLCIERLSASPAQEKEAAP
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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 (2) | 1 (1) | 0 (0) | 0 (0) | 0 (2) | 0 (0) | 0 (0) | 0 (0) | 2 (5) |
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 | ||||||
| Marshall, 2008 | - | SNP microarray |  | | ASD | 427 | 238 | 189 | - | 427 | 500 | 927 |
| Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
Linkage Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Buxbaum, 2001 | USA | microsatellite-based genomic screen | |  | autism, PDD, Asperger syndrome | 35 | - | 35 | - | - | - | - |
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 |
|---|---|---|---|---|
| De Rubeis S, 2014 | 2270 | - | 1702 | Synaptic, transcriptional and chromatin genes disrupted in autism |
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.