AutismKB 2.0

Evidence Details for KIAA1210


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Basic Information Top
Gene Symbol:KIAA1210 ( - )
Gene Full Name: KIAA1210
Band: Xq24
Quick LinksEntrez ID:57481; OMIM: NA; Uniprot ID:K1210_HUMAN; ENSEMBL ID: ENSG00000175553; HGNC ID: 29218
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>KIAA1210|57481|nucleotide
ATGAGGGCCGGCTGGACGCCTCGAGGCTTCTCTGCCTTTCACGCTTCTCTCCTTCCTGGCCGGCACCCCTACCTGGCTCACCTGGGCCCCAGGGACCGAGGGGCC
AGGATTGGAAGTCGAGCGTATTCCCAAGGCTGTTGCAGTTGTCTTTGGTTGACTTACAAAGGCAAGAAGGAGGGAAGCACCAAGGGGGAGCTTGGCCCAGCTGCA
GTGACTGACCTGGAAATACCTAGTTATTCCCGGGGCTTCCTGCCCTGCACACCGCGATTCCCTACCACTTGGTGCAGGGGACCTGGATGCTTTTGTGGCACTGCA
GTGATTGCTGGTAATCTTGGGGATCTGGCCAGGATAGTGGGCCCCTCACATCATGCTAGTCAGCTTCTCCTACTCCAAGAACAGGATTCAGGAAATCATCCTACA
ATGGCTGAATCACTAAGTGAAATTTCTGACAGTCTGGATGTTCTGGAGGCCGGTGATGAGGGAAAGAAGAAATGCAAATTTAAAGCCCTTAAGAGCTTTTTTGTT
AAGAAGAAGGAAAAAGAAGCCGAAGATACCCAGGAAGAAGAAATGCTAGAACTGAGCTTGTCCAGCAGCAACATTAACATCTCTTCTCTGCAGCCCGTTCGGGAA
AATCAACCAACTAAGGCCAGGGCCAAGAGCAGCATGGGGAGCAAAGCCCTATCCCATGATAGCATCTTCATGTTGGGTCCTGAGCCTGAAAGATCAGCAAGTAAA
ATGTTTCCTTCTATGGATCCCCAGAGAGGCAGACCTCAGCAGAGATCCCATATTTCCAGAACTCTGCCTAAACCTAGGAGTAAGGTTCCTGGAGTTGTGTCTGGA
GCCATGTCAGGAGCTGTGCTTCAAAATGTGCCTACAAGTGCAGTCTGGGTTGCTGGCCCCAAGATCACTGAGAACCCACCATCGCGCCGACGCCGACTCAGCATC
ATCCCACCTGTTATCCAACCTGAAATAATTTCTAAGAACTTGGTAGAAATCTCTCTCGATGATGAGTCACCTAAGAATCCACAAAAGAAGGCTTTACCACATAAG
AGTTTGACAGCGACTCAGAGCTTCTCTGAGTTATCATCTGGACCTGATTGCTCACAGTCCTTGACTGCATTTGCCACACTTGCCTCTACCAGTAGCACCCAGCTG
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>KIAA1210|57481|protein
MRAGWTPRGFSAFHASLLPGRHPYLAHLGPRDRGARIGSRAYSQGCCSCLWLTYKGKKEGSTKGELGPAAVTDLEIPSYSRGFLPCTPRFPTTWCRGPGCFCGTA
VIAGNLGDLARIVGPSHHASQLLLLQEQDSGNHPTMAESLSEISDSLDVLEAGDEGKKKCKFKALKSFFVKKKEKEAEDTQEEEMLELSLSSSNINISSLQPVRE
NQPTKARAKSSMGSKALSHDSIFMLGPEPERSASKMFPSMDPQRGRPQQRSHISRTLPKPRSKVPGVVSGAMSGAVLQNVPTSAVWVAGPKITENPPSRRRRLSI
IPPVIQPEIISKNLVEISLDDESPKNPQKKALPHKSLTATQSFSELSSGPDCSQSLTAFATLASTSSTQLPIGFSTPATTQGCLDSSAARHKMTLNPRKQKKNLQ
VIIRGLPVWFSHFQGILEGSLQCVTQTLETPNLDEPLPVEPKEEEPNLPLVSEEEKSITKPKEINEKKLGMDSADSSSQKQNNKTEMYDKKTTDQAPNTDASRSQ
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Evidence summary Top

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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) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) (0)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Reference Source Platform ADI-R ADOS Diagnosis Family Affected Validation Method
Total Simplex Multiplex
Nava C, 2012 France -ASD 12 - 12 - -
Low Scale Gene Studies Top

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Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018