Evidence Details for KIAA2018
Basic Information Top
| Gene Symbol: | KIAA2018 ( DKFZp781O0144 ) |
|---|---|
| Gene Full Name: | KIAA2018 |
| Band: | 3q13.2 |
| Quick Links | Entrez ID:205717; OMIM: NA; Uniprot ID:K2018_HUMAN; ENSEMBL ID: ENSG00000176542; HGNC ID: |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>KIAA2018|205717|nucleotide
ATGCCAGAAATGACAGAGAATGAGACGCCTACAAAAAAGCAGCACAGAAAGAAAAACCGGGAGACACACAATGCAGTGGAGAGGCATAGAAAGAAGAAAATTAAT
GCTGGGATAAACAGAATAGGAGAGCTGATCCCATGTTCTCCTGCCCTGAAGCAGAGCAAGAATATGATCCTGGACCAAGCCTTTAAATATATAACAGAATTGAAA
AGGCAAAATGATGAACTCCTGCTTAATGGAGGAAACAATGAACAAGCTGAAGAAATAAAAAAGCTACGGAAACAACTGGAAGAAATCCAAAAAGAAAATGGCCGA
TATATTGAATTACTGAAAGCTAATGACATATGCTTATATGATGACCCGACAATTCACTGGAAAGGAAATCTTAAAAACTCAAAGGTCTCTGTTGTTATTCCTAGT
GACCAGGTTCAAAAAAAAATTATTGTTTATTCCAACGGGAATCAGCCTGGTGGAAACAGCCAGGGAACAGCTGTTCAGGGGATAACTTTTAATGTTAGTCATAAT
TTACAAAAGCAGACCGCCAATGTGGTGCCAGTACAGAGGACTTGCAATCTTGTGACTCCTGTATCTATTTCTGGAGTTTACCCTTCTGAAAACAAGCCATGGCAT
CAGACCACAGTTCCTGCATTGGCTACCAACCAGCCTGTTCCTCTTTGTCTTCCTGCTGCCATTTCTGCTCAGAGTATTCTCGAGCTTCCCACCTCTGAAAGCGAA
TCAAATGTGCTTGGTGCCACTAGTGGCTCACTGATTGCTGTTTCAATTGAATCTGAGCCTCACCAACATCATTCTTTGCACACATGCCTAAATGATCAAAATTCT
TCTGAAAATAAGAATGGACAAGAGAACCCCAAAGTATTGAAGAAAATGACCCCTTGTGTTACAAACATCCCCCACAGCTCCTCAGCAACTGCCACTAAAGTGCAC
CATGGAAACAAGTCCTGCCTGAGCATACAGGACTTCAGAGGTGATTTTCAAAACACTTTTGTTGTTTCAGTTACCACCACAGTCTGCTCGCAGCCTCCCAGAACT
GCAGGTGATTCTTCTCCAATGAGCATTAGTAAGAGTGCAGACTTGACAAGTACAGCTACAGTGGTGGCATCATCTGCCCCTGGAGTAGGGAAGGCCACCATTCCT
Show »
ATGCCAGAAATGACAGAGAATGAGACGCCTACAAAAAAGCAGCACAGAAAGAAAAACCGGGAGACACACAATGCAGTGGAGAGGCATAGAAAGAAGAAAATTAAT
GCTGGGATAAACAGAATAGGAGAGCTGATCCCATGTTCTCCTGCCCTGAAGCAGAGCAAGAATATGATCCTGGACCAAGCCTTTAAATATATAACAGAATTGAAA
AGGCAAAATGATGAACTCCTGCTTAATGGAGGAAACAATGAACAAGCTGAAGAAATAAAAAAGCTACGGAAACAACTGGAAGAAATCCAAAAAGAAAATGGCCGA
TATATTGAATTACTGAAAGCTAATGACATATGCTTATATGATGACCCGACAATTCACTGGAAAGGAAATCTTAAAAACTCAAAGGTCTCTGTTGTTATTCCTAGT
GACCAGGTTCAAAAAAAAATTATTGTTTATTCCAACGGGAATCAGCCTGGTGGAAACAGCCAGGGAACAGCTGTTCAGGGGATAACTTTTAATGTTAGTCATAAT
TTACAAAAGCAGACCGCCAATGTGGTGCCAGTACAGAGGACTTGCAATCTTGTGACTCCTGTATCTATTTCTGGAGTTTACCCTTCTGAAAACAAGCCATGGCAT
CAGACCACAGTTCCTGCATTGGCTACCAACCAGCCTGTTCCTCTTTGTCTTCCTGCTGCCATTTCTGCTCAGAGTATTCTCGAGCTTCCCACCTCTGAAAGCGAA
TCAAATGTGCTTGGTGCCACTAGTGGCTCACTGATTGCTGTTTCAATTGAATCTGAGCCTCACCAACATCATTCTTTGCACACATGCCTAAATGATCAAAATTCT
TCTGAAAATAAGAATGGACAAGAGAACCCCAAAGTATTGAAGAAAATGACCCCTTGTGTTACAAACATCCCCCACAGCTCCTCAGCAACTGCCACTAAAGTGCAC
CATGGAAACAAGTCCTGCCTGAGCATACAGGACTTCAGAGGTGATTTTCAAAACACTTTTGTTGTTTCAGTTACCACCACAGTCTGCTCGCAGCCTCCCAGAACT
GCAGGTGATTCTTCTCCAATGAGCATTAGTAAGAGTGCAGACTTGACAAGTACAGCTACAGTGGTGGCATCATCTGCCCCTGGAGTAGGGAAGGCCACCATTCCT
Show »
>KIAA2018|205717|protein
MPEMTENETPTKKQHRKKNRETHNAVERHRKKKINAGINRIGELIPCSPALKQSKNMILDQAFKYITELKRQNDELLLNGGNNEQAEEIKKLRKQLEEIQKENGR
YIELLKANDICLYDDPTIHWKGNLKNSKVSVVIPSDQVQKKIIVYSNGNQPGGNSQGTAVQGITFNVSHNLQKQTANVVPVQRTCNLVTPVSISGVYPSENKPWH
QTTVPALATNQPVPLCLPAAISAQSILELPTSESESNVLGATSGSLIAVSIESEPHQHHSLHTCLNDQNSSENKNGQENPKVLKKMTPCVTNIPHSSSATATKVH
HGNKSCLSIQDFRGDFQNTFVVSVTTTVCSQPPRTAGDSSPMSISKSADLTSTATVVASSAPGVGKATIPISTLSGNPLDNGWTLSCSLPSSSVSTSDLKNINSL
TRISSAGNTQTTWTTLQLAGNTIQPLSQTPSSAVTPVLNESGTSPTTSNHSRYVATDINLNNSFPADGQPVEQVVVTLPSCPSLPMQPLIAQPQVKSQPPKNILP
Show »
MPEMTENETPTKKQHRKKNRETHNAVERHRKKKINAGINRIGELIPCSPALKQSKNMILDQAFKYITELKRQNDELLLNGGNNEQAEEIKKLRKQLEEIQKENGR
YIELLKANDICLYDDPTIHWKGNLKNSKVSVVIPSDQVQKKIIVYSNGNQPGGNSQGTAVQGITFNVSHNLQKQTANVVPVQRTCNLVTPVSISGVYPSENKPWH
QTTVPALATNQPVPLCLPAAISAQSILELPTSESESNVLGATSGSLIAVSIESEPHQHHSLHTCLNDQNSSENKNGQENPKVLKKMTPCVTNIPHSSSATATKVH
HGNKSCLSIQDFRGDFQNTFVVSVTTTVCSQPPRTAGDSSPMSISKSADLTSTATVVASSAPGVGKATIPISTLSGNPLDNGWTLSCSLPSSSVSTSDLKNINSL
TRISSAGNTQTTWTTLQLAGNTIQPLSQTPSSAVTPVLNESGTSPTTSNHSRYVATDINLNNSFPADGQPVEQVVVTLPSCPSLPMQPLIAQPQVKSQPPKNILP
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) | 1 (1) | 1 (1) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 4 (3) |
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 | ||||||
| Fan Y, 2016 | China | CMA | - | - | autism | - | - | - | - | 3 | - | 3 |
Linkage Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Allen-Brady, 2008 | - | SNP-based genomic screen |  | | ASD | 1 | - | 1 | - | 7 | 22 | 29 |
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.