Evidence Details for KDM5C
Basic Information Top
| Gene Symbol: | KDM5C ( DXS1272E,JARID1C,MRXJ,MRXSJ,SMCX,XE169 ) |
|---|---|
| Gene Full Name: | lysine (K)-specific demethylase 5C |
| Band: | Xp11.22 |
| Quick Links | Entrez ID:8242; OMIM: 314690; Uniprot ID:KDM5C_HUMAN; ENSEMBL ID: ENSG00000126012; HGNC ID: 11114 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>KDM5C|8242|nucleotide
ATGGAGCCGGGGTCCGACGATTTCCTACCGCCACCGGAGTGCCCGGTGTTCGAGCCTAGCTGGGCCGAGTTCCGAGACCCTCTTGGCTACATCGCGAAAATCAGG
CCCATCGCAGAGAAATCGGGCATTTGCAAGATCCGCCCACCCGCGATTGTGGTGGAGGAAGGTGGTTATGAAGCTATCTGCAAGGACCGTCGGTGGGCTCGGGTA
GCCCAGCGCCTCAACTATCCACCAGGCAAAAATATTGGCTCCTTGCTACGCTCCCACTACGAACGCATTGTTTATCCCTATGAAATGTACCAGTCTGGAGCCAAC
CTTGTGCAGTGTAACACACGTCCATTTGATAATGAGGAGAAGGACAAGGAATACAAACCCCACAGCATCCCCCTACGACAGTCTGTGCAGCCTTCCAAGTTCAAC
AGCTATGGCCGGCGGGCCAAGAGACTGCAGCCTGATCCGGAACCCACAGAGGAAGACATTGAGAAGAATCCAGAGCTGAAAAAGCTACAGATCTATGGGGCAGGC
CCCAAGATGATGGGCCTGGGCCTCATGGCCAAAGACAAGACTCTGCGGAAGAAAGATAAGGAGGGGCCTGAGTGTCCCCCCACAGTAGTGGTGAAGGAGGAGTTA
GGTGGGGATGTGAAGGTGGAGTCAACATCGCCTAAGACCTTCCTGGAGAGCAAGGAGGAGCTGAGTCACAGCCCAGAACCCTGCACCAAGATGACCATGAGGCTA
CGGAGGAACCACAGCAATGCCCAGTTTATTGAGTCATATGTCTGCCGGATGTGTTCTCGAGGGGATGAGGATGACAAGCTCCTGCTGTGTGATGGCTGTGATGAC
AACTACCACATCTTCTGCCTGCTGCCTCCTCTGCCTGAGATCCCCAAGGGTGTCTGGCGGTGCCCAAAGTGTGTCATGGCGGAGTGTAAGCGGCCCCCAGAAGCC
TTTGGCTTTGAGCAGGCTACCCGGGAATACACTCTGCAGAGCTTTGGCGAGATGGCCGACTCCTTTAAAGCTGACTACTTCAACATGCCCGTGCATATGGTGCCC
ACAGAACTTGTGGAGAAGGAGTTCTGGAGGCTGGTAAATAGCATTGAGGAAGATGTGACTGTTGAGTATGGAGCTGACATCCATTCCAAAGAATTTGGCAGCGGT
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ATGGAGCCGGGGTCCGACGATTTCCTACCGCCACCGGAGTGCCCGGTGTTCGAGCCTAGCTGGGCCGAGTTCCGAGACCCTCTTGGCTACATCGCGAAAATCAGG
CCCATCGCAGAGAAATCGGGCATTTGCAAGATCCGCCCACCCGCGATTGTGGTGGAGGAAGGTGGTTATGAAGCTATCTGCAAGGACCGTCGGTGGGCTCGGGTA
GCCCAGCGCCTCAACTATCCACCAGGCAAAAATATTGGCTCCTTGCTACGCTCCCACTACGAACGCATTGTTTATCCCTATGAAATGTACCAGTCTGGAGCCAAC
CTTGTGCAGTGTAACACACGTCCATTTGATAATGAGGAGAAGGACAAGGAATACAAACCCCACAGCATCCCCCTACGACAGTCTGTGCAGCCTTCCAAGTTCAAC
AGCTATGGCCGGCGGGCCAAGAGACTGCAGCCTGATCCGGAACCCACAGAGGAAGACATTGAGAAGAATCCAGAGCTGAAAAAGCTACAGATCTATGGGGCAGGC
CCCAAGATGATGGGCCTGGGCCTCATGGCCAAAGACAAGACTCTGCGGAAGAAAGATAAGGAGGGGCCTGAGTGTCCCCCCACAGTAGTGGTGAAGGAGGAGTTA
GGTGGGGATGTGAAGGTGGAGTCAACATCGCCTAAGACCTTCCTGGAGAGCAAGGAGGAGCTGAGTCACAGCCCAGAACCCTGCACCAAGATGACCATGAGGCTA
CGGAGGAACCACAGCAATGCCCAGTTTATTGAGTCATATGTCTGCCGGATGTGTTCTCGAGGGGATGAGGATGACAAGCTCCTGCTGTGTGATGGCTGTGATGAC
AACTACCACATCTTCTGCCTGCTGCCTCCTCTGCCTGAGATCCCCAAGGGTGTCTGGCGGTGCCCAAAGTGTGTCATGGCGGAGTGTAAGCGGCCCCCAGAAGCC
TTTGGCTTTGAGCAGGCTACCCGGGAATACACTCTGCAGAGCTTTGGCGAGATGGCCGACTCCTTTAAAGCTGACTACTTCAACATGCCCGTGCATATGGTGCCC
ACAGAACTTGTGGAGAAGGAGTTCTGGAGGCTGGTAAATAGCATTGAGGAAGATGTGACTGTTGAGTATGGAGCTGACATCCATTCCAAAGAATTTGGCAGCGGT
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>KDM5C|8242|protein
MEPGSDDFLPPPECPVFEPSWAEFRDPLGYIAKIRPIAEKSGICKIRPPAIVVEEGGYEAICKDRRWARVAQRLNYPPGKNIGSLLRSHYERIVYPYEMYQSGAN
LVQCNTRPFDNEEKDKEYKPHSIPLRQSVQPSKFNSYGRRAKRLQPDPEPTEEDIEKNPELKKLQIYGAGPKMMGLGLMAKDKTLRKKDKEGPECPPTVVVKEEL
GGDVKVESTSPKTFLESKEELSHSPEPCTKMTMRLRRNHSNAQFIESYVCRMCSRGDEDDKLLLCDGCDDNYHIFCLLPPLPEIPKGVWRCPKCVMAECKRPPEA
FGFEQATREYTLQSFGEMADSFKADYFNMPVHMVPTELVEKEFWRLVNSIEEDVTVEYGADIHSKEFGSGFPVSDSKRHLTPEEEEYATSGWNLNVMPVLEQSVL
CHINADISGMKVPWLYVGMVFSAFCWHIEDHWSYSINYLHWGEPKTWYGVPSLAAEHLEEVMKKLTPELFDSQPDLLHQLVTLMNPNTLMSHGVPVVRTNQCAGE
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MEPGSDDFLPPPECPVFEPSWAEFRDPLGYIAKIRPIAEKSGICKIRPPAIVVEEGGYEAICKDRRWARVAQRLNYPPGKNIGSLLRSHYERIVYPYEMYQSGAN
LVQCNTRPFDNEEKDKEYKPHSIPLRQSVQPSKFNSYGRRAKRLQPDPEPTEEDIEKNPELKKLQIYGAGPKMMGLGLMAKDKTLRKKDKEGPECPPTVVVKEEL
GGDVKVESTSPKTFLESKEELSHSPEPCTKMTMRLRRNHSNAQFIESYVCRMCSRGDEDDKLLLCDGCDDNYHIFCLLPPLPEIPKGVWRCPKCVMAECKRPPEA
FGFEQATREYTLQSFGEMADSFKADYFNMPVHMVPTELVEKEFWRLVNSIEEDVTVEYGADIHSKEFGSGFPVSDSKRHLTPEEEEYATSGWNLNVMPVLEQSVL
CHINADISGMKVPWLYVGMVFSAFCWHIEDHWSYSINYLHWGEPKTWYGVPSLAAEHLEEVMKKLTPELFDSQPDLLHQLVTLMNPNTLMSHGVPVVRTNQCAGE
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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) | Yes | 0 (0) | 1 (3) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (2) | 1 (1) | 12 (6) |
Syndromic Autism Gene TopAbbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.
| Inheritance | XL |
|---|---|
| OMIM | Mental retardation, X-linked, syndromic, JARID1C-related (300534) |
| Description | Large spectrum of phenotypes including ID with microcephaly, spasticity, short stature, epilepsy, and facial anomalies, as well as non-syndromic ID |
| Reference(s) | 18203167; |
| Level | Level 1: The gene has only been reported in single cases with ASD/autistic features. Additional evidences are needed. |
Genome-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 | ||||||
| Edens, 2011 | Honduras | aCGH |  |  | autism | - | - | - | - | 1 | - | 1 |
| Edens, 2011 | Austria | FISH, aCGH | | | autism | - | - | - | - | 1 | - | 1 |
| Edens, 2011 | Honduras | aCGH | | | autism | - | - | - | - | 1 | - | 1 |
| Edens, 2011 | Austria | FISH, aCGH | | | autism | - | - | - | - | 1 | - | 1 |
| Fieremans N, 2015 | - | X chromosome-specific aCGH | - | - | - | 1 | 1 | - | - | 1 | - | 1 |
Linkage Studies TopLow Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS de novo Mutation Studies TopNGS Mosaic SNV Studies TopNGS Other Studies Top| Reference | Source | Platform | ADI-R | ADOS | Diagnosis | Family | Affected | Validation Method | ||
|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | ||||||||
| Toma C, 2014 | - | Illumina HiSeq 2000 | - | - | ASD | 10 | - | - | 21 | - |
| Alvarez-Mora MI, 2016 | - | Illumina MiSeq | | | ASD | - | - | - | 44 | Sanger sequencing |
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.