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Relevance to Autism

A missense mutation in the KDM5C gene was detected in a nondysmorphic patient with developmental delay and autism spectrum disorder (Adegbola et al., 2008).

Molecular Function

This gene is a member of the SMCY homolog family and encodes a protein with one ARID domain, one JmjC domain, one JmjN domain and two PHD-type zinc fingers. The DNA-binding motifs suggest this protein is involved in the regulation of transcription and chromatin remodeling. Mutations in this gene have been associated with X-linked cognitive disability.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
A novel mutation in JARID1C/SMCX in a patient with autism spectrum disorder (ASD).
ASD
DD
Support
Large-scale discovery of novel genetic causes of developmental disorders.
Cognitive impairment
Support
Drosophila Histone Demethylase KDM5 Regulates Social Behavior through Immune Control and Gut Microbiota Maintenance.
Support
Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1.
ID
Support
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.
ID
Support
Altered Gene-Regulatory Function of KDM5C by a Novel Mutation Associated With Autism and Intellectual Disability.
ASD, DD
Microcephaly, cognitive impairment
Support
A de novo paradigm for mental retardation.
ID
Support
Exome sequencing in multiplex autism families suggests a major role for heterozygous truncating mutations.
ASD
Support
Using medical exome sequencing to identify the causes of neurodevelopmental disorders: experience of two clinical units and 216 patients.
ID
Microcephaly
Support
Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation.
ID
Support
Multilocus loss of DNA methylation in individuals with mutations in the histone H3 lysine 4 demethylase KDM5C.
Support
Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics.
DD
Behavioral abnormalities (stereotypic, self-injuri
Support
Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia.
ID
Support
A regulatory path associated with X-linked intellectual disability and epilepsy links KDM5C to the polyalanine expansions in ARX.
Support
Patient Mutations of the Intellectual Disability Gene KDM5C Downregulate Netrin G2 and Suppress Neurite Growth in Neuro2a Cells.
Support
Novel JARID1C/SMCX mutations in patients with X-linked mental retardation.
ID
Epilepsy
Support
A novel c.2T>C mutation of the KDM5C/JARID1C gene in one large family with X-linked intellectual disability.
ID
Support
Comprehensive molecular testing in patients with high functioning autism spectrum disorder.
ASD
Support
A novel mutation in JARID1C gene associated with mental retardation.
ID
Support
A novel nonsense mutation in KDM5C/JARID1C gene causing intellectual disability, short stature and speech delay.
ID
Highly Cited
Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation.
ID
Recent Recommendation
A Mouse Model of X-linked Intellectual Disability Associated with Impaired Removal of Histone Methylation.

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN435R001 
 missense_variant 
 c.2296C>T 
 p.Arg766Trp 
 Familial 
 Maternal 
  
 GEN435R002 
 missense_variant 
 c.2191C>T 
 p.Leu731Phe 
 Familial 
 Maternal 
 Multi-generational 
 GEN435R003 
 frameshift_variant 
 c.202_203insC 
 p.Arg68fsTer7 
 Familial 
 Maternal 
 Multiplex 
 GEN435R004 
 missense_variant 
 c.1162G>C 
 p.Ala388Pro 
 Familial 
 Maternal 
 Multi-generational 
 GEN435R005 
 stop_gained 
 c.2080C>T 
 p.Arg694Ter 
 Familial 
 Maternal 
 Multiplex 
 GEN435R006 
 stop_gained 
 c.3864G>A 
 p.Trp1288Ter 
 Likely familial 
 Likley maternal 
 Multiplex 
 GEN435R007 
 missense_variant 
 c.2092G>A 
 p.Glu698Lys 
 Unknown 
  
 Multiplex 
 GEN435R008 
 missense_variant 
 c.1204G>T 
 p.Asp402Tyr 
 Familial 
 Maternal 
 Multi-generational 
 GEN435R009 
 missense_variant 
 c.1353C>G 
 p.Ser451Arg 
 Familial 
 Maternal 
 Multiplex 
 GEN435R010 
 stop_gained 
 c.994C>T 
 p.Arg332Ter 
 Likely familial 
 Likely maternal 
 Multi-generational 
 GEN435R011 
 missense_variant 
 c.260A>G 
 p.Asp87Gly 
 Likely familial 
 Likely maternal 
 Multi-generational 
 GEN435R012 
 missense_variant 
 c.1924T>C 
 p.Phe642Leu 
 Likely familial 
 Likely maternal 
 Multi-generational 
 GEN435R013 
 missense_variant 
 c.2248C>T 
 p.Arg750Trp 
 Likely familial 
 Likely maternal 
 Multi-generational 
 GEN435R014 
 missense_variant 
 c.2252A>G 
 p.Tyr751Cys 
 Likely familial 
 Likely maternal 
 Multiplex 
 GEN435R015 
 missense_variant 
 c.229G>A 
 p.Ala77Thr 
 Familial 
 Maternal 
 Multi-generational 
 GEN435R016 
 missense_variant 
 c.1510G>A 
 p.Val504Met 
 Familial 
 Maternal 
 Multi-generational 
 GEN435R017 
 splice_site_variant 
 c.1583+5G>A 
 p.Glu468fsTer2 
 Unknown 
  
 Unknown 
 GEN435R018 
 frameshift_variant 
 c.4441_4442delAG 
 p.Arg1481fsTer9 
 Familial 
 Maternal 
 Multiplex 
 GEN435R019 
 frameshift_variant 
 c.3258_3259insC 
 p.Lys1087fsTer43 
 Familial 
 Maternal 
 Multiplex 
 GEN435R020 
 missense_variant 
 c.1160C>A 
 p.Pro554Thr 
 Familial 
 Maternal 
 Multi-generational 
 GEN435R021 
 stop_gained 
 c.2172C>A 
 p.Cys724Ter 
 Familial 
 Maternal 
 Multiplex 
 GEN435R022 
 initiator_codon_variant 
 c.2T > C 
 p.Met1Thr 
 Familial 
 Maternal 
 Multiplex 
 GEN435R023 
 synonymous_variant 
 c.1827C>T 
 p.(=) 
  
  
  
 GEN435R024 
 missense_variant 
 c.1251A>C 
 p.Thr418Ala 
 Familial 
 Maternal 
 Multiplex 
 GEN435R025 
 splice_site_variant 
 c.658-1G>T 
  
 Familial 
 Maternal 
 Multiplex 
 GEN435R026 
 missense_variant 
 c.2152G>C 
 p.Ala718Pro 
 De novo 
  
 Simplex 
 GEN435R027 
 frameshift_variant 
 c.1296dup 
 p.Glu433Ter 
 Familial 
 Maternal 
 Simplex 
 GEN435R028 
 missense_variant 
  
 p.Met1119Leu 
 Unknown 
  
  
 GEN435R029 
 missense_variant 
 c.3068A>G 
 p.Lys1023Arg 
 Unknown 
  
  
 GEN435R030 
 missense_variant 
 c.1919G>A 
 p.Cys640Thr 
 Familial 
 Maternal 
 Simplex 
 GEN435R031 
 stop_gained 
 c.2482C>T 
 p.Arg828Ter 
 Familial 
 Maternal 
 Possibly multi-generational 
 GEN435R032 
 missense_variant 
 c.3344G>A 
 p.Arg1115His 
 Familial 
 Maternal 
 Simplex 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
X
Deletion-Duplication
 20
 
X
Duplication
 1
 
X
Duplication
 1
 
X
Duplication
 1
 
X
Deletion
 1
 
X
Deletion
 4
 
X
Deletion-Duplication
 1
 
X
Deletion
 1
 
X
Deletion-Duplication
 14
 

No Animal Model Data Available


Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
ARHGAP25 Rho GTPase-activating protein 25 9938 P42331-2 IP; LC-MS/MS
Huttlin EL , et al. 2015
CHD8 chromodomain helicase DNA binding protein 8 57680 Q9HCK8 CHIP-seq
Cotney J , et al. 2015
DEF8 differentially expressed in FDCP 8 homolog (mouse) 54849 Q6ZN54 IP; LC-MS/MS
Huttlin EL , et al. 2015
HLA-F HLA class I histocompatibility antigen, alpha chain F 3134 P30511-3 IP; LC-MS/MS
Huttlin EL , et al. 2015
IER2 immediate early response 2 9592 Q9BTL4 IP; LC-MS/MS
Huttlin EL , et al. 2015
KIAA1683 KIAA1683 80726 Q9H0B3 IP; LC-MS/MS
Huttlin EL , et al. 2015
LHX6 LIM/homeobox protein Lhx6 26468 Q9UPM6-3 IP; LC-MS/MS
Huttlin EL , et al. 2015
OLFM2 Noelin-2 93145 O95897 IP; LC-MS/MS
Huttlin EL , et al. 2015
SCML4 Sex comb on midleg-like protein 4 256380 Q8N228-2 IP; LC-MS/MS
Huttlin EL , et al. 2015
SKP2 S-phase kinase-associated protein 2, E3 ubiquitin protein ligase 6502 B4DJT4 IP; LC-MS/MS
Huttlin EL , et al. 2015
SPATA1 spermatogenesis associated 1 NM_001081472 Q5VX52 IP; LC-MS/MS
Huttlin EL , et al. 2015
SSH3 Protein phosphatase Slingshot homolog 3 54961 Q8TE77-2 IP; LC-MS/MS
Huttlin EL , et al. 2015
TKT transketolase 7086 P29401 IP; LC-MS/MS
Huttlin EL , et al. 2015
TRIM35 tripartite motif containing 35 23087 Q9UPQ4 IP; LC-MS/MS
Huttlin EL , et al. 2015
ZMYND8 zinc finger, MYND-type containing 8 23613 Q9ULU4 IP; LC-MS/MS; IP/WB; in vitro binding assay; Co-localization
Shen H , et al. 2016
Ntsr2 neurotensin receptor 2 18217 P70310 ChIP-Seq; RNA-Seq
Iwase S , et al. 2016
Slc29a1 solute carrier family 29 (nucleoside transporters), member 1 63959 Q9JIM1 ChIP-Seq; RNA-Seq
Iwase S , et al. 2016

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