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Relevance to Autism

A variant in the 5'UTR of the HCFC1 gene was found to completely segregate with intellectual disability in the MRX3 pedigree. This variant, which resided in the binding site of the transcription factor YY1, abolished YY1 binding and led to increased HCFC1 expression. Two additional unique HCFC1 variants were identified in follow-up exome sequencing of probands from unresolved families affected by intellectual disability, one of which was shown to segregate with ID (Huang et al., 2012).

Molecular Function

Involved in control of the cell cycle.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability.
ID
Support
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.
ID
Support
Analysis of the effects of rare variants on splicing identifies alterations in GABAA receptor genes in autism spectrum disorder individuals.
ASD, SCZ
Support
The Clinical and Genetic Features of Co-occurring Epilepsy and Autism Spectrum Disorder in Chinese Children.
ASD, epilepsy/seizures
Support
Neurological Diseases With Autism Spectrum Disorder: Role of ASD Risk Genes.
ASD
ID
Support
Genomic diagnosis for children with intellectual disability and/or developmental delay.
ID, epilepsy/seizures
Autistic features
Support
A novel HCFC1 variant in male siblings with intellectual disability and microcephaly in the absence of cobalamin disorder.
ID
Microcephaly
Support
Large-scale discovery of novel genetic causes of developmental disorders.
ID
Recent Recommendation
An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1.
cblX
DD, epilepsy

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN430R001 
 5_prime_UTR_variant 
 c.-970T>C 
  
 Familial 
 Maternal 
 Multi-generational 
 GEN430R002 
 missense_variant 
 c.674G>A 
 p.Ser225Asn 
 Familial 
 Maternal 
 Multi-generational 
 GEN430R003 
 missense_variant 
 c.5267C>T 
 p.Ala1756Val 
 Unknown 
  
 Multi-generational 
 GEN430R004 
 missense_variant 
 c.2626G>A 
 p.Gly876Ser 
 Familial 
 Maternal 
 Simplex 
 GEN430R005 
 missense_variant 
 c.722C>T 
 p.Thr241Met 
 Unknown 
  
 Multiplex 
 GEN430R006 
 missense_variant 
 c.344C>T 
 p.Ala115Val 
 Familial 
 Maternal 
 Simplex 
 GEN430R007 
 missense_variant 
 c.344C>T 
 p.Ala115Val 
 Unknown 
  
 Unknown 
 GEN430R008 
 missense_variant 
 c.343G>A 
 p.Ala115Thr 
 Unknown 
  
 Unknown 
 GEN430R009 
 missense_variant 
 c.218C>T 
 p.Ala73Val 
 De novo 
 NA 
 Simplex 
 GEN430R010 
 missense_variant 
 c.218C>T 
 p.Ala73Val 
 Unknown 
  
 Unknown 
 GEN430R011 
 missense_variant 
 c.217G>A 
 p.Ala73Thr 
 Unknown 
  
 Unknown 
 GEN430R012 
 missense_variant 
 c.202C>G 
 p.Gln68Glu 
 Unknown 
  
 Unknown 
 GEN430R013 
 missense_variant 
 c.2285C>T 
 p.Thr762Ile 
 Familial 
 Maternal 
 Multi-generational 
 GEN430R014 
 missense_variant 
 c.218C>T 
 p.Ala73Val 
 Familial 
 Maternal 
 Multiplex 
 GEN430R015 
 missense_variant 
 c.2690C>T 
 p.Ala897Val 
 Familial 
 Maternal 
 Multiplex 
 GEN430R016 
 missense_variant 
 c.5114C>G 
 p.Ala1705Gly 
 De novo 
 NA 
  
 GEN430R017 
 missense_variant 
 c.1429G>A 
 p.Ala477Thr 
 Familial 
 Maternal 
  
 GEN430R018 
 missense_variant 
 c.5305G>A 
 p.Val1769Met 
 Familial 
 Maternal 
  
 GEN430R019 
 missense_variant 
 c.2860G>A 
 p.Val954Met 
 Familial 
 Maternal 
  

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
X
Deletion
 1
 
X
Duplication
 1
 
X
Deletion-Duplication
 18
 
X
Deletion
 2
 
X
Deletion
 1
 
X
Deletion
 1
 
X
Deletion-Duplication
 1
 
X
Deletion
 2
 
X
Deletion-Duplication
 1
 
X
Deletion
 7
 
X
Deletion-Duplication
 65
 

No Animal Model Data Available


Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
CAMK2D calcium/calmodulin-dependent protein kinase II delta 817 Q13557 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
CREB3 cAMP responsive element binding protein 3 NM_006368 O43889 IP; LC-MS/MS
Huttlin EL , et al. 2015
CUL3 cullin 3 8452 B7Z600 IP; MS; COMPASS
Bennett EJ , et al. 2010
DDAH2 N(G),N(G)-dimethylarginine dimethylaminohydrolase 2 23564 O95865 IP; LC-MS/MS
Huttlin EL , et al. 2015
FOXRED1 FAD-dependent oxidoreductase domain containing 1 55572 Q96CU9 IP; LC-MS/MS
Huttlin EL , et al. 2015
HCFC1R1 Host cell factor C1 regulator 1 54985 Q9NWW0-2 IP; LC-MS/MS
Huttlin EL , et al. 2015
HCFC2 host cell factor C2 29915 Q9Y5Z7 IP; LC-MS/MS
Huttlin EL , et al. 2015
KMT2E lysine (K)-specific methyltransferase 2E 55904 Q8IZD2 IP; LC-MS/MS
Ding X , et al. 2015
MLL5 lysine (K)-specific methyltransferase 2E NM_018682 Q8IZD2 MALDI-TOF; MS; IP/WB
Fujiki R , et al. 2009
NFE2L3 nuclear factor (erythroid-derived 2)-like 3 9603 Q9Y4A8 IP; LC-MS/MS
Huttlin EL , et al. 2015
OGT O-linked N-acetylglucosamine (GlcNAc) transferase 8473 O15294 in vitro binding assay; in vitro proteolysis assay
Bhuiyan T , et al. 2015
PHF8 PHD finger protein 8 23133 Q9UPP1 ChIP; IP/WB
Liu W , et al. 2010
SNRPN small nuclear ribonucleoprotein polypeptide N 6638 P63162 IP/WB
Ajuh P , et al. 2002
THAP11 THAP domain containing 11 57215 Q96EK4 IP; LC-MS/MS
Huttlin EL , et al. 2015
THAP2 THAP domain containing, apoptosis associated protein 2 NM_031435 Q9H0W7 IP; LC-MS/MS
Huttlin EL , et al. 2015
TOP3B topoisomerase (DNA) III beta 8940 O95985 HITS-CLIP
Xu D , et al. 2013

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