Summary Statistics:
Gene Score: 3
Relevance to Autism
A de novo LoF variant and a de novo missense variant that is predicted to be damaging were identified in ASD probands from the Simons Simplex Collection and the Autism Sequencing Consortium, respectively (PMID 22495309, 25363760). Analysis of rare coding variation in 3,871 ASD cases and 9,937 ancestry-matched or paternal controls from the Autism Sequencing Consortium (ASC) identified CDC42BPB as a gene meeting high statistical significance with a 0.05 < FDR 0.1, meaning that this gene had a 90% chance of being a true autism gene (PMID 25363760). Chilton et al., 2020 identified 12 heterozygous predicted deleterious variants in the CDC42BPB gene in 14 unrelated individuals with neurodevelopmental disorders including developmental delay (12/13), intellectual disability (7/13), a diagnosis of autism spectrum disorder or autistic features (8/12), hypotonia (8/11), and structural brain abnormalities (6/12).
Molecular Function
This gene encodes a serine/threonine-protein kinase that is an important downstream effector of CDC42 and plays a role in the regulation of cytoskeleton reorganization and cell migration.
References
Primary
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
ASD
Support
Large-scale discovery of novel genetic causes of developmental disorders.
Unknown diagnosis
Support
Integrating de novo and inherited variants in 42
ASD
Support
Prevalence and phenotypic impact of rare potentially damaging variants in autism spectrum disorder
ASD
Support
The landscape of somatic mutation in cerebral cortex of autistic and neurotypical individuals revealed by ultra-deep whole-genome sequencing
ASD
Support
Whole genome sequencing and variant discovery in the ASPIRE autism spectrum disorder cohort.
ASD
Support
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
ASD
Support
Excess of rare, inherited truncating mutations in autism.
ASD
Support
ASD, ID, epilepsy/seizures
Recent recommendation
De novo heterozygous missense and loss-of-function variants in CDC42BPB are associated with a neurodevelopmental phenotype.
DD
ASD or autistic features, ID
Recent Recommendation
Low load for disruptive mutations in autism genes and their biased transmission.
ASD
Recent Recommendation
Synaptic, transcriptional and chromatin genes disrupted in autism.
ASD
GEN657R001
stop_gained
c.2290C>T
p.Arg764Ter
De novo
Simplex
GEN657R002
missense_variant
c.4951G>A
p.Val1651Met
De novo
Simplex
GEN657R003
missense_variant
c.4175C>G
p.Ser1392Cys
Familial
Paternal
Simplex
GEN657R004
missense_variant
c.1876A>G
p.Arg626Gly
Familial
Paternal
Simplex
GEN657R005
missense_variant
c.3265G>C
p.Asp1089His
Familial
Paternal
Simplex
GEN657R006
missense_variant
c.1295G>A
p.Arg432Gln
Familial
Paternal
Simplex
GEN657R007
missense_variant
c.376G>A
p.Asp126Asn
Familial
Maternal
Simplex
GEN657R008
frameshift_variant
c.1457_1460del
p.Glu486AlafsTer4
Unknown
Unknown
GEN657R009
splice_site_variant
c.597-1del
Unknown
Unknown
GEN657R010
missense_variant
c.3388G>C
p.Asp1130His
Unknown
Unknown
GEN657R011
missense_variant
c.822G>A
p.Met274Ile
Unknown
Unknown
GEN657R012
missense_variant
c.823C>A
p.Leu275Ile
Unknown
Unknown
GEN657R013
missense_variant
c.351G>C
p.Glu117Asp
Unknown
Unknown
GEN657R014
missense_variant
c.3784C>T
p.Leu1262Phe
Unknown
Unknown
GEN657R015
missense_variant
c.1166C>G
p.Thr389Arg
Unknown
Unknown
GEN657R016
frameshift_variant
c.1067dup
p.Tyr357LeufsTer4
De novo
Unknown
GEN657R017
missense_variant
c.4805A>G
p.Gln1602Arg
De novo
Simplex
GEN657R018
inframe_insertion
c.1891_1893dup
p.Ala631dup
De novo
Simplex
GEN657R019
frameshift_variant
c.1456_1459del
p.Glu486SerfsTer4
De novo
Multiplex
GEN657R020
missense_variant
c.355G>A
p.Ala119Thr
Unknown
Multiplex
GEN657R021
missense_variant
c.424G>A
p.Ala142Thr
De novo
GEN657R022
missense_variant
c.523G>T
p.Asp175Tyr
De novo
GEN657R023
missense_variant
c.879C>G
p.Ile293Met
De novo
GEN657R024
missense_variant
c.2599C>T
p.Arg867Cys
De novo
GEN657R025
missense_variant
c.2599C>T
p.Arg867Cys
De novo
GEN657R026
missense_variant
c.2612T>C
p.Leu871Pro
De novo
Simplex
GEN657R027
missense_variant
c.2565G>C
p.Gly855=
De novo
GEN657R028
missense_variant
c.2626C>T
p.Arg876Trp
De novo
GEN657R029
missense_variant
c.2626C>T
p.Arg876Trp
De novo
GEN657R030
missense_variant
c.3783G>A
p.Gly1261=
De novo
GEN657R031
missense_variant
c.4049G>A
p.Arg1350Gln
Unknown
Not maternal
GEN657R032
frameshift_variant
c.-26_-13del
Unknown
Multiplex
GEN657R033
frameshift_variant
c.1568dup
p.Asp523GlufsTer29
Unknown
GEN657R034
stop_gained
c.2228C>T
p.Ser743Leu
De novo
GEN657R035
missense_variant
c.703G>A
p.Val235Met
De novo
GEN657R036
missense_variant
c.823C>A
p.Leu275Ile
Unknown
GEN657R037
synonymous_variant
c.93C>T
p.Leu31%3D
De novo
Multiplex
GEN657R038
splice_site_variant
c.2726+1G>A
De novo
No Common Variants Available
14
Deletion-Duplication
11
14
Deletion-Duplication
4
Summary Statistics:
Show all nodes
Hide non-ASD
Interactor Symbol
Interactor Name
Interactor Organism
Entrez ID
Uniprot ID
Interaction Type
Evidence
Reference
C1ORF183
family with sequence similarity 212, member B
55924
Q9NTI7
IP; LC-MS/MS
Huttlin EL , et al. 2015
C9ORF150
Leucine rich adaptor protein 1-like
286343
Q8IV03
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
FAM167A
family with sequence similarity 167, member A
83648
Q96KS9
IP; LC-MS/MS
Huttlin EL , et al. 2015
GRPR
gastrin-releasing peptide receptor
2925
P30550
IP; LC-MS/MS
Huttlin EL , et al. 2015
PRKCZ
protein kinase C, zeta
5590
Q05513
IP; LC-MS/MS
Huttlin EL , et al. 2015
TOP3B
topoisomerase (DNA) III beta
8940
O95985
HITS-CLIP
Xu D , et al. 2013
UBXN2B
UBX domain protein 2B
137886
Q14CS0
IP; LC-MS/MS
Huttlin EL , et al. 2015
