Summary Statistics:
Gene Score: 4S
Relevance to Autism
De novo missense variants in the TRAF7 gene were identified in ASD probands in two studies (Neale et al., 2012; Krumm et al., 2015). De novo missense variants in this gene were observed in seven unrelated individuals presenting with development delay, congenital anomalies, and dysmorphic features; one of these individuals also presented with severe autism (Tokita et al., 2018). The p.Arg655Gln missense variant, which was observed in the ASD proband from Krumm et al., 2015 and four individuals from Tokita et al., 2018, was experimentally shown to significantly reduce ERK1/2 phosphorylation.
Molecular Function
Tumor necrosis factor (TNF; see MIM 191160) receptor-associated factors, such as TRAF7, are signal transducers for members of the TNF receptor superfamily. This gene encodes a E3 ubiquitin ligase capable of auto-ubiquitination, following phosphorylation by MAP3K3, and potentiates MEKK3-mediated activation of the NF-kappa-B, JUN/AP1 and DDIT3 transcriptional regulators.
References
Primary
Patterns and rates of exonic de novo mutations in autism spectrum disorders.
ASD
Support
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
ASD, DD
Support
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism
ASD
Support
Variantrecurrence in neurodevelopmental disorders: the use of publicly available genomic data identifies clinically relevant pathogenic missense v...
DD
Support
Excess of rare, inherited truncating mutations in autism.
ASD
Support
Integrating de novo and inherited variants in 42
ASD
Recent Recommendation
Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7
Cardiac, facial, and digital anomalies with develo
ASD
Recent Recommendation
De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features.
DD
Epilepsy/seizures, ASD
GEN1022R001
missense_variant
c.1777C>T
p.Arg593Trp
De novo
Not simplex (positive family history)
GEN1022R002
missense_variant
c.1964G>A
p.Arg655Gln
De novo
Simplex
GEN1022R003
missense_variant
c.1964G>A
p.Arg655Gln
De novo
Multiplex
GEN1022R004
missense_variant
c.1964G>A
p.Arg655Gln
De novo
GEN1022R005
missense_variant
c.1964G>A
p.Arg655Gln
De novo
GEN1022R006
missense_variant
c.1964G>A
p.Arg655Gln
Unknown
Not maternal
Unknown
GEN1022R007
missense_variant
c.1801A>G
p.Thr601Ala
De novo
GEN1022R008
missense_variant
c.1036A>G
p.Lys346Glu
De novo
Multiplex
GEN1022R009
missense_variant
c.1111C>G
p.Arg371Gly
De novo
GEN1022R010
missense_variant
c.1964G>A
p.Arg655Gln
De novo
GEN1022R011
missense_variant
c.565C>T
p.Arg189Trp
De novo
Simplex
GEN1022R012
intron_variant
c.1135+22_1135+23insCCCCCCCC
De novo
Simplex
GEN1022R013
intron_variant
c.1135+34_1135+35insCCCCCCCCCGG
De novo
Simplex
GEN1022R014
intron_variant
c.348+11G>A
De novo
Simplex
GEN1022R015
intron_variant
c.1136-36_1136-35insCCCCC
De novo
Simplex
GEN1022R016
missense_variant
c.981C>A
p.Asp327Glu
Unknown
Not maternal
GEN1022R017
missense_variant
c.1089C>A
p.Asp363Glu
Unknown
Not maternal
GEN1022R018
missense_variant
c.1097C>T
p.Ser366Phe
De novo
GEN1022R019
missense_variant
c.1109C>T
p.Ala370Val
Unknown
Not maternal
GEN1022R020
missense_variant
c.1148A>C
p.Gln383Pro
De novo
GEN1022R021
missense_variant
c.1204C>G
p.Leu402Val
De novo
GEN1022R022
missense_variant
c.1204C>G
p.Leu402Val
De novo
GEN1022R023
missense_variant
c.1211T>A
p.Val404Asp
De novo
GEN1022R024
missense_variant
c.1223G>A
p.Gly408Asp
De novo
GEN1022R025
missense_variant
c.1223G>A
p.Gly408Asp
De novo
GEN1022R026
missense_variant
c.1328T>G
p.Leu443Arg
De novo
GEN1022R027
missense_variant
c.1494G>T
p.Lys498Asn
De novo
GEN1022R028
missense_variant
c.1555C>T
p.Leu519Phe
De novo
GEN1022R029
missense_variant
c.1555C>T
p.Leu519Phe
De novo
GEN1022R030
missense_variant
c.1570C>T
p.Arg524Trp
De novo
GEN1022R031
missense_variant
c.1570C>T
p.Arg524Trp
De novo
GEN1022R032
missense_variant
c.1570C>T
p.Arg524Trp
De novo
GEN1022R033
missense_variant
c.1570C>T
p.Arg524Trp
Familial
Maternal
GEN1022R034
missense_variant
c.1673C>T
p.Ser558Phe
De novo
GEN1022R035
missense_variant
c.1673C>T
p.Ser558Phe
De novo
GEN1022R036
missense_variant
c.1673C>A
p.Ser558Tyr
De novo
GEN1022R037
missense_variant
c.1708C>G
p.His570Asp
De novo
GEN1022R038
missense_variant
c.1708C>G
p.His570Asp
De novo
GEN1022R039
missense_variant
c.1851C>G
p.Phe617Leu
Familial
Maternal
Multiplex
GEN1022R040
missense_variant
c.1849T>C
p.Phe617Leu
De novo
GEN1022R041
missense_variant
c.1850T>C
p.Phe617Ser
De novo
GEN1022R042
missense_variant
c.1873C>G
p.Leu625Val
De novo
GEN1022R043
missense_variant
c.1885A>C
p.Ser629Arg
Unknown
Not maternal
GEN1022R044
missense_variant
c.1936G>C
p.Val646Leu
De novo
GEN1022R045
missense_variant
c.1964G>A
p.Arg655Gln
De novo
GEN1022R046
missense_variant
c.1964G>A
p.Arg655Gln
De novo
GEN1022R047
missense_variant
c.1964G>A
p.Arg655Gln
De novo
GEN1022R048
missense_variant
c.1964G>A
p.Arg655Gln
De novo
GEN1022R049
missense_variant
c.1964G>A
p.Arg655Gln
De novo
GEN1022R050
missense_variant
c.1964G>A
p.Arg655Gln
De novo
GEN1022R051
missense_variant
c.1964G>A
p.Arg655Gln
De novo
GEN1022R052
missense_variant
c.1964G>A
p.Arg655Gln
De novo
GEN1022R053
missense_variant
c.1964G>A
p.Arg655Gln
De novo
GEN1022R054
missense_variant
c.1964G>A
p.Arg655Gln
De novo
GEN1022R055
missense_variant
c.1964G>A
p.Arg655Gln
Unknown
GEN1022R056
missense_variant
c.1964G>A
p.Arg655Gln
De novo
GEN1022R057
missense_variant
c.1964G>A
p.Arg655Gln
De novo
GEN1022R058
missense_variant
c.1975G>T
p.Gly659Trp
De novo
GEN1022R059
missense_variant
c.1864G>A
p.Asp622Asn
De novo
GEN1022R060
stop_gained
c.2010C>A
p.Cys670Ter
Unknown
GEN1022R061
missense_variant
c.1546C>T
p.Leu516Phe
Unknown
GEN1022R062
frameshift_variant
c.1790del
p.Gly597AlafsTer37
Unknown
GEN1022R063
missense_variant
c.95C>T
p.Thr32Met
Unknown
GEN1022R064
missense_variant
c.22C>T
p.Arg8Cys
Unknown
GEN1022R065
missense_variant
c.1570C>T
p.Arg524Trp
Unknown
GEN1022R066
synonymous_variant
c.210G>A
p.Pro70%3D
De novo
GEN1022R067
missense_variant
c.1873C>G
p.Leu625Val
De novo
GEN1022R068
missense_variant
c.1804G>A
p.Val602Met
De novo
No Common Variants Available
16
Deletion-Duplication
68
16
Deletion-Duplication
2
No Interactions Available
