Summary Statistics:
ASD Reports: 17
Recent Reports: 0
Annotated variants: 66
Associated CNVs: 10
Evidence score: 3
Gene Score: S
Relevance to Autism
Rare genetic variants involving TAF1 were identified in affected males from 11 families presenting with an X-linked syndrome characterized by developmental delay, intellectual disability, facial dysmorphic features, generalized hypotonia, and variable neurologic features (O'Rawe et al., 2015); ten of the fourteen probands with TAF1 variants in this report exhibited autistic behaviors.
Molecular Function
The protein encoded by this gene is the largest component and core scaffold of the TFIID basal transcription factor complex. It binds to core promoter sequences encompassing the transcription start site, as well as to activators and other transcriptional regulators, and these interactions affect the rate of transcription initiation. X-linked dystonia-parkinsonism (OMIM 314250) is caused by a retrotransposon insertion in an intron of TAF1 in the Filipino population.
References
Primary
TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations.
DD, ID
Autistic behaviors
Support
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
ASD, DD
ID
Support
X-linked syndromic intellectual developmental diso
ID
Support
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes
ID
Support
A novel variant in TAF1 affects gene expression and is associated with X-linked TAF1 intellectual disability syndrome
X-linked syndromic mental retardation-33
DD, ID, stereotypy
Support
Integrating de novo and inherited variants in 42
ASD
Support
A recurrent PJA1 variant in trigonocephaly and neurodevelopmental disorders
DD, epilepsy/seizures
Support
New Candidates for Autism/Intellectual Disability Identified by Whole-Exome Sequencing
DD, ID
Support
Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability
ID
Marfanoid habitus
Support
Genome sequencing of 320 Chinese children with epilepsy: a clinical and molecular study
ASD, DD, epilepsy/seizures
Support
Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicity.
X-linked syndromic mental retardation-33 (MRXS33)
Support
Diagnostic yield of whole-exome sequencing in non-syndromic intellectual disability
DD, ID
Epilepsy/seizures, autistic features
Support
TAF1, associated with intellectual disability in humans, is essential for embryogenesis and regulates neurodevelopmental processes in zebrafish.
ID
Support
Exploring the biological role of postzygotic and germinal de novo mutations in ASD
ASD
Support
ADHD, DD, ID
Learning disability, autistic features
Support
High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing.
ID
GEN792R001
missense_variant
c.4010T>C
p.Ile1337Thr
Familial
Maternal
Multiplex
GEN792R002
missense_variant
c.2419T>C
p.Cys807Arg
De novo
Simplex
GEN792R003
missense_variant
c.3736C>T
p.Arg1246Trp
De novo
Simplex
GEN792R004
missense_variant
c.1514T>A
p.Ile505Asn
De novo
Simplex
GEN792R005
splice_site_variant
c.3708A>G
p.Gln1236=
Familial
Maternal
Simplex
GEN792R006
missense_variant
c.4549A>C
p.Asn1517His
De novo
Simplex
GEN792R007
missense_variant
c.4355G>A
p.Arg1452His
De novo
Simplex
GEN792R008
missense_variant
c.1786C>T
p.Pro596Ser
Familial
Maternal
Multiplex
GEN792R009
missense_variant
c.2926G>C
p.Asp976His
De novo
Simplex
GEN792R010
copy_number_gain
Familial
Maternal
Extended multiplex
GEN792R011
copy_number_gain
De novo
Simplex
GEN792R012
missense_variant
c.1477A>G
p.Asn493Asp
Familial
Maternal
Multi-generational
GEN792R013
missense_variant
c.3568C>T
p.Arg1190Cys
Familial
Maternal
Multi-generational
GEN792R014
missense_variant
c.2926G>C
p.Asp976His
De novo
GEN792R015
missense_variant
c.3568C>T
p.Arg1190Cys
Familial
Maternal
Multi-generational
GEN792R016
missense_variant
c.613A>G
p.Ser205Gly
Familial
Maternal
GEN792R017
missense_variant
c.862C>T
p.Arg288Cys
Familial
Maternal
GEN792R018
missense_variant
c.952G>A
p.Ala318Thr
Familial
Maternal
GEN792R019
missense_variant
c.1297G>A
p.Asp433Asn
Familial
Maternal
GEN792R020
missense_variant
c.1580A>G
p.Asp527Gly
De novo
Simplex
GEN792R021
missense_variant
c.2039G>A
p.Gly680Asp
De novo
Unknown
GEN792R022
missense_variant
c.2180G>C
p.Arg727Pro
Familial
Maternal
Simplex
GEN792R023
missense_variant
c.2617T>G
p.Phe873Val
Familial
Maternal
Simplex
GEN792R024
missense_variant
c.2668C>T
p.Arg890Cys
De novo
Simplex
GEN792R025
missense_variant
c.2833G>A
p.Asp945Asn
Familial
Maternal
GEN792R026
missense_variant
c.2954C>T
p.Ser985Phe
De novo
Simplex
GEN792R027
missense_variant
c.3035C>T
p.Thr1012Ile
De novo
Simplex
GEN792R028
missense_variant
c.3568C>T
p.Arg1190Cys
De novo
Simplex
GEN792R029
missense_variant
c.3760C>T
p.Arg1254Trp
Familial
GEN792R030
missense_variant
c.4033G>A
p.Val1345Ile
De novo
Unknown
GEN792R031
missense_variant
c.4052T>A
p.Ile1351Asn
Familial
Maternal
Unknown
GEN792R032
missense_variant
c.4190G>A
p.Arg1397Gln
Familial
Maternal
Multiplex
GEN792R033
missense_variant
c.4442A>T
p.Asn1481Ile
De novo
Simplex
GEN792R034
missense_variant
c.4442A>G
p.Asn1481Ser
Familial
Maternal
Multiplex
GEN792R035
missense_variant
c.4454A>G
p.His1485Arg
De novo
GEN792R036
missense_variant
c.4580C>T
p.Ala1527Val
De novo
GEN792R037
missense_variant
c.4726A>G
p.Lys1576Glu
Familial
Maternal
GEN792R038
inframe_deletion
c.1251_1253del
p.Leu418del
Familial
Maternal
GEN792R039
missense_variant
c.1825A>G
p.Ile609Val
Familial
Maternal
GEN792R040
missense_variant
c.5370G>C
p.Glu1790Asp
Unknown
Multiplex
GEN792R041
missense_variant
c.5659A>T
p.Ser1887Cys
Familial
Maternal
GEN792R042
missense_variant
c.4130G>A
p.Arg1377Gln
Familial
Maternal
Multiplex
GEN792R043
missense_variant
c.2834A>T
p.Asp945Val
Familial
Maternal
Simplex
GEN792R044
missense_variant
c.4735A>G
p.Asn1579Asp
Familial
Maternal
Simplex
GEN792R045
frameshift_variant
c.29_53dup
p.Ala19AspfsTer50
Unknown
GEN792R046
frameshift_variant
c.29_53dup
p.Ala19AspfsTer50
Unknown
GEN792R047
initiator_codon_variant
c.2T>C
p.Met1?
Unknown
GEN792R048
missense_variant
c.482C>T
p.Pro161Leu
Unknown
GEN792R049
missense_variant
c.4196G>A
p.Arg1399His
Unknown
GEN792R050
missense_variant
c.454G>T
p.Asp152Tyr
Unknown
GEN792R051
missense_variant
c.2524C>T
p.Arg842Trp
Unknown
GEN792R052
missense_variant
c.4991C>A
p.Thr1664Lys
Unknown
GEN792R053
missense_variant
c.1156G>A
p.Gly386Ser
Unknown
GEN792R054
missense_variant
c.4196G>T
p.Arg1399Leu
Unknown
GEN792R055
missense_variant
c.4196G>T
p.Arg1399Leu
Unknown
GEN792R056
missense_variant
c.2933C>T
p.Thr978Met
Unknown
GEN792R057
splice_site_variant
c.180+2T>G
De novo
Simplex
GEN792R058
missense_variant
c.4603A>G
p.Lys1535Glu
Familial
Maternal
Multiplex
GEN792R059
missense_variant
c.281A>G
p.Asn94Ser
Unknown
GEN792R060
missense_variant
c.4151A>G
p.His1384Arg
De novo
Simplex
GEN792R061
missense_variant
c.1745G>A
p.Arg582Gln
De novo
GEN792R062
missense_variant
c.1962G>C
p.Glu654Asp
De novo
GEN792R063
missense_variant
c.2480G>A
p.Arg827Gln
De novo
GEN792R064
missense_variant
c.745G>A
p.Gly249Arg
Familial
Maternal
Multiplex
GEN792R065
missense_variant
c.4276A>G
p.Met1426Val
Familial
Maternal
Multiplex
GEN792R066
missense_variant
c.2590C>T
p.Arg864Trp
Familial
Maternal
Multiplex
No Common Variants Available
X
Deletion-Duplication
21
X
Deletion-Duplication
15
No Animal Model Data Available
Summary Statistics:
Total Interactions: 6
Total Publications: 4
Show all nodes
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Interactor Symbol
Interactor Name
Interactor Organism
Entrez ID
Uniprot ID
Interaction Type
Evidence
Reference
APC
adenomatous polyposis coli
324
P25054
Y2H
Bandyopadhyay S , et al. 2010
TAF2
TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa
6873
Q6P1X5
Cryo-electron microscopy
Louder RK , et al. 2016
TAF7
TAF7 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 55kDa
6879
Q15545
Cryo-electron microscopy
Louder RK , et al. 2016
TAF7L
Transcription initiation factor TFIID subunit 7-like
54457
Q5H9L4-2
IP; LC-MS/MS
Huttlin EL , et al. 2015
TAF8
TAF8 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 43kDa
129685
Q7Z7C8
IP; LC-MS/MS
Huttlin EL , et al. 2015
NBEA
neurobeachin
26422
Q9EPN1
Y2H
Tuand K , et al. 2016