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Relevance to Autism

This gene was identified as an ASD candidate gene following the identification of a balanced chromosomal abnormality (BCA) leading to gene disruption in an ASD case (Talkowski et al., 2012). This BCA-disrupted gene was also individually implicated by case-control CNV burden or by a minimum of 3 CNVs in neuodevelopmental disorder (NDD) cases with none in controls in a follow-up study in the same report.

Molecular Function

May be involved in tissue-specific alternative RNA processing events.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries.
ASD
Support
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.
DD, epilepsy/seizures
Support
Deletion of SNURF/SNRPN U1B and U1B* upstream exons in a child with developmental delay and excessive weight.
DD, ID
Recent Recommendation
The autism-related gene SNRPN regulates cortical and spine development via controlling nuclear receptor Nr4a1.
Recent Recommendation
Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA
ASD

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN343R001 
 translocation 
  
  
 De novo 
 NA 
  
 GEN343R002 
 copy_number_loss 
  
  
 Familial 
 Paternal 
 Simplex 
 GEN343R003 
 copy_number_loss 
  
  
 Familial 
 Paternal 
 Simplex 
 GEN343R004 
 translocation 
  
  
 De novo 
 NA 
  
 GEN343R005 
 translocation 
  
  
 Unknown 
  
  
 GEN343R006 
 translocation 
  
  
 Unknown 
  
  

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
15
Duplication
 10
  construct
15
Duplication
 1
 
15
Duplication
 3
 
15
Duplication
 7
 
15
Duplication
 2
 
15
Duplication
 2
 
15
Deletion
 1
 
15
Deletion-Duplication
 98
 
15
Duplication
 7
 
15
Duplication
 66
  construct
15
Duplication
 5
 
15
Duplication
 14
 
15
Duplication
 3
 

No Animal Model Data Available


Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
A2BP1 RNA binding protein, fox-1 homolog (C. elegans) 1 54715 Q59HD3 Y2H
Corominas R , et al. 2014
AKAP7 A kinase (PRKA) anchor protein 7 9465 O43687 IP; LC-MS/MS
Huttlin EL , et al. 2015
AQR aquarius homolog (mouse) 9716 O60306 IP; LC-MS/MS
Huttlin EL , et al. 2015
ARL4D ADP-ribosylation factor-like 4D 379 P49703 Y2H
Stelzl U , et al. 2005
BUD31 BUD31 homolog (S. cerevisiae) 8896 P41223 IP; LC-MS/MS
Huttlin EL , et al. 2015
C17ORF79 coordinator of PRMT5, differentiation stimulator 55352 Q9NQ92 IP; LC-MS/MS
Huttlin EL , et al. 2015
CCDC12 coiled-coil domain containing 12 151903 J3KR35 IP; LC-MS/MS
Huttlin EL , et al. 2015
CCDC75 G patch domain containing 11 253635 Q8N954 IP; LC-MS/MS
Huttlin EL , et al. 2015
CD2BP2 CD2 (cytoplasmic tail) binding protein 2 10421 O95400 IP; LC-MS/MS
Huttlin EL , et al. 2015
CDC40 cell division cycle 40 51362 O60508 IP; LC-MS/MS
Huttlin EL , et al. 2015
CLNS1A chloride channel, nucleotide-sensitive, 1A 1207 P54105 IP; LC-MS/MS
Huttlin EL , et al. 2015
COIL coilin 8161 P38432 GST
Velma V , et al. 2010
COIL coilin 8161 P38432 IP; LC-MS/MS
Huttlin EL , et al. 2015
CRNKL1 crooked neck pre-mRNA splicing factor-like 1 (Drosophila) 51340 Q9BZJ0 IP; LC-MS/MS
Huttlin EL , et al. 2015
CRTAP cartilage associated protein 10491 O75718 IP; LC-MS/MS
Huttlin EL , et al. 2015
CSTF1 cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa 1477 Q05048 IP; LC-MS/MS
Huttlin EL , et al. 2015
CTBP1 C-terminal binding protein 1 1487 Q13363 Y2H
Corominas R , et al. 2014
DDX20 DEAD (Asp-Glu-Ala-Asp) box polypeptide 20 11218 Q9H4N4 IP; MS; GST
Charroux B , et al. 1999
DDX23 DEAD (Asp-Glu-Ala-Asp) box polypeptide 23 9416 Q9BUQ8 IP; LC-MS/MS
Huttlin EL , et al. 2015
DGCR14 DiGeorge syndrome critical region gene 14 8220 Q96DF8 IP; LC-MS/MS
Huttlin EL , et al. 2015
DHX35 DEAH (Asp-Glu-Ala-His) box polypeptide 35 60625 F5GXM6 IP; LC-MS/MS
Huttlin EL , et al. 2015
DPP8 dipeptidyl-peptidase 8 54878 Q6V1X1 IP; LC-MS/MS
Huttlin EL , et al. 2015
EAPP E2F-associated phosphoprotein 55837 Q56P03 IP; LC-MS/MS
Huttlin EL , et al. 2015
EFTUD2 elongation factor Tu GTP binding domain containing 2 9343 B3KX19 IP; LC-MS/MS
Huttlin EL , et al. 2015
EPB41L3 erythrocyte membrane protein band 4.1-like 3 23136 Q9Y2J2 IP; LC-MS/MS
Huttlin EL , et al. 2015
FARP1 FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) 10160 Q9Y4F1 IP; LC-MS/MS
Huttlin EL , et al. 2015
FBL fibrillarin 2091 P22087 GST
Whitehead SE , et al. 2002
FTSJD1 FtsJ methyltransferase domain containing 1 55783 Q8IYT2 IP; LC-MS/MS
Huttlin EL , et al. 2015
GAR1 GAR1 ribonucleoprotein homolog (yeast) 54433 Q9NY12 GST
Whitehead SE , et al. 2002
GCFC1 PAX3 and PAX7 binding protein 1 94104 Q8N6E6 IP; LC-MS/MS
Huttlin EL , et al. 2015
GEMIN2 gem (nuclear organelle) associated protein 2 8487 O14893 Y2H; GST; IP/WB
Liu Q , et al. 1997
GEMIN4 gem (nuclear organelle) associated protein 4 50628 P57678 Protein transfer assay
Chari A , et al. 2008
GEMIN5 gem (nuclear organelle) associated protein 5 25929 B7ZLC9 IP/WB; GST
Gubitz AK , et al. 2001
GEMIN5 gem (nuclear organelle) associated protein 5 25929 B7ZLC9 IP; LC-MS/MS
Huttlin EL , et al. 2015
GEMIN6 gem (nuclear organelle) associated protein 6 79833 Q8WXD5 Protein transfer assay
Chari A , et al. 2008
GEMIN7 gem (nuclear organelle) associated protein 7 79760 Q9H840 Protein transfer assay
Chari A , et al. 2008
GEMIN8 gem (nuclear organelle) associated protein 8 54960 Q9NWZ8 Protein transfer assay
Chari A , et al. 2008
GEMIN8 gem (nuclear organelle) associated protein 8 54960 Q9NWZ8 IP; LC-MS/MS
Huttlin EL , et al. 2015
GPATCH1 G patch domain containing 1 55094 Q9BRR8 IP; LC-MS/MS
Huttlin EL , et al. 2015
GTF2I general transcription factor IIi 2969 P78347 IP/WB
Voss PG , et al. 2008
HCFC1 host cell factor C1 (VP16-accessory protein) 3054 P51610 IP/WB
Ajuh P , et al. 2002
HTATSF1 HIV-1 Tat specific factor 1 27336 O43719 IP; LC-MS/MS
Huttlin EL , et al. 2015
ISY1 ISY1 splicing factor homolog (S. cerevisiae) 57461 Q9ULR0 IP; LC-MS/MS
Huttlin EL , et al. 2015
KPNB1 karyopherin (importin) beta 1 3837 Q14974 IP/WB; GST
Narayanan U , et al. 2002
LRIF1 ligand dependent nuclear receptor interacting factor 1 55791 Q5T3J3 Y2H
Stelzl U , et al. 2005
LSM11 LSM11, U7 small nuclear RNA associated 134353 P83369 IP; LC-MS/MS
Huttlin EL , et al. 2015
LSM2 LSM2 homolog, U6 small nuclear RNA associated (S. cerevisiae) 57819 Q9Y333 IP; LC-MS/MS
Huttlin EL , et al. 2015
LSM4 LSM4 homolog, U6 small nuclear RNA associated (S. cerevisiae) 25804 Q9Y4Z0 IP; LC-MS/MS
Huttlin EL , et al. 2015
LSM6 LSM6 homolog, U6 small nuclear RNA associated (S. cerevisiae) 11157 P62312 IP; LC-MS/MS
Huttlin EL , et al. 2015
MAGEL2 MAGE-like 2 54551 Q9UJ55 in vitro methylation assay; Chromatin conformation capture
Rabinovitz S , et al. 2012
MEPCE methylphosphate capping enzyme 56257 Q7L2J0 AP-MS
Jeronimo C , et al. 2007
MEPCE methylphosphate capping enzyme 56257 Q7L2J0 IP; LC-MS/MS
Huttlin EL , et al. 2015
MKRN3 makorin ring finger protein 3 7681 Q13064 in vitro methylation assay; Chromatin conformation capture
Rabinovitz S , et al. 2012
NAA38 N(alpha)-acetyltransferase 38, NatC auxiliary subunit 51691 A4D0W0 IP; LC-MS/MS
Huttlin EL , et al. 2015
NDN necdin homolog (mouse) 4692 Q99608 in vitro methylation assay; Chromatin conformation capture
Rabinovitz S , et al. 2012
NHP2L1 NHP2 non-histone chromosome protein 2-like 1 (S. cerevisiae) 4809 P55769 IP; LC-MS/MS
Huttlin EL , et al. 2015
NOL7 nucleolar protein 7, 27kDa 51406 Q9UMY1 IP; LC-MS/MS
Huttlin EL , et al. 2015
PDCD7 programmed cell death 7 10081 Q6IEG3 IP; LC-MS/MS
Huttlin EL , et al. 2015
PRKRIP1 PRKR interacting protein 1 (IL11 inducible) 79706 Q9H875 IP; LC-MS/MS
Huttlin EL , et al. 2015
PRMT5 protein arginine methyltransferase 5 10419 O14744 IP; LC-MS/MS
Huttlin EL , et al. 2015
PRPF3 PRP3 pre-mRNA processing factor 3 homolog (S. cerevisiae) 9129 O43395 IP; LC-MS/MS
Huttlin EL , et al. 2015
PRPF31 PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae) 26121 F1T0A5 IP; LC-MS/MS
Huttlin EL , et al. 2015
PRPF4 PRP4 pre-mRNA processing factor 4 homolog (yeast) 9128 O43172 IP; LC-MS/MS
Huttlin EL , et al. 2015
PRPF6 PRP6 pre-mRNA processing factor 6 homolog (S. cerevisiae) 24148 O94906 IP; LC-MS/MS
Huttlin EL , et al. 2015
PRPF8 PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae) 10594 Q6P2Q9 IP; LC-MS/MS
Huttlin EL , et al. 2015
PTEN phosphatase and tensin homolog 5728 F6KD01 LUMIER with BACON
Shnitsar I , et al. 2015
RBFOX1 RNA binding protein, fox-1 homolog (C. elegans) 1 54715 Q9NWB1 qRT-PCR; IP/WB; in situ hybridization; in silico target prediction
Fogel BL , et al. 2012
RBM42 RNA binding motif protein 42 79171 Q9BTD8 IP; LC-MS/MS
Huttlin EL , et al. 2015
RIOK1 RIO kinase 1 83732 Q9BRS2 IP; LC-MS/MS
Huttlin EL , et al. 2015
RNPC3 RNA-binding region (RNP1, RRM) containing 3 55599 Q96LT9 IP; LC-MS/MS
Huttlin EL , et al. 2015
SART3 squamous cell carcinoma antigen recognized by T cells 3 9733 Q15020 IP; LC-MS/MS
Huttlin EL , et al. 2015
SF3A1 splicing factor 3a, subunit 1, 120kDa 10291 E9PAW1 IP; LC-MS/MS
Huttlin EL , et al. 2015
SF3A2 splicing factor 3a, subunit 2, 66kDa 8175 Q05DF2 IP; LC-MS/MS
Huttlin EL , et al. 2015
SF3A3 splicing factor 3a, subunit 3, 60kDa 10946 B3KY12 IP; LC-MS/MS
Huttlin EL , et al. 2015
SF3B1 splicing factor 3b, subunit 1, 155kDa 23451 A0JLT9 IP; LC-MS/MS
Huttlin EL , et al. 2015
SF3B2 splicing factor 3b, subunit 2, 145kDa 10992 Q13435 IP; LC-MS/MS
Huttlin EL , et al. 2015
SF3B4 splicing factor 3b, subunit 4, 49kDa 10262 B3KUJ0 IP; LC-MS/MS
Huttlin EL , et al. 2015
SF3B5 splicing factor 3b, subunit 5, 10kDa 83443 Q9BWJ5 IP; LC-MS/MS
Huttlin EL , et al. 2015
SH3GL3 SH3-domain GRB2-like 3 6457 Q99963 Y2H
Stelzl U , et al. 2005
SHANK3 SH3 and multiple ankyrin repeat domains 3 85358 Q9BYB0 Y2H
Sakai Y , et al. 2011
SIP1 gem (nuclear organelle) associated protein 2 NM_001009183 O14893 IP; LC-MS/MS
Huttlin EL , et al. 2015
SKAP2 src kinase associated phosphoprotein 2 8935 O75563 IP; LC-MS/MS
Huttlin EL , et al. 2015
SLC4A1AP solute carrier family 4 (anion exchanger), member 1, adaptor protein 22950 Q9BWU0 IP; LC-MS/MS
Huttlin EL , et al. 2015
SNRNP200 small nuclear ribonucleoprotein 200kDa (U5) 23020 O75643 IP; LC-MS/MS
Huttlin EL , et al. 2015
SNRNP27 small nuclear ribonucleoprotein 27kDa (U4/U6.U5) 11017 A8K513 IP; LC-MS/MS
Huttlin EL , et al. 2015
SNRNP35 U11/U12 small nuclear ribonucleoprotein 35 kDa protein 11066 Q16560-2 IP; LC-MS/MS
Huttlin EL , et al. 2015
SNRNP48 small nuclear ribonucleoprotein 48kDa (U11/U12) 154007 Q6IEG0 IP; LC-MS/MS
Huttlin EL , et al. 2015
SNRNP70 small nuclear ribonucleoprotein 70kDa (U1) 6625 P08621 IP; LC-MS/MS
Huttlin EL , et al. 2015
SNRPA small nuclear ribonucleoprotein polypeptide A 6626 P09012 IP; LC-MS/MS
Huttlin EL , et al. 2015
SNRPA1 small nuclear ribonucleoprotein polypeptide A' 6627 P09661 IP; LC-MS/MS
Huttlin EL , et al. 2015
SNRPB small nuclear ribonucleoprotein polypeptides B and B1 6628 P14678 GST
Liu Q , et al. 1997
SNRPB2 small nuclear ribonucleoprotein polypeptide B 6629 P08579 IP; LC-MS/MS
Huttlin EL , et al. 2015
SNRPC small nuclear ribonucleoprotein polypeptide C 6631 P09234 IP; LC-MS/MS
Huttlin EL , et al. 2015
SNRPD1 small nuclear ribonucleoprotein D1 polypeptide 16kDa 6632 P62314 IP; LC-MS/MS
Huttlin EL , et al. 2015
SNRPD1 small nuclear ribonucleoprotein D1 polypeptide 16kDa 6632 P62314 GST
Liu Q , et al. 1997
SNRPD2 small nuclear ribonucleoprotein D2 polypeptide 16.5kDa 6633 P62316 IP; LC-MS/MS
Huttlin EL , et al. 2015
SNRPD2 small nuclear ribonucleoprotein D2 polypeptide 16.5kDa 6633 P62316 GST
Liu Q , et al. 1997
SNRPD3 small nuclear ribonucleoprotein D3 polypeptide 18kDa 6634 P62318 IP; LC-MS/MS
Huttlin EL , et al. 2015
SNRPD3 small nuclear ribonucleoprotein D3 polypeptide 18kDa 6634 P62318 Y2H
Fury MG , et al. 1998
SNRPE small nuclear ribonucleoprotein polypeptide E 6635 P62304 IP; LC-MS/MS
Huttlin EL , et al. 2015
SNRPE small nuclear ribonucleoprotein polypeptide E 6635 P62304 GST
Liu Q , et al. 1997
SNRPF small nuclear ribonucleoprotein polypeptide F 6636 P62306 IP; LC-MS/MS
Huttlin EL , et al. 2015
SNRPG small nuclear ribonucleoprotein polypeptide G 6637 P62308 IP; LC-MS/MS
Huttlin EL , et al. 2015
SNUPN snurportin 1 10073 O95149 IP; LC-MS/MS
Huttlin EL , et al. 2015
SPN sialophorin 6693 A8K9B1 GST
Narayanan U , et al. 2002
STRAP serine/threonine kinase receptor associated protein 11171 Q9Y3F4 IP; MS
Yong J , et al. 2010
SYF2 SYF2 homolog, RNA splicing factor (S. cerevisiae) 25949 O95926 IP; LC-MS/MS
Huttlin EL , et al. 2015
TFIP11 tuftelin interacting protein 11 24144 Q9UBB9 IP; LC-MS/MS
Huttlin EL , et al. 2015
TGS1 trimethylguanosine synthase 1 96764 Q96RS0 GST
Mouaikel J , et al. 2003
TGS1 trimethylguanosine synthase 1 96764 Q96RS0 IP; LC-MS/MS
Huttlin EL , et al. 2015
TOE1 target of EGR1, member 1 (nuclear) 114034 Q96GM8 IP; LC-MS/MS
Huttlin EL , et al. 2015
TP53 tumor protein p53 7157 P04637 Y2H
Stelzl U , et al. 2005
TRA2A transformer 2 alpha homolog (Drosophila) 29896 Q13595 IP; LC-MS/MS
Huttlin EL , et al. 2015
TSSC4 tumor suppressing subtransferable candidate 4 10078 Q9Y5U2 IP; LC-MS/MS
Huttlin EL , et al. 2015
TUT1 terminal uridylyl transferase 1, U6 snRNA-specific 64852 F5H0R1 IP; LC-MS/MS
Huttlin EL , et al. 2015
TXNL4A thioredoxin-like 4A 10907 P83876 IP; LC-MS/MS
Huttlin EL , et al. 2015
UBC ubiquitin C 7316 P63279 IP/WB
Kim W , et al. 2011
WBP4 WW domain binding protein 4 11193 O75554 IP; LC-MS/MS
Huttlin EL , et al. 2015
WDR77 WD repeat domain 77 79084 Q9BQA1 IP; LC-MS/MS
Huttlin EL , et al. 2015
WDR83 WD repeat domain 83 84292 Q9BRX9 IP; LC-MS/MS
Huttlin EL , et al. 2015
XAB2 XPA binding protein 2 56949 Q9HCS7 IP; LC-MS/MS
Huttlin EL , et al. 2015
YWHAZ tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta polypeptide 7534 P63104 IP; MS
Wilker EW , et al. 2007
ZMAT5 zinc finger, matrin-type 5 55954 Q9UDW3 IP; LC-MS/MS
Huttlin EL , et al. 2015
ZRSR2 zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2 NM_005089 Q15696 IP; LC-MS/MS
Huttlin EL , et al. 2015
ARX aristaless related homeobox 11878 O35085 ChIP-qPCR
Quill ML , et al. 2011
MECP2 methyl CpG binding protein 2 (Rett syndrome) 4204 P51608 ChIP
Samaco RC , et al. 2004

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