Gene Report

Basic information

Related studies

Functional annotation

Related other genetic factors

Overlap with SZ and MDD

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Basic Info

Approved Symbol	DFNB31
Symbol Alias	CIP98, WHRN, USH2D, PDZD7B
Approved Name	deafness, autosomal recessive 31
Name Alias	whirlin
Location	9q32
Position	chr9:114402080-114505450, -1
External Links	HGNC: 16361 Entrez Gene: 25861 Ensembl: ENSG00000095397 UCSC: uc004biz.4
No. of Studies	3 (Positive: 2; Negative: 1; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	NO

Gene related studies (count: 3)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Moskvina, V.,2009		In BP:Smallest P-value per gene=0.0004, Product of P truncation <=0.01=0.00229, Product of P truncation <=0.001=0.0003. It showed evidence for association with BD.	Positive	Comment on Study
Ollila, H. M.,2009	SNP: rs10982256, rs942518	we could confirm findings for this association with BPI.	Positive	Comment on Study
Takata, A.,2011(a)	SNP: rs2274158, rs2274159, rs35003670, rs4978584, rs942518, rs942519	No significant association was observed.	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 13)

GO terms by PBA (count: 0)

GO terms by database search (count: 13)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0010628	positive regulation of gene expression	biological process	IEA	23
GO:0005515	protein binding	molecular function	IPI[17584769]	563
GO:0002142	stereocilia ankle link complex	cellular component	IEA	1
GO:0007605	sensory perception of sound	biological process	IMP[17171570]	18
GO:1990075	periciliary membrane compartment	cellular component	IEA	1
GO:0050953	sensory perception of light stimulus	biological process	IMP[17171570]	2
GO:0032420	stereocilium	cellular component	ISS	2
GO:0005737	cytoplasm	cellular component	IDA[16434480]	322
GO:0001895	retina homeostasis	biological process	IMP[17171570]	1
GO:0005884	actin filament	cellular component	IEA	9
GO:0030426	growth cone	cellular component	IEA	22
GO:0032391	photoreceptor connecting cilium	cellular component	IEA	3
GO:0060122	inner ear receptor stereocilium organization	biological process	ISS	2

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 5)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
DFNB31	MYO7A	NO	in vitro	15590698
DFNB31	LRP4	NO	yeast 2-hybrid	12421765
DFNB31	LRRC4C	YES	in vitro;yeast 2-hybrid	15590698
DFNB31	MYO15A	NO	in vitro;in vivo	15590698
DFNB31	CASK	NO	in vivo;yeast 2-hybrid	12641734

Related other genetic factors

Gene related SNPs (count: 67)

Literature-origin SNPs (count: 7)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs35003670	chr9:114424482 - 114424482(1)	missense_variant	1(0/1/0)
rs4978584	chr9:114424432 - 114424432(1)	missense_variant	1(0/1/0)
rs2274159	chr9:114403966 - 114403966(1)	missense_variant	1(0/1/0)
rs2274158	chr9:114403926 - 114403926(1)	missense_variant	1(0/1/0)
rs10982256	chr9:114498554 - 114498554(1)	downstream_gene_variant; intron_variant	3(1/0/2)
rs942519	chr9:114406753 - 114406753(1)	missense_variant	1(0/1/0)
rs942518	chr9:114510578 - 114510578(1)		3(0/3/0)

LD-proxies (count: 60)

rs_ID	Location	Functional Annotation
rs12002094	chr9:114428469 - 114428469(1)	intron_variant; upstream_gene_variant
rs2274163	chr9:114426434 - 114426434(1)	intron_variant; upstream_gene_variant
rs10982213	chr9:114426913 - 114426913(1)	intron_variant; upstream_gene_variant
rs10982212	chr9:114425696 - 114425696(1)	5_prime_UTR_variant; intron_variant
rs2274162	chr9:114425289 - 114425289(1)	5_prime_UTR_variant; intron_variant
rs4979386	chr9:114424312 - 114424312(1)	intron_variant
rs4979385	chr9:114424183 - 114424183(1)	intron_variant
rs2274161	chr9:114423747 - 114423747(1)	intron_variant
rs10739412	chr9:114420886 - 114420886(1)	intron_variant
rs10739411	chr9:114420869 - 114420869(1)	intron_variant
rs10081697	chr9:114420325 - 114420325(1)	intron_variant
rs10759692	chr9:114398775 - 114398775(1)	downstream_gene_variant; upstream_gene_variant
rs4979377	chr9:114397090 - 114397090(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs10733609	chr9:114405991 - 114405991(1)	intron_variant
rs10759695	chr9:114405664 - 114405664(1)	intron_variant
rs4979380	chr9:114404979 - 114404979(1)	intron_variant
rs10759693	chr9:114399973 - 114399973(1)	downstream_gene_variant; upstream_gene_variant
rs10982200	chr9:114406271 - 114406271(1)	intron_variant
rs10759697	chr9:114410027 - 114410027(1)	intron_variant
rs10119353	chr9:114412970 - 114412970(1)	intron_variant
rs717916	chr9:114414026 - 114414026(1)	intron_variant
rs10817602	chr9:114398641 - 114398641(1)	downstream_gene_variant; upstream_gene_variant
rs7038862	chr9:114401032 - 114401032(1)	downstream_gene_variant; upstream_gene_variant
rs4979378	chr9:114400768 - 114400768(1)	downstream_gene_variant; upstream_gene_variant
rs4979379	chr9:114404912 - 114404912(1)	intron_variant
rs10759694	chr9:114401726 - 114401726(1)	downstream_gene_variant; upstream_gene_variant
rs10982203	chr9:114408929 - 114408929(1)	intron_variant
rs10982201	chr9:114407655 - 114407655(1)	intron_variant
rs731421	chr9:114414669 - 114414669(1)	intron_variant
rs10759698	chr9:114412501 - 114412501(1)	intron_variant
rs3748174	chr9:114417728 - 114417728(1)	intron_variant
rs10817607	chr9:114416942 - 114416942(1)	intron_variant
rs7861409	chr9:114418910 - 114418910(1)	intron_variant
rs10759699	chr9:114418213 - 114418213(1)	intron_variant
rs7849013	chr9:114419150 - 114419150(1)	intron_variant
rs7875262	chr9:114418957 - 114418957(1)	intron_variant
rs4979383	chr9:114419809 - 114419809(1)	intron_variant
rs7864759	chr9:114419325 - 114419325(1)	intron_variant
rs1535966	chr9:114412088 - 114412088(1)	intron_variant
rs10982246	chr9:114488113 - 114488113(1)	intron_variant; upstream_gene_variant
rs2236388	chr9:114407020 - 114407020(1)	intron_variant
rs11789406	chr9:114483908 - 114483908(1)	intron_variant
rs6478077	chr9:114400059 - 114400059(1)	downstream_gene_variant; upstream_gene_variant
rs11787667	chr9:114480565 - 114480565(1)	intron_variant
rs10817622	chr9:114480295 - 114480295(1)	intron_variant
rs1535962	chr9:114496782 - 114496782(1)	intron_variant
rs10817627	chr9:114494929 - 114494929(1)	downstream_gene_variant; intron_variant
rs10982255	chr9:114493464 - 114493464(1)	downstream_gene_variant; intron_variant
rs10759710	chr9:114490318 - 114490318(1)	intron_variant; upstream_gene_variant
rs4979414	chr9:114497905 - 114497905(1)	intron_variant
rs4979416	chr9:114500597 - 114500597(1)	downstream_gene_variant; intron_variant
rs10817625	chr9:114485307 - 114485307(1)	intron_variant
rs4979415	chr9:114499319 - 114499319(1)	downstream_gene_variant; intron_variant
rs1535960	chr9:114489072 - 114489072(1)	intron_variant; upstream_gene_variant
rs1535963	chr9:114509937 - 114509937(1)	upstream_gene_variant
rs7034891	chr9:114482972 - 114482972(1)	intron_variant
rs1408524	chr9:114508793 - 114508793(1)	upstream_gene_variant
rs10817626	chr9:114492261 - 114492261(1)	downstream_gene_variant; intron_variant
rs12551529	chr9:114494616 - 114494616(1)	downstream_gene_variant; intron_variant
rs2296261	chr9:114503311 - 114503311(1)	downstream_gene_variant; intron_variant; upstream_gene_variant

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 3)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
9q21-32	chr9:65000000-114900000	1 (0/1/0)
Chr 9	chr9:0-138394717	3 (0/3/0)
9q32-q33	chr9:112100000-127500000	1 (0/0/1)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)

Gene relationship with SZ

Overlap with SZ from cross-disorder studies (count: 1)

Reference	Description	Result Category
19065143	It showed no evidence for association with SZ.	Negative

Overlap with SZ from candidate gene intersection analysis (count: 0)

Gene relationship with MDD

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Region: chr9:114402080..114505450 View in gBrowse