Summary ?
GeneID1690
SymbolCOCH
SynonymsCOCH-5B2|COCH5B2|DFNA9
Descriptioncochlin
ReferenceMIM:603196|HGNC:HGNC:2180|Ensembl:ENSG00000100473|HPRD:04431|Vega:OTTHUMG00000029432
Gene typeprotein-coding
Map location14q11.2-q13
Pascal p-value0.837
DEG p-valueDEG:Sanders_2014:DS1_p=-0.148:DS1_beta=0.039400:DS2_p=1.09e-02:DS2_beta=-0.128:DS2_FDR=7.78e-02
eGeneFrontal Cortex BA9
Myers' cis & trans
Meta

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:PGCnpGenome-wide Association StudyGWAS
DEG:Sanders_2013MicroarrayWhole-genome gene expression profiles using microarrays on lymphoblastoid cell lines (LCLs) from 413 cases and 446 controls.
GSMA_IGenome scan meta-analysisPsr: 0.047 

Section I. Genetics and epigenetics annotation

@eQTL annotation

SNP IDChromosomePositioneGeneGene Entrez IDpvalueqvalueTSS distanceeQTL type
rs596985chr164277034COCH16900trans
rs17131472chr191962966COCH16900.07trans
rs6693444chr198690213COCH16900trans
rs16838771chr1157511227COCH16900.02trans
rs3770675chr239480214COCH16900.1trans
rs10865148chr239488831COCH16900.04trans
rs2302749chr239494196COCH16900.04trans
rs10865150chr239529875COCH16900.16trans
rs6712274chr239627454COCH16900.14trans
rs16823058chr2170317903COCH16900.02trans
rs12466062chr2188137037COCH16900.1trans
rs17044102chr317889838COCH16900.19trans
rs6793457chr362053678COCH16900.02trans
rs10937395chr3189336369COCH16900.19trans
rs491989chr531452998COCH16900.02trans
rs6893045chr531473728COCH16900.15trans
rs620498chr5133869269COCH16900.07trans
rs17101786chr5143702446COCH16900.04trans
rs10055809chr5143766245COCH16900.02trans
rs283063chr6118621313COCH16904.68E-5trans
rs283058chr6118625224COCH16900.15trans
rs1411442chr972210550COCH16900.08trans
rs1411441chr972210608COCH16900.07trans
rs17143455chr108368252COCH16900trans
rs7081986chr1090807242COCH16900.04trans
rs7969972chr1215763898COCH16900.12trans
rs4644683chr1215780762COCH16900.1trans
rs4764219chr1215812187COCH16900.01trans
rs7295589chr1215816182COCH16900.1trans
rs16945668chr12115934729COCH16900.19trans
rs10047895chr1457512171COCH16900.15trans
rs1953844chr1482453917COCH16900.1trans
rs7177212chr1534425413COCH16900.02trans
rs284907chr1576741568COCH16900.13trans
rs284898chr1576750694COCH16900.06trans
rs16959711chr1656597605COCH16900.1trans
rs8056861chr1656921039COCH16900.08trans
rs443222chr1683889679COCH16900.15trans
rs824575chr1683891459COCH16900.15trans
rs7503018chr1737931219COCH16900.18trans
rs11873703chr1861448702COCH16900.03trans
rs1883665chrX17650382COCH16903.018E-8trans
rs7062071chrX17724830COCH16909.796E-5trans

Section II. Transcriptome annotation

General gene expression (GTEx)

Not available

Gene expression of temporal and spatial changes (BrainSpan)

Footnote:
SC: sub-cortical regions; SM: sensory-motor regions; FC: frontal cortex; and TP: temporal-parietal cortex
ST1: fetal (13 - 26 postconception weeks), ST2: early infancy to late childhood (4 months to 11 years), and ST3: adolescence to adulthood (13 - 23 years)
The bar shown representes the lower 25% and upper 25% of the expression distribution.

No co-expressed genes in brain regions


Section III. Gene Ontology annotation

Biological processGO termEvidenceNeuro keywordsPubMed ID
GO:0007605sensory perception of soundTAS9806553 
Cellular componentGO termEvidenceNeuro keywordsPubMed ID
GO:0005576extracellular regionIEA-
GO:0005578proteinaceous extracellular matrixIEA-

Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
LIU PROSTATE CANCER DN 481290All SZGR 2.0 genes in this pathway
SAMOLS TARGETS OF KHSV MIRNAS UP 87All SZGR 2.0 genes in this pathway
GAL LEUKEMIC STEM CELL DN 244153All SZGR 2.0 genes in this pathway
TONKS TARGETS OF RUNX1 RUNX1T1 FUSION HSC UP 185126All SZGR 2.0 genes in this pathway
LEE NEURAL CREST STEM CELL DN 11879All SZGR 2.0 genes in this pathway
KORKOLA YOLK SAC TUMOR 6233All SZGR 2.0 genes in this pathway
NUYTTEN NIPP1 TARGETS DN 848527All SZGR 2.0 genes in this pathway
NUYTTEN EZH2 TARGETS DN 1024594All SZGR 2.0 genes in this pathway
LOCKWOOD AMPLIFIED IN LUNG CANCER 214139All SZGR 2.0 genes in this pathway
RICKMAN TUMOR DIFFERENTIATED WELL VS POORLY DN 382224All SZGR 2.0 genes in this pathway
KOYAMA SEMA3B TARGETS DN 411249All SZGR 2.0 genes in this pathway
RICKMAN HEAD AND NECK CANCER B 4822All SZGR 2.0 genes in this pathway
BENPORATH ES 1 379235All SZGR 2.0 genes in this pathway
BENPORATH SUZ12 TARGETS 1038678All SZGR 2.0 genes in this pathway
BENPORATH EED TARGETS 1062725All SZGR 2.0 genes in this pathway
GEORGES TARGETS OF MIR192 AND MIR215 893528All SZGR 2.0 genes in this pathway
ALCALAY AML BY NPM1 LOCALIZATION UP 14083All SZGR 2.0 genes in this pathway
ABE INNER EAR 4826All SZGR 2.0 genes in this pathway
CREIGHTON ENDOCRINE THERAPY RESISTANCE 2 473224All SZGR 2.0 genes in this pathway
YEGNASUBRAMANIAN PROSTATE CANCER 12860All SZGR 2.0 genes in this pathway
MCCABE BOUND BY HOXC6 469239All SZGR 2.0 genes in this pathway
VICENT METASTASIS UP 1411All SZGR 2.0 genes in this pathway
ACEVEDO LIVER CANCER WITH H3K27ME3 DN 228114All SZGR 2.0 genes in this pathway
SMID BREAST CANCER RELAPSE IN BONE DN 315197All SZGR 2.0 genes in this pathway
SMID BREAST CANCER BASAL UP 648398All SZGR 2.0 genes in this pathway
BOCHKIS FOXA2 TARGETS 425261All SZGR 2.0 genes in this pathway
BOQUEST STEM CELL CULTURED VS FRESH UP 425298All SZGR 2.0 genes in this pathway
BLUM RESPONSE TO SALIRASIB DN 342220All SZGR 2.0 genes in this pathway
MEISSNER NPC HCP WITH H3K4ME3 AND H3K27ME3 142103All SZGR 2.0 genes in this pathway
MEISSNER BRAIN HCP WITH H3K4ME3 AND H3K27ME3 1069729All SZGR 2.0 genes in this pathway
BOYAULT LIVER CANCER SUBCLASS G23 UP 5235All SZGR 2.0 genes in this pathway
MIKKELSEN NPC HCP WITH H3K4ME3 AND H3K27ME3 210148All SZGR 2.0 genes in this pathway
MARTENS TRETINOIN RESPONSE DN 841431All SZGR 2.0 genes in this pathway
FIGUEROA AML METHYLATION CLUSTER 3 UP 17097All SZGR 2.0 genes in this pathway
FIGUEROA AML METHYLATION CLUSTER 4 UP 11264All SZGR 2.0 genes in this pathway
FIGUEROA AML METHYLATION CLUSTER 6 UP 14081All SZGR 2.0 genes in this pathway
FIGUEROA AML METHYLATION CLUSTER 7 UP 11868All SZGR 2.0 genes in this pathway
WIERENGA STAT5A TARGETS UP 217131All SZGR 2.0 genes in this pathway
WIERENGA STAT5A TARGETS GROUP2 6038All SZGR 2.0 genes in this pathway
JOHNSTONE PARVB TARGETS 3 DN 918550All SZGR 2.0 genes in this pathway
BRUINS UVC RESPONSE VIA TP53 GROUP C 9260All SZGR 2.0 genes in this pathway
KATSANOU ELAVL1 TARGETS DN 14888All SZGR 2.0 genes in this pathway
NABA ECM GLYCOPROTEINS 19699All SZGR 2.0 genes in this pathway
NABA CORE MATRISOME 275148All SZGR 2.0 genes in this pathway
NABA MATRISOME 1028559All SZGR 2.0 genes in this pathway

Section VI. microRNA annotation

miRNA familyTarget positionmiRNA IDmiRNA seq
UTR startUTR endMatch method
miR-1377978041A,m8hsa-miR-137UAUUGCUUAAGAAUACGCGUAG
miR-3782342401Ahsa-miR-378CUCCUGACUCCAGGUCCUGUGU