Gene Page: COL7A1

Summary ?
GeneID1294
SymbolCOL7A1
SynonymsEBD1|EBDCT|EBR1|NDNC8
Descriptioncollagen type VII alpha 1
ReferenceMIM:120120|HGNC:HGNC:2214|Ensembl:ENSG00000114270|HPRD:00358|Vega:OTTHUMG00000133541
Gene typeprotein-coding
Map location3p21.1
Pascal p-value0.014
Sherlock p-value0.334
eGeneMyers' cis & trans

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:PGCnpGenome-wide Association StudyGWAS

Section I. Genetics and epigenetics annotation

@eQTL annotation

SNP IDChromosomePositioneGeneGene Entrez IDpvalueqvalueTSS distanceeQTL type
rs16829545chr2151977407COL7A112946.985E-7trans
rs3845734chr2171125572COL7A112940trans
rs7584986chr2184111432COL7A112947.934E-5trans
rs17762315chr576807576COL7A112940.11trans
rs16955618chr1529937543COL7A112945.804E-13trans
rs1041786chr2122617710COL7A112940.01trans

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.

Top co-expressed genes in brain regions

Top 10 positively co-expressed genes
GenePearson's Correlation Spearman's Correlation
SDK20.800.82
DNAH100.780.76
MACF10.740.78
ICA1L0.730.77
NAV20.720.82
ASXL30.710.75
ZNF700.710.72
ADAMTS90.710.75
MDGA10.710.79
TET20.710.76
Top 10 negatively co-expressed genes
GenePearson's Correlation Spearman's Correlation
HSD17B14-0.48-0.61
ACOT13-0.47-0.55
AF347015.31-0.47-0.66
TSC22D4-0.47-0.60
S100B-0.46-0.63
RAMP1-0.46-0.60
MT-CO2-0.46-0.65
DCXR-0.46-0.59
AF347015.27-0.46-0.62
BDH2-0.46-0.59

Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
PID INTEGRIN1 PATHWAY 6644All SZGR 2.0 genes in this pathway
PID AVB3 INTEGRIN PATHWAY 7553All SZGR 2.0 genes in this pathway
PID SYNDECAN 1 PATHWAY 4629All SZGR 2.0 genes in this pathway
REACTOME EXTRACELLULAR MATRIX ORGANIZATION 8742All SZGR 2.0 genes in this pathway
REACTOME COLLAGEN FORMATION 5831All SZGR 2.0 genes in this pathway
LIU PROSTATE CANCER DN 481290All SZGR 2.0 genes in this pathway
GAL LEUKEMIC STEM CELL UP 13378All SZGR 2.0 genes in this pathway
VECCHI GASTRIC CANCER EARLY UP 430232All SZGR 2.0 genes in this pathway
SMIRNOV CIRCULATING ENDOTHELIOCYTES IN CANCER UP 158103All SZGR 2.0 genes in this pathway
JAEGER METASTASIS DN 258141All SZGR 2.0 genes in this pathway
KINSEY TARGETS OF EWSR1 FLII FUSION DN 329219All SZGR 2.0 genes in this pathway
RODRIGUES THYROID CARCINOMA ANAPLASTIC UP 722443All SZGR 2.0 genes in this pathway
ENK UV RESPONSE EPIDERMIS DN 508354All SZGR 2.0 genes in this pathway
LINDGREN BLADDER CANCER CLUSTER 3 DN 229142All SZGR 2.0 genes in this pathway
MCBRYAN PUBERTAL BREAST 4 5WK UP 271175All SZGR 2.0 genes in this pathway
MCBRYAN PUBERTAL TGFB1 TARGETS UP 169127All SZGR 2.0 genes in this pathway
HU ANGIOGENESIS UP 2116All SZGR 2.0 genes in this pathway
HUMMERICH SKIN CANCER PROGRESSION UP 8858All SZGR 2.0 genes in this pathway
PATIL LIVER CANCER 747453All SZGR 2.0 genes in this pathway
DAIRKEE TERT TARGETS UP 380213All SZGR 2.0 genes in this pathway
BENPORATH NANOG TARGETS 988594All SZGR 2.0 genes in this pathway
BENPORATH CYCLING GENES 648385All SZGR 2.0 genes in this pathway
CERVERA SDHB TARGETS 2 11476All SZGR 2.0 genes in this pathway
SWEET KRAS TARGETS UP 8451All SZGR 2.0 genes in this pathway
KANG IMMORTALIZED BY TERT UP 8961All SZGR 2.0 genes in this pathway
NGUYEN NOTCH1 TARGETS DN 8667All SZGR 2.0 genes in this pathway
URS ADIPOCYTE DIFFERENTIATION UP 7451All SZGR 2.0 genes in this pathway
BLALOCK ALZHEIMERS DISEASE UP 16911088All SZGR 2.0 genes in this pathway
TSENG IRS1 TARGETS UP 11371All SZGR 2.0 genes in this pathway
NIELSEN LEIOMYOSARCOMA UP 1810All SZGR 2.0 genes in this pathway
MAHAJAN RESPONSE TO IL1A UP 8152All SZGR 2.0 genes in this pathway
TSENG ADIPOGENIC POTENTIAL UP 3019All SZGR 2.0 genes in this pathway
LEE METASTASIS AND ALTERNATIVE SPLICING UP 7451All SZGR 2.0 genes in this pathway
MOOTHA PGC 420269All SZGR 2.0 genes in this pathway
BOYAULT LIVER CANCER SUBCLASS G6 UP 6543All SZGR 2.0 genes in this pathway
MIKKELSEN IPS ICP WITH H3K4ME3 AND H327ME3 12683All SZGR 2.0 genes in this pathway
DORN ADENOVIRUS INFECTION 12HR DN 3325All SZGR 2.0 genes in this pathway
DORN ADENOVIRUS INFECTION 24HR DN 4332All SZGR 2.0 genes in this pathway
DORN ADENOVIRUS INFECTION 32HR DN 3928All SZGR 2.0 genes in this pathway
DORN ADENOVIRUS INFECTION 48HR DN 4029All SZGR 2.0 genes in this pathway
MIKKELSEN ES ICP WITH H3K4ME3 718401All SZGR 2.0 genes in this pathway
WHITFIELD CELL CYCLE S 16286All SZGR 2.0 genes in this pathway
CHICAS RB1 TARGETS SENESCENT 572352All SZGR 2.0 genes in this pathway
BRUINS UVC RESPONSE VIA TP53 GROUP B 549316All SZGR 2.0 genes in this pathway
LEE BMP2 TARGETS UP 745475All SZGR 2.0 genes in this pathway
KOINUMA TARGETS OF SMAD2 OR SMAD3 824528All SZGR 2.0 genes in this pathway
PURBEY TARGETS OF CTBP1 AND SATB1 UP 8752All SZGR 2.0 genes in this pathway
JUBAN TARGETS OF SPI1 AND FLI1 UP 11573All SZGR 2.0 genes in this pathway
KOHOUTEK CCNT1 TARGETS 5026All SZGR 2.0 genes in this pathway
KRIEG HYPOXIA VIA KDM3A 5334All SZGR 2.0 genes in this pathway
PHONG TNF RESPONSE VIA P38 PARTIAL 160106All SZGR 2.0 genes in this pathway
ACEVEDO FGFR1 TARGETS IN PROSTATE CANCER MODEL DN 308187All SZGR 2.0 genes in this pathway
LIM MAMMARY STEM CELL UP 489314All SZGR 2.0 genes in this pathway
NABA COLLAGENS 4426All 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