Gene Page: FANCC

Summary ?
GeneID2176
SymbolFANCC
SynonymsFA3|FAC|FACC
DescriptionFanconi anemia complementation group C
ReferenceMIM:613899|HGNC:HGNC:3584|Ensembl:ENSG00000158169|HPRD:01967|Vega:OTTHUMG00000020279
Gene typeprotein-coding
Map location9q22.3
Pascal p-value0.406
Sherlock p-value0.344
Fetal beta1.794
DMG2 (# studies)
eGeneMyers' cis & trans
SupportAscano FMRP targets

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:PGCnpGenome-wide Association StudyGWAS
DMG:Jaffe_2016Genome-wide DNA methylation analysisThis dataset includes 2,104 probes/CpGs associated with SZ patients (n=108) compared to 136 controls at Bonferroni-adjusted P < 0.05. 3
DMG:Wockner_2014Genome-wide DNA methylation analysisThis dataset includes 4641 differentially methylated probes corresponding to 2929 unique genes between schizophrenia patients (n=24) and controls (n=24). 3

Section I. Genetics and epigenetics annotation

@Differentially methylated gene

ProbeChromosomePositionNearest geneP (dis)Beta (dis)FDR (dis)Study
cg14115740998054883FANCC4.734E-40.6180.046DMG:Wockner_2014
cg02466749998054877FANCC5.575E-40.3360.049DMG:Wockner_2014
cg06202984998079903FANCC1.76E-8-0.036.36E-6DMG:Jaffe_2016

@eQTL annotation

SNP IDChromosomePositioneGeneGene Entrez IDpvalueqvalueTSS distanceeQTL type
rs12405921chr1206695730FANCC21760.15trans
rs17572651chr1218943612FANCC21760.17trans
rs16829545chr2151977407FANCC21762.939E-10trans
rs3845734chr2171125572FANCC21760.04trans
rs7584986chr2184111432FANCC21767.543E-8trans
rs7664496chr456252823FANCC21760.07trans
rs504836chr456285304FANCC21760.07trans
rs534654chr456290219FANCC21760.11trans
snp_a-20785690FANCC21760.13trans
rs10491487chr580323367FANCC21760.19trans
rs16890367chr638078448FANCC21760.07trans
rs7787830chr798797019FANCC21760.13trans
rs11139334chr984209393FANCC21760.03trans
rs16955618chr1529937543FANCC21763.081E-18trans
rs1041786chr2122617710FANCC21760.09trans

Section II. Transcriptome annotation

General gene expression (GTEx)

Not available

Gene expression during devlopment (BrainCloud)

Footnote:
A total of 269 time points ploted, with n=38 fetal samples (x=1:38). Each triangle represents one time point.

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
LUM0.750.54
ISLR0.700.60
ALDH1A20.700.63
C70.680.54
CTSK0.680.58
COL3A10.670.20
OLFML30.660.44
BMP50.650.34
SERPIND10.640.45
OGN0.640.56
Top 10 negatively co-expressed genes
GenePearson's Correlation Spearman's Correlation
AF347015.26-0.31-0.22
AF347015.18-0.31-0.26
MTSS1L-0.29-0.34
SMOX-0.29-0.33
AF347015.2-0.28-0.18
AF347015.15-0.27-0.18
AF347015.8-0.27-0.18
AC010300.1-0.27-0.29
MMD2-0.26-0.23
AF347015.33-0.26-0.17

Section IV. Protein-protein interaction annotation

InteractorsAliases BOfficial full name BExperimentalSourcePubMed ID
ATP6MTATP6ATP synthase 6; ATPase subunit 6Two-hybridBioGRID14499622 
AZIN1MGC3832 | MGC691 | OAZI | OAZIN | ODC1Lantizyme inhibitor 1Two-hybridBioGRID14499622 
CDC2CDC28A | CDK1 | DKFZp686L20222 | MGC111195cell division cycle 2, G1 to S and G2 to M-HPRD,BioGRID9242535 
EIF2AK2EIF2AK1 | MGC126524 | PKR | PRKReukaryotic translation initiation factor 2-alpha kinase 2Affinity Capture-WesternBioGRID12397061 
FANCAFA | FA-H | FA1 | FAA | FACA | FAH | FANCH | MGC75158Fanconi anemia, complementation group AAffinity Capture-MS
Affinity Capture-Western
Reconstituted Complex
Two-hybrid		BioGRID10373536 |10551855 
|10627486 |10961856 
|11063725 |12210728 
|12239156 |12973351 
|15082718 
FANCAFA | FA-H | FA1 | FAA | FACA | FAH | FANCH | MGC75158Fanconi anemia, complementation group A-HPRD9742112 
FANCD2DKFZp762A223 | FA-D2 | FA4 | FACD | FAD | FAD2 | FANCD | FLJ23826Fanconi anemia, complementation group D2-HPRD11751423 
FANCEFACE | FAEFanconi anemia, complementation group E-HPRD,BioGRID11157805 
FANCFFAF | MGC126856Fanconi anemia, complementation group F-HPRD,BioGRID11063725 
FANCGFAG | XRCC9Fanconi anemia, complementation group G-HPRD,BioGRID10373536 
FLJ10213-hypothetical protein FLJ10213Affinity Capture-MSBioGRID17353931 
GSTP1DFN7 | FAEES3 | GST3 | PIglutathione S-transferase pi 1Affinity Capture-Western
Two-hybrid		BioGRID11433346 |14499622 
HSP90AA1FLJ31884 | HSP86 | HSP89A | HSP90A | HSP90N | HSPC1 | HSPCA | HSPCAL1 | HSPCAL4 | HSPN | Hsp89 | Hsp90 | LAP2heat shock protein 90kDa alpha (cytosolic), class A member 1Two-hybridBioGRID14499622 
HSP90B1ECGP | GP96 | GRP94 | TRA1heat shock protein 90kDa beta (Grp94), member 1Two-hybridBioGRID14499622 
HSPA1AFLJ54303 | FLJ54370 | FLJ54392 | FLJ54408 | FLJ75127 | HSP70-1 | HSP70-1A | HSP70I | HSP72 | HSPA1 | HSPA1Bheat shock 70kDa protein 1AAffinity Capture-Western
Two-hybrid		BioGRID12397061 |14499622 
HSPA1AFLJ54303 | FLJ54370 | FLJ54392 | FLJ54408 | FLJ75127 | HSP70-1 | HSP70-1A | HSP70I | HSP72 | HSPA1 | HSPA1Bheat shock 70kDa protein 1A-HPRD11500375 |12397061 
HSPA8HSC54 | HSC70 | HSC71 | HSP71 | HSP73 | HSPA10 | LAP1 | MGC131511 | MGC29929 | NIP71heat shock 70kDa protein 8Two-hybridBioGRID14499622 
IKCSA2 | MGC59741 | REDIK cytokine, down-regulator of HLA IITwo-hybridBioGRID14499622 
KRT1CK1 | EHK1 | K1 | KRT1Akeratin 1Two-hybridBioGRID14499622 
RPL18-ribosomal protein L18Two-hybridBioGRID14499622 
RPS3AFTE1 | MFTL | MGC23240ribosomal protein S3ATwo-hybridBioGRID14499622 
SPTA1EL2 | SPTAspectrin, alpha, erythrocytic 1 (elliptocytosis 2)-HPRD10551855 
SPTAN1(ALPHA)II-SPECTRIN | FLJ44613 | NEASspectrin, alpha, non-erythrocytic 1 (alpha-fodrin)Affinity Capture-Western
Co-purification		BioGRID10551855 |11401546 
STAT1DKFZp686B04100 | ISGF-3 | STAT91signal transducer and activator of transcription 1, 91kDa-HPRD,BioGRID10848598 
TCERG1CA150 | MGC133200 | TAF2Stranscription elongation regulator 1Two-hybridBioGRID14499622 
USP14TGTubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)Two-hybridBioGRID14499622 
ZBTB32FAXF | FAZF | Rog | TZFP | ZNF538zinc finger and BTB domain containing 32Affinity Capture-Western
Two-hybrid		BioGRID10572087 |14499622 
ZBTB32FAXF | FAZF | Rog | TZFP | ZNF538zinc finger and BTB domain containing 32-HPRD10572087 |11986317 
ZBTB32FAXF | FAZF | Rog | TZFP | ZNF538zinc finger and BTB domain containing 32-HPRD11986317 


Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
BIOCARTA ATRBRCA PATHWAY 2112All SZGR 2.0 genes in this pathway
PID FANCONI PATHWAY 4728All SZGR 2.0 genes in this pathway
PID BARD1 PATHWAY 2919All SZGR 2.0 genes in this pathway
REACTOME FANCONI ANEMIA PATHWAY 2511All SZGR 2.0 genes in this pathway
REACTOME DNA REPAIR 11259All SZGR 2.0 genes in this pathway
GRAESSMANN APOPTOSIS BY DOXORUBICIN DN 17811082All SZGR 2.0 genes in this pathway
MATHEW FANCONI ANEMIA GENES 117All SZGR 2.0 genes in this pathway
MYLLYKANGAS AMPLIFICATION HOT SPOT 8 187All SZGR 2.0 genes in this pathway
SCHLOSSER SERUM RESPONSE DN 712443All SZGR 2.0 genes in this pathway
MOHANKUMAR TLX1 TARGETS UP 414287All SZGR 2.0 genes in this pathway
KIM MYCN AMPLIFICATION TARGETS UP 9264All SZGR 2.0 genes in this pathway
PUJANA BRCA1 PCC NETWORK 16521023All SZGR 2.0 genes in this pathway
LOPEZ MBD TARGETS 957597All SZGR 2.0 genes in this pathway
WEI MYCN TARGETS WITH E BOX 795478All SZGR 2.0 genes in this pathway
BENPORATH SOX2 TARGETS 734436All SZGR 2.0 genes in this pathway
MORI LARGE PRE BII LYMPHOCYTE UP 8649All SZGR 2.0 genes in this pathway
KAUFFMANN DNA REPAIR GENES 230137All SZGR 2.0 genes in this pathway
IVANOVA HEMATOPOIESIS STEM CELL AND PROGENITOR 681420All SZGR 2.0 genes in this pathway
FOSTER TOLERANT MACROPHAGE DN 409268All SZGR 2.0 genes in this pathway
MATZUK MEIOTIC AND DNA REPAIR 3926All SZGR 2.0 genes in this pathway
GRESHOCK CANCER COPY NUMBER UP 323240All SZGR 2.0 genes in this pathway
YOSHIMURA MAPK8 TARGETS UP 1305895All SZGR 2.0 genes in this pathway
SWEET LUNG CANCER KRAS DN 435289All SZGR 2.0 genes in this pathway
DUTERTRE ESTRADIOL RESPONSE 24HR UP 324193All SZGR 2.0 genes in this pathway
WAKABAYASHI ADIPOGENESIS PPARG BOUND 8D 658397All SZGR 2.0 genes in this pathway
ROESSLER LIVER CANCER METASTASIS UP 10772All SZGR 2.0 genes in this pathway