Gene | Associated with CEREBROOCULOFACIOSKELETAL SYNDROME in | Link to HGNC | Cytogenetic band | Number of associated diseases | Associated diseases |
---|---|---|---|---|---|
ERCC1 | ClinVar, OMIM, HUMSAVAR | HGNC link | 19q13.32 | 1 | PS214150 |
ERCC2 | ClinVar, OMIM, HUMSAVAR | HGNC link | 19q13.32 | 3 | 278730, PS601675, PS214150 |
ERCC5 | ClinVar, OMIM | HGNC link | 13q33.1 | 2 | PS214150, 278780 |
ERCC6 | ClinVar, OMIM, HUMSAVAR | HGNC link | 10q11.23 | 6 | 211980, PS603075, 133540, PS600630, PS214150, 278800 |
Download the disease annotation in CSV format
Shared sub_band | Number of genes associated with the disease | Genes associated with the disease |
---|---|---|
19q13.32 | 2 | ERCC2, ERCC1 |
Shared band | Number of genes associated with the disease | Genes associated with the disease |
---|---|---|
19q13 | 2 | ERCC2, ERCC1 |
Shared region | Number of genes associated with the disease | Genes associated with the disease |
---|---|---|
19q1 | 2 | ERCC2, ERCC1 |
regulated gene | associated to this disease | # TFs | TFs | # TFs associated with this disease | TFs associated with this disease |
---|---|---|---|---|---|
ERCC1 | YES | 3 | ZNRD1, KAT5, E2F1 | 0 | |
ERCC2 | YES | 1 | HIF1A | 0 | |
ERCC5 | YES | 3 | YY1, E2F1, CEBPG | 0 |
Gene1 | Gene2 | Direct Interaction | Number of shared interactors | Shared genes in interaction |
---|---|---|---|---|
ERCC1 | ERCC2 | No | 3 | ACAT1, GTF2H1, TOPBP1 |
ERCC1 | ERCC5 | No | 3 | GTF2H1, TAF10, POLR2A |
ERCC1 | ERCC6 | No | 3 | POLR2A, ERCC4, XPA |
ERCC2 | ERCC5 | Yes | 7 | GTF2H1, CCNH, GTF2H5, PIDD1, ERCC6, CDK7, ERCC3 |
ERCC2 | ERCC6 | Yes | 3 | ERCC5, ERCC3, TP53 |
ERCC5 | ERCC6 | Yes | 4 | POLR2A, ERCC3, ERCC2, PCNA |
Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)
Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)
KEGG term | KEGG term ID | IC | Number of genes with the same term | Genes |
---|---|---|---|---|
Nucleotide excision repair | hsa03420 | 7.15 | 4 | ERCC1, ERCC5, ERCC6, ERCC2 |
Term | New enriched term | IC | P value | Genes |
---|---|---|---|---|
Nucleotide excision repair (hsa03420) | - | 7.15 | 0.0 | ERCC1, ERCC5, ERCC6, ERCC2 |
Genetic Information Processing | NEW | 2.48 | 0.007 | ERCC1, ERCC5, ERCC6, ERCC2 |
Replication and repair | NEW | 5.41 | 0.0 | ERCC1, ERCC5, ERCC6, ERCC2 |
REACTOME term | REACTOME term ID | IC | Number of genes with the same term | Genes |
---|---|---|---|---|
Transcription-coupled NER (TC-NER) | R-HSA-73937 | 7.49 | 4 | ERCC1, ERCC5, ERCC6, ERCC2 |
DNA Repair | R-HSA-73894 | 5.8 | 4 | ERCC1, ERCC5, ERCC6, ERCC2 |
Nucleotide Excision Repair | R-HSA-73885 | 7.34 | 4 | ERCC1, ERCC5, ERCC6, ERCC2 |
Dual incision reaction in TC-NER | R-HSA-110304 | 8.12 | 4 | ERCC1, ERCC5, ERCC6, ERCC2 |
Formation of transcription-coupled NER (TC-NER) repair complex | R-HSA-110302 | 8.12 | 4 | ERCC1, ERCC5, ERCC6, ERCC2 |
Global Genomic NER (GG-NER) | R-HSA-109970 | 7.89 | 3 | ERCC1, ERCC5, ERCC2 |
Dual incision reaction in GG-NER | R-HSA-73941 | 8.59 | 3 | ERCC1, ERCC5, ERCC2 |
Formation of incision complex in GG-NER | R-HSA-73935 | 8.59 | 3 | ERCC1, ERCC5, ERCC2 |
RNA Polymerase I Transcription Initiation | R-HSA-73762 | 7.43 | 2 | ERCC6, ERCC2 |
RNA Polymerase I Promoter Clearance | R-HSA-73854 | 6.75 | 2 | ERCC6, ERCC2 |
Gene Expression | R-HSA-74160 | 2.72 | 2 | ERCC6, ERCC2 |
RNA Polymerase I Transcription | R-HSA-73864 | 6.72 | 2 | ERCC6, ERCC2 |
RNA Polymerase I, RNA Polymerase III, and Mitochondrial Transcription | R-HSA-504046 | 6.16 | 2 | ERCC6, ERCC2 |
Term | New enriched term | IC | P value | Genes |
---|---|---|---|---|
hydrolase activity (GO:0016787) | - | 1.9 | 0.037 | ERCC1, ERCC5, ERCC6, ERCC2 |
protein C-terminus binding (GO:0008022) | - | 4.5 | 0.0 | ERCC1, ERCC6, ERCC2 |
protein N-terminus binding (GO:0047485) | - | 5.11 | 0.001 | ERCC5, ERCC6, ERCC2 |
ATPase activity, coupled (GO:0042623) | - | 3.97 | 0.01 | ERCC5, ERCC6, ERCC2 |
deoxyribonuclease activity (GO:0004536) | - | 5.48 | 0.021 | ERCC1, ERCC5 |
endonuclease activity (GO:0004519) | - | 4.78 | 0.02 | ERCC1, ERCC5 |
DNA-dependent ATPase activity (GO:0008094) | - | 5.31 | 0.006 | ERCC6, ERCC2 |
endodeoxyribonuclease activity (GO:0004520) | - | 5.81 | 0.009 | ERCC1, ERCC5 |
ATPase activity (GO:0016887) | - | 3.65 | 0.03 | ERCC5, ERCC6, ERCC2 |
DNA binding (GO:0003677) | - | 1.92 | 0.029 | ERCC1, ERCC5, ERCC6, ERCC2 |
single-stranded DNA binding (GO:0003697) | - | 5.17 | 0.03 | ERCC1, ERCC5 |
Term | New enriched term | IC | P value | Genes |
---|---|---|---|---|
protein kinase complex (GO:1902911) | - | 5.31 | 0.022 | ERCC1, ERCC2 |
RNA polymerase II transcription factor complex (GO:0090575) | - | 5.18 | 0.004 | ERCC1, ERCC2 |
nucleoplasm (GO:0005654) | - | 1.89 | 0.0 | ERCC1, ERCC5, ERCC6, ERCC2 |
nuclear transcription factor complex (GO:0044798) | - | 4.95 | 0.004 | ERCC1, ERCC2 |
nuclear part (GO:0044428) | - | 1.55 | 0.015 | ERCC1, ERCC5, ERCC6, ERCC2 |
transcription factor complex (GO:0005667) | - | 4.1 | 0.049 | ERCC1, ERCC2 |
nucleoplasm part (GO:0044451) | - | 3.22 | 0.006 | ERCC1, ERCC6, ERCC2 |