Disease table of PROGERIA OMIM ID: PS176670

Gene-disease associations table

GeneAssociated with PROGERIA inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
BANF1ClinVar, OMIM, HUMSAVARHGNC link11q13.11PS176670
LMNAClinVar, OMIM, HUMSAVARHGNC link1q2212212112, PS310300, PS248370, PS176670, PS118220, PS604772, PS159000, PS115200, 613205, 275210, 610140, PS151660

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
Transcription Factors (TF) annotation from TRRUST
Interactions from BIOGRID - physical
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
BANF1LMNAYes10BANF1, EMD, LMNB2, NUMA1, MDC1, TMPO, LMNA, PARP1, RBBP4, FLNA

Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)

Interactions from BIOGRID - genetic
Interactions from STRING
Interactions from CORUM
Gene1Gene2Direct InteractionComplexesNumber of shared interactorsShared genes in interaction
BANF1LMNANo-16HIST1H3E, HIST1H3J, HIST1H3B, HIST1H3G, EMD, HIST1H1A, HIST1H3I, HIST1H3H, HIST1H3A; HIST1H3B; HIST1H3C; HIST1H3D; HIST1H3E; HIST1H3F; HIST1H3G; HIST1H3H; HIST1H3I; HIST1H3J, HIST1H3F, ACTB, SAP130, HIST1H3C, HIST1H3A, LMNB1, HIST1H3D

Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)

Interactions from CENSUS
Interactions from PDB
Interactions from manually curated literature
Gene1Gene2Direct interactionMore information
BANF1LMNAyes, they interactBANF1 interacts with CRX and LMNA (lamin-A). [UniProt]
KEGG pathways annotation: NET-GE enrichment (no shared terms)

NET-GE enrichment

Term New enriched termICP valueGenes
Protein processing in endoplasmic reticulum (hsa04141) NEW5.350.028BANF1, LMNA
REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
Mitotic Metaphase and AnaphaseR-HSA-25553965.452BANF1, LMNA
Initiation of Nuclear Envelope ReformationR-HSA-29953839.282BANF1, LMNA
M PhaseR-HSA-688864.872BANF1, LMNA
Cell Cycle, MitoticR-HSA-692784.162BANF1, LMNA
Mitotic AnaphaseR-HSA-688825.462BANF1, LMNA
Clearance of Nuclear Envelope Membranes from ChromatinR-HSA-29939139.812BANF1, LMNA
Cell CycleR-HSA-16401703.892BANF1, LMNA
Nuclear Envelope ReassemblyR-HSA-29954109.282BANF1, LMNA
Nuclear Envelope BreakdownR-HSA-29807667.342BANF1, LMNA
Mitotic ProphaseR-HSA-688756.272BANF1, LMNA

NET-GE enrichment

Term New enriched termICP valueGenes
Mitotic Prophase (R-HSA-68875) -6.270.016BANF1, LMNA
Mitotic Metaphase and Anaphase (R-HSA-2555396) -5.450.033BANF1, LMNA
M Phase (R-HSA-68886) -4.870.042BANF1, LMNA
Initiation of Nuclear Envelope Reformation (R-HSA-2995383) -9.280.0BANF1, LMNA
Mitotic Anaphase (R-HSA-68882) -5.460.019BANF1, LMNA
Clearance of Nuclear Envelope Membranes from Chromatin (R-HSA-2993913) -9.810.0BANF1, LMNA
Nuclear Envelope Breakdown (R-HSA-2980766) -7.340.001BANF1, LMNA
Nuclear Envelope Reassembly (R-HSA-2995410) -9.280.0BANF1, LMNA
GO - molecular function annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
binding (GO:0005488) 0.182BANF1, LMNA
protein binding (GO:0005515) 0.462BANF1, LMNA
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
nuclear transport (GO:0051169) 4.22BANF1, LMNA
mitotic cell cycle process (GO:1903047) 3.122BANF1, LMNA
membrane organization (GO:0061024) 3.042BANF1, LMNA
cell cycle process (GO:0022402) 2.752BANF1, LMNA
single-organism process (GO:0044699) 0.482BANF1, LMNA
nuclear envelope disassembly (GO:0051081) 5.882BANF1, LMNA
cellular component organization (GO:0016043) 1.242BANF1, LMNA
cellular component organization or biogenesis (GO:0071840) 1.222BANF1, LMNA
mitotic nuclear envelope reassembly (GO:0007084) 7.432BANF1, LMNA
transport (GO:0006810) 1.512BANF1, LMNA
cellular process (GO:0009987) 0.262BANF1, LMNA
nuclear envelope reassembly (GO:0031468) 6.92BANF1, LMNA
single-organism cellular process (GO:0044763) 0.652BANF1, LMNA
establishment of localization in cell (GO:0051649) 2.472BANF1, LMNA
mitotic nuclear envelope disassembly (GO:0007077) 5.942BANF1, LMNA
establishment of localization (GO:0051234) 1.482BANF1, LMNA
localization (GO:0051179) 1.42BANF1, LMNA
cellular localization (GO:0051641) 2.322BANF1, LMNA
membrane disassembly (GO:0030397) 5.882BANF1, LMNA
response to external stimulus (GO:0009605) 2.552BANF1, LMNA
intracellular transport (GO:0046907) 2.672BANF1, LMNA
response to stimulus (GO:0050896) 1.222BANF1, LMNA
nuclear envelope organization (GO:0006998) 5.452BANF1, LMNA
single-organism membrane organization (GO:0044802) 3.192BANF1, LMNA
cellular component disassembly (GO:0022411) 3.522BANF1, LMNA

NET-GE enrichment

Term New enriched termICP valueGenes
membrane disassembly (GO:0030397) -5.880.003BANF1, LMNA
nuclear envelope disassembly (GO:0051081) -5.880.003BANF1, LMNA
nuclear envelope organization (GO:0006998) -5.450.002BANF1, LMNA
nuclear envelope reassembly (GO:0031468) -6.90.0BANF1, LMNA
mitotic nuclear envelope reassembly (GO:0007084) -7.430.0BANF1, LMNA
mitotic nuclear envelope disassembly (GO:0007077) -5.940.001BANF1, LMNA
GO - cellular component annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
cytoplasm (GO:0005737) 1.012BANF1, LMNA
intracellular organelle part (GO:0044446) 0.812BANF1, LMNA
cytosol (GO:0005829) 1.682BANF1, LMNA
intracellular membrane-bounded organelle (GO:0043231) 0.62BANF1, LMNA
nucleus (GO:0005634) 1.072BANF1, LMNA
cell part (GO:0044464) 0.112BANF1, LMNA
cytoplasmic part (GO:0044444) 0.822BANF1, LMNA
nucleoplasm (GO:0005654) 1.892BANF1, LMNA
intracellular organelle (GO:0043229) 0.512BANF1, LMNA
nuclear part (GO:0044428) 1.552BANF1, LMNA
intracellular part (GO:0044424) 0.282BANF1, LMNA
membrane-bounded organelle (GO:0043227) 0.472BANF1, LMNA
organelle (GO:0043226) 0.42BANF1, LMNA
organelle part (GO:0044422) 0.792BANF1, LMNA