VCF1
gene geneOn this page
Also known as FLJ14775
Summary
VCF1 (VCP nuclear cofactor family member 1, HGNC:25918) is a protein-coding gene on chromosome 17q25.1, encoding Protein VCF1 (Q969W3).
At a glance
- GWAS associations: 7
- Clinical variants (ClinVar): 68 total
- GTEx eGene: eQTL in 9 tissues, sQTL in 15 (q < 0.05)
- Constraint (gnomAD): pLI 0.00 (LoF-tolerant), LOEUF 1.72 (unconstrained)
- MANE Select transcript:
NM_001098832 - Notable: 68 clinical variants but no curated precision-oncology (CIViC) evidence yet
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:25918 |
| Approved symbol | VCF1 |
| Name | VCP nuclear cofactor family member 1 |
| Location | 17q25.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ14775 |
| Ensembl gene | ENSG00000133193 |
| Ensembl biotype | protein_coding |
| OMIM | 621109 |
| Entrez | 84923 |
Gene structure
Transcript identifiers
Ensembl transcripts: 12 — 8 protein_coding, 2 protein_coding_CDS_not_defined, 2 nonsense_mediated_decay
MANE Select: ENST00000405159
Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 2, TSL 2: 2, TSL 3: 2, TSL 4: 1
ENST00000405159, ENST00000403627, ENST00000579872, ENST00000580032, ENST00000581110, ENST00000583024, ENST00000583178, ENST00000923017, ENST00000947727, ENST00001079860, ENST00001119039, ENST00001142330
RefSeq mRNA: 5 — MANE Select: NM_001098832
NM_001098832, NM_001289410, NM_001289411, NM_001289412, NM_032837
CCDS: CCDS11693, CCDS45766, CCDS74143, CCDS74144
Canonical transcript exons
ENST00000405159 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00003623436 | 73212678 | 73212740 |
| ENSE00003680637 | 73227165 | 73227264 |
| ENSE00003928165 | 73207365 | 73209768 |
| ENSE00004800692 | 73232086 | 73232394 |
Expression profiles
Bgee: expression breadth ubiquitous, 255 present calls, max score 99.60.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 42.5455 / max 894.9366, expressed in 1824 samples.
Highest expression (Bgee): sperm, testis, epithelial cell of pancreas, pancreatic ductal cell, trabecular bone tissue.
Genetic regulation across tissues (GTEx eQTL / sQTL)
VCF1 is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 9 tissues and its splicing (sQTL) in 15 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.
showing 20 of 24 significant tissue × QTL associations:
| Tissue | QTL | q-value | Slope | Lead variant |
|---|---|---|---|---|
| Testis | eqtl | 4.0e-34 | +0.19 | 17:73191491:C:T |
| Cells Cultured fibroblasts | sqtl | 6.8e-23 | +0.57 | 17:73214631:C:A |
| Cells EBV-transformed lymphocytes | sqtl | 2.7e-11 | +0.55 | 17:73209715:A:G |
| Whole Blood | eqtl | 3.5e-06 | +0.11 | 17:73218611:G:A |
| Adipose Visceral Omentum | sqtl | 1.0e-05 | -0.30 | 17:73224313:C:T |
| Esophagus Muscularis | sqtl | 6.0e-05 | +0.36 | 17:73213990:T:C |
| Nerve Tibial | sqtl | 1.1e-04 | +0.30 | 17:73205960:C:CA |
| Artery Tibial | sqtl | 5.9e-04 | +0.29 | 17:73214786:C:A |
| Skin Sun Exposed Lower leg | sqtl | 2.0e-03 | +0.27 | 17:73214786:C:A |
| Prostate | eqtl | 2.4e-03 | -0.56 | 17:72596676:G:C |
| Whole Blood | sqtl | 3.2e-03 | +0.27 | 17:73209715:A:G |
| Adipose Subcutaneous | sqtl | 4.4e-03 | +0.25 | 17:73205960:C:CA |
| Thyroid | eqtl | 5.7e-03 | -0.16 | 17:73220935:G:T |
| Skin Not Sun Exposed Suprapubic | sqtl | 9.7e-03 | +0.26 | 17:73216980:T:G |
| Esophagus Gastroesophageal Junction | sqtl | 9.8e-03 | -0.34 | 17:73205960:C:CA |
| Thyroid | sqtl | 1.2e-02 | +0.23 | 17:73234964:T:C |
| Esophagus Mucosa | sqtl | 1.4e-02 | +0.28 | 17:73192144:C:T |
| Muscle Skeletal | sqtl | 1.5e-02 | +0.24 | 17:73216980:T:G |
| Esophagus Mucosa | eqtl | 2.2e-02 | +0.35 | 17:73949258:T:C |
| Lung | eqtl | 2.6e-02 | -0.16 | 17:73209891:T:C |
FANTOM5 promoters
7 alternative TSS:
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 167899 | 40.0593 | 1822 |
| 167898 | 1.2761 | 645 |
| 167897 | 0.9603 | 534 |
| 167893 | 0.1904 | 74 |
| 167895 | 0.0214 | 4 |
| 167894 | 0.0212 | 11 |
| 167896 | 0.0169 | 4 |
Top tissues by expression
showing 100 of 256 tissues by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| sperm | CL:0000019 | 99.60 | gold quality |
| left testis | UBERON:0004533 | 97.90 | gold quality |
| right testis | UBERON:0004534 | 97.66 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 97.16 | gold quality |
| pancreatic ductal cell | CL:0002079 | 96.77 | gold quality |
| testis | UBERON:0000473 | 96.24 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 94.14 | gold quality |
| ileal mucosa | UBERON:0000331 | 93.37 | gold quality |
| blood | UBERON:0000178 | 92.99 | gold quality |
| bone marrow | UBERON:0002371 | 92.07 | gold quality |
| upper arm skin | UBERON:0004263 | 91.80 | gold quality |
| monocyte | CL:0000576 | 91.36 | gold quality |
| leukocyte | CL:0000738 | 91.23 | gold quality |
| gingival epithelium | UBERON:0001949 | 91.09 | gold quality |
| tibialis anterior | UBERON:0001385 | 90.69 | gold quality |
| oviduct epithelium | UBERON:0004804 | 90.49 | gold quality |
| parotid gland | UBERON:0001831 | 90.41 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 89.98 | gold quality |
| upper leg skin | UBERON:0004262 | 89.79 | gold quality |
| gingiva | UBERON:0001828 | 89.70 | gold quality |
| bone marrow cell | CL:0002092 | 88.80 | gold quality |
| adult organism | UBERON:0007023 | 88.56 | gold quality |
| nipple | UBERON:0002030 | 88.45 | gold quality |
| endothelial cell | CL:0000115 | 88.13 | gold quality |
| granulocyte | CL:0000094 | 88.08 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 87.99 | silver quality |
| skin of hip | UBERON:0001554 | 87.92 | gold quality |
| calcaneal tendon | UBERON:0003701 | 87.57 | gold quality |
| placenta | UBERON:0001987 | 87.49 | gold quality |
| penis | UBERON:0000989 | 87.45 | gold quality |
| deltoid | UBERON:0001476 | 87.45 | silver quality |
| superior surface of tongue | UBERON:0007371 | 87.29 | gold quality |
| stromal cell of endometrium | CL:0002255 | 87.26 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 87.23 | gold quality |
| islet of Langerhans | UBERON:0000006 | 87.12 | gold quality |
| synovial joint | UBERON:0002217 | 87.09 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 87.09 | silver quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 87.05 | gold quality |
| ganglionic eminence | UBERON:0004023 | 86.99 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 86.72 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 86.71 | gold quality |
| nasal cavity mucosa | UBERON:0001826 | 86.59 | gold quality |
| layer of synovial tissue | UBERON:0007616 | 86.43 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 86.36 | gold quality |
| vena cava | UBERON:0004087 | 86.32 | gold quality |
| saphenous vein | UBERON:0007318 | 86.32 | gold quality |
| tongue | UBERON:0001723 | 86.23 | gold quality |
| body of tongue | UBERON:0011876 | 86.12 | gold quality |
| skin of abdomen | UBERON:0001416 | 86.09 | gold quality |
| zone of skin | UBERON:0000014 | 86.08 | gold quality |
| epithelium of mammary gland | UBERON:0003244 | 86.08 | gold quality |
| trachea | UBERON:0003126 | 86.05 | gold quality |
| mammary duct | UBERON:0001765 | 85.98 | gold quality |
| lymph node | UBERON:0000029 | 85.80 | gold quality |
| cardia of stomach | UBERON:0001162 | 85.65 | gold quality |
| skin of leg | UBERON:0001511 | 85.65 | gold quality |
| endometrium | UBERON:0001295 | 85.46 | gold quality |
| superficial temporal artery | UBERON:0001614 | 85.45 | gold quality |
| tonsil | UBERON:0002372 | 85.16 | gold quality |
| pancreas | UBERON:0001264 | 85.03 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 84.85 | silver quality |
| urethra | UBERON:0000057 | 84.84 | gold quality |
| esophagus mucosa | UBERON:0002469 | 84.83 | gold quality |
| gastrocnemius | UBERON:0001388 | 84.79 | gold quality |
| quadriceps femoris | UBERON:0001377 | 84.76 | silver quality |
| descending thoracic aorta | UBERON:0002345 | 84.76 | gold quality |
| thymus | UBERON:0002370 | 84.75 | gold quality |
| cortical plate | UBERON:0005343 | 84.75 | gold quality |
| right coronary artery | UBERON:0001625 | 84.72 | gold quality |
| tendon | UBERON:0000043 | 84.70 | gold quality |
| muscle of leg | UBERON:0001383 | 84.68 | gold quality |
| oocyte | CL:0000023 | 84.63 | gold quality |
| ventricular zone | UBERON:0003053 | 84.60 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 84.60 | gold quality |
| pericardium | UBERON:0002407 | 84.59 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 84.57 | gold quality |
| amniotic fluid | UBERON:0000173 | 84.56 | gold quality |
| mammary gland | UBERON:0001911 | 84.56 | gold quality |
| vastus lateralis | UBERON:0001379 | 84.52 | silver quality |
| thoracic mammary gland | UBERON:0005200 | 84.49 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 84.41 | gold quality |
| mammalian vulva | UBERON:0000997 | 84.35 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 84.34 | gold quality |
| adipose tissue | UBERON:0001013 | 84.31 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 84.27 | gold quality |
| material anatomical entity | UBERON:0000465 | 84.25 | gold quality |
| anatomical system | UBERON:0000467 | 84.24 | gold quality |
| multicellular organism | UBERON:0000468 | 84.24 | gold quality |
| adenohypophysis | UBERON:0002196 | 84.22 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 84.15 | gold quality |
| vermiform appendix | UBERON:0001154 | 84.10 | gold quality |
| fallopian tube | UBERON:0003889 | 84.06 | gold quality |
| body of pancreas | UBERON:0001150 | 84.02 | gold quality |
| popliteal artery | UBERON:0002250 | 84.01 | gold quality |
| tibial artery | UBERON:0007610 | 84.01 | gold quality |
| lower lobe of lung | UBERON:0008949 | 83.93 | gold quality |
| mucosa of stomach | UBERON:0001199 | 83.92 | gold quality |
| aorta | UBERON:0000947 | 83.87 | gold quality |
| primary visual cortex | UBERON:0002436 | 83.87 | gold quality |
| vagina | UBERON:0000996 | 83.84 | gold quality |
Single-cell (SCXA)
Detected in 4 experiment(s), a significant marker in 3.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-134144 | yes | 28.58 |
| E-MTAB-10042 | yes | 25.83 |
| E-HCAD-10 | no | 1.94 |
| E-ANND-3 | no | 0.00 |
HPA expression
RNA tissue specificity: Tissue enhanced
showing 60 of 74 HPA tissues / cells by nTPM:
| Tissue / cell | Axis | nTPM | Protein (IHC) |
|---|---|---|---|
| Testis | tissue | 72.4 | medium |
| Bone marrow | tissue | 42.4 | not detected |
| Thymus | tissue | 19.5 | |
| Stomach 1 | tissue | 19.4 | not detected |
| Nucleus accumbens | tissue | 19.1 | |
| Putamen | tissue | 17.9 | |
| Ventral pallidum | tissue | 17.8 | |
| Septum | tissue | 17.6 | |
| Choroid plexus | tissue | 17.4 | |
| Midbrain | tissue | 17.4 | |
| Cerebral cortex | tissue | 17.3 | medium |
| Superior colliculi | tissue | 17.3 | |
| Somatosensory cortex | tissue | 17.3 | |
| Occipital cortex | tissue | 17.3 | |
| Basal ganglia | tissue | 17.2 | high |
| Hypothalamus | tissue | 17.1 | |
| Skin 1 | tissue | 17.0 | low |
| Prefrontal cortex | tissue | 17.0 | |
| Motor cortex | tissue | 16.9 | |
| Postcentral gyrus | tissue | 16.9 | |
| Thalamus | tissue | 16.8 | |
| Hippocampus | tissue | 16.8 | low |
| Lymph node | tissue | 16.7 | medium |
| Pons | tissue | 16.5 | |
| Spinal cord | tissue | 16.4 | |
| Hippocampal formation | tissue | 16.1 | |
| Entorhinal cortex | tissue | 16.1 | |
| Spleen | tissue | 16.0 | low |
| Placenta | tissue | 15.9 | medium |
| Tonsil | tissue | 15.9 | low |
| Medulla oblongata | tissue | 15.7 | |
| Substantia nigra | tissue | 15.7 | |
| Cerebellum | tissue | 15.6 | high |
| Locus coeruleus | tissue | 15.5 | |
| Cingulate cortex | tissue | 15.5 | |
| Retrosplenial cortex | tissue | 15.3 | |
| Corpus callosum | tissue | 15.2 | |
| Temporal cortex | tissue | 15.1 | |
| Pituitary gland | tissue | 14.9 | |
| Periaqueductal gray | tissue | 14.8 | |
| Olfactory bulb | tissue | 13.9 | |
| Amygdala | tissue | 13.8 | |
| Cervix | tissue | 13.6 | not detected |
| Insular cortex | tissue | 13.6 | |
| Appendix | tissue | 13.5 | low |
| Vagina | tissue | 13.4 | not detected |
| Retina | tissue | 13.0 | |
| Breast | tissue | 12.8 | not detected |
| Adipose tissue | tissue | 12.5 | not detected |
| Colon | tissue | 12.5 | low |
| Urinary bladder | tissue | 12.3 | not detected |
| Prostate | tissue | 11.9 | low |
| Epididymis | tissue | 11.8 | not detected |
| Duodenum | tissue | 11.8 | medium |
| Esophagus | tissue | 11.7 | low |
| Rectum | tissue | 11.7 | not detected |
| Parathyroid gland | tissue | 11.5 | |
| Tongue | tissue | 11.3 | |
| Ovary | tissue | 11.1 | not detected |
| Skeletal muscle | tissue | 11.0 | not detected |
Brain sub-regions (HPA Brain Atlas): detected in 191; highest nTPM — Cerebellar cortex (28.7), Flocculonodular lobe (26.0), Vermis (25.3), Somatomor cortex, precentral gyrus (white matter) (21.2), Postcentral gyrus, middle (20.5).
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
Targeting VCF1 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).
showing 30 of 127 miRNAs:
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-6873-3P | 100.00 | 71.42 | 2626 |
| HSA-MIR-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-3162-3P | 100.00 | 65.37 | 363 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-4500 | 99.99 | 72.72 | 2367 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-LET-7A-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7B-5P | 99.98 | 72.31 | 1790 |
| HSA-LET-7C-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7E-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7F-5P | 99.98 | 72.56 | 1784 |
| HSA-LET-7G-5P | 99.98 | 72.37 | 1784 |
| HSA-LET-7I-5P | 99.98 | 72.37 | 1788 |
| HSA-MIR-98-5P | 99.98 | 72.33 | 1787 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-LET-7D-5P | 99.96 | 71.76 | 1632 |
| HSA-MIR-4458 | 99.96 | 71.64 | 1650 |
| HSA-MIR-335-3P | 99.93 | 73.36 | 4958 |
| HSA-MIR-381-3P | 99.93 | 71.87 | 2854 |
| HSA-MIR-6768-5P | 99.92 | 67.36 | 1942 |
| HSA-MIR-300 | 99.92 | 71.76 | 2856 |
| HSA-MIR-145-5P | 99.92 | 71.13 | 1836 |
| HSA-MIR-5195-3P | 99.92 | 70.92 | 1877 |
| HSA-MIR-5680 | 99.91 | 69.83 | 3421 |
| HSA-MIR-454-3P | 99.91 | 74.01 | 1925 |
| HSA-MIR-3671 | 99.90 | 73.04 | 3897 |
| HSA-MIR-6499-3P | 99.90 | 66.38 | 1212 |
| HSA-MIR-153-5P | 99.89 | 73.86 | 6317 |
| HSA-MIR-4697-3P | 99.89 | 67.09 | 1123 |
| HSA-MIR-30A-3P | 99.87 | 69.74 | 2928 |
Functional genomics
gnomAD constraint: pLI 2.89e-05, LOEUF 1.72, missense Z -1.19 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD
Regional missense constraint (gnomAD RMC): no regional variation along ENST00000405159 — one region, missense o/e 1.06.
Literature-anchored findings (GeneRIF, showing 1)
- The FAM104 proteins VCF1/2 promote the nuclear localization of p97/VCP. (PMID:37713320)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| rattus_norvegicus | Vcf1 | ENSRNOG00000002851 |
| drosophila_melanogaster | CG31898 | FBGN0051898 |
Mouse-model phenotypes
Observed phenotypes of the mouse ortholog (MGI:106351) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 2 distinct phenotype terms.
| Mouse phenotype (MP) | Records |
|---|---|
| abnormal behavior | 1 |
| increased circulating aspartate transaminase level | 1 |
Genomic neighbors (locus context)
Genes flanking this one on the chromosome (NCBI/Entrez gene neighborhood). Positional context only — some neighbors share regulatory elements (bidirectional promoters, antisense/overlapping transcripts), but chromosomal adjacency is not itself a functional relationship (see Interactions for that).
| Symbol | Type | Entrez |
|---|---|---|
| SDK2-AS1 | ncRNA | 101928251 |
| CDC42EP4 | protein-coding | 23580 |
| SDK2 | protein-coding | 54549 |
| MTNAP1 | protein-coding | 55028 |
| CPSF4L | protein-coding | 642843 |
| COG1 | protein-coding | 9382 |
| SSTR2 | protein-coding | 6752 |
| SLC39A11 | protein-coding | 201266 |
Protein
Protein identifiers
Protein VCF1 — Q969W3 (reviewed: Q969W3)
Alternative names: VCP nuclear cofactor family member 1
All UniProt accessions (4): J3KSI9, J3KT52, J3KT76, Q969W3
UniProt curated annotations — full annotation on UniProt →
Similarity. Belongs to the VCF family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q969W3-1 | 1 | yes |
| Q969W3-2 | 2 |
RefSeq proteins (5): NP_001092302, NP_001276339, NP_001276340, NP_001276341, NP_116226 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR029222 | VCF1/2-like | Family |
Pfam: PF15434
UniProt features (8 total): compositionally biased region 4, chain 1, region of interest 1, modified residue 1, splice variant 1
Structure
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q969W3-F1 | 62.96 | 0.10 |
Human Protein Atlas
Protein class: Predicted intracellular proteins
Protein evidence: Evidence at protein level
Subcellular location (HPA, imaging): nucleoplasm; cytosol
Antibody reliability (HPA): IH approved · IF approved
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (1)
| Type | Positions |
|---|---|
| Omega-n-methylarginine | 4 |
Function
Pathways and Gene Ontology
Reactome pathways
0 curated (TAS) of 0; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).
MSigDB gene sets: 130 (showing top):
RNGTGGGC_UNKNOWN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GTGCCTT_MIR506, ATTCTTT_MIR186, NIKOLSKY_BREAST_CANCER_17Q21_Q25_AMPLICON, TGCCTTA_MIR124A, ALCALA_APOPTOSIS, SCGGAAGY_ELK1_02, YOSHIMURA_MAPK8_TARGETS_DN, ATGAAGG_MIR205, GAGCCAG_MIR149, FEV_TARGET_GENES, IRF5_TARGET_GENES, NCOA2_TARGET_GENES, NFKBIA_TARGET_GENES
GO Molecular Function (1): protein binding (GO:0005515)
GO top-level categories
1 GO namespaces:
| Category | Terms |
|---|---|
| binding | 1 |
Protein interactions and networks
STRING
showing 15 of 276 interactions by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| VCF1 | CCDC127 | Q96BQ5 | 853 |
| VCF1 | SUPT7L | O94864 | 814 |
| VCF1 | CNOT10 | Q9H9A5 | 804 |
| VCF1 | TADA2B | Q86TJ2 | 792 |
| VCF1 | MTO1 | Q9Y2Z2 | 769 |
| VCF1 | XPNPEP1 | Q9NQW7 | 751 |
| VCF1 | AARS1 | P49588 | 731 |
| VCF1 | ASB7 | Q9H672 | 674 |
| VCF1 | CSNK2A2 | P19784 | 661 |
| VCF1 | ASB10 | Q8WXI3 | 494 |
| VCF1 | TBP | P20226 | 403 |
| VCF1 | AARS2 | Q5JTZ9 | 369 |
| VCF1 | SHISAL2A | Q6UWV7 | 364 |
| VCF1 | FAM209A | Q5JX71 | 303 |
| VCF1 | XPNPEP2 | O43895 | 302 |
IntAct
Human interaction partners of VCF1 in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).
5 partners by confidence:
| Partner | Interaction type | MIscore | Records |
|---|---|---|---|
| VCP | physical association | 0.850 | 9 |
| UBXN2B | physical association | 0.670 | 3 |
| PRKACA | physical association | 0.560 | 3 |
| SERPINH1 | physical association | 0.560 | 3 |
| TGFBR2 | physical association | 0.560 | 3 |
Disease & clinical
Genetic variants
Variant evidence for VCF1: 68 ClinVar records (0 pathogenic / likely pathogenic); 7 GWAS associations.
ClinVar
68 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 57 |
| Likely benign | 3 |
| Benign | 0 |
SpliceAI
Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 29 predictions of 372):
| Position(s) | Effect | Δscore | Sites |
|---|---|---|---|
| 17:73209769–73209770 | acceptor_loss | 1.0000 | 6 |
| 17:73227163–73227164 | donor_loss | 1.0000 | 6 |
| 17:73227265–73227266 | acceptor_loss | 0.9900 | 5 |
| 17:73232077 | donor_gain | 0.9900 | |
| 17:73232084–73232085 | donor_loss | 0.9900 | 5 |
| 17:73227165 | donor_loss | 0.9800 | 2 |
| 17:73227265 | acceptor_loss | 0.9800 | |
| 17:73227271 | acceptor_gain | 0.9700 | |
| 17:73227160 | donor_gain | 0.9600 | |
| 17:73227280 | acceptor_gain | 0.9400 |
AlphaMissense
211 missense substitutions predicted likely pathogenic (of 1,357 scored), across 56 residues. Top 20 hotspot residues, ranked by the number of likely-pathogenic substitutions (of those reachable by a single-nucleotide change), then by mean score:
| Residue | Likely-pathogenic substitutions | Mean am_pathogenicity | Max am_pathogenicity |
|---|---|---|---|
| H174 | 8 | 0.966 | 0.989 |
| N167 | 8 | 0.917 | 0.984 |
| S177 | 8 | 0.900 | 0.990 |
| F175 | 7 | 0.976 | 0.994 |
| I166 | 7 | 0.912 | 0.993 |
| K92 | 6 | 0.944 | 0.980 |
| K75 | 6 | 0.925 | 0.966 |
| R76 | 6 | 0.912 | 0.977 |
| R171 | 6 | 0.879 | 0.963 |
| A173 | 6 | 0.877 | 0.990 |
| E172 | 6 | 0.723 | 0.889 |
| Y163 | 5 | 0.944 | 0.972 |
| L170 | 5 | 0.939 | 0.991 |
| R93 | 5 | 0.899 | 0.965 |
| R74 | 5 | 0.849 | 0.892 |
| L178 | 5 | 0.834 | 0.982 |
| W104 | 5 | 0.831 | 0.904 |
| R78 | 5 | 0.819 | 0.906 |
| R77 | 5 | 0.767 | 0.889 |
| D105 | 5 | 0.734 | 0.844 |
HPA cancer prognostics
RNA cancer specificity: Low cancer specificity
Human Protein Atlas survival analysis — favorable = higher expression predicts better survival.
2 prognostic cancer types:
| Cancer | Prognostic | p-value |
|---|---|---|
| Liver Hepatocellular Carcinoma (TCGA) | unfavorable | 1.29e-07 |
| Prostate Adenocarcinoma (TCGA) | unfavorable | 0.00099 |
Disease associations
OMIM: gene MIM:621109 | disease phenotypes:
GWAS associations
7 associations:
| Study | Trait | p-value |
|---|---|---|
| GCST90002396_192 | Mean reticulocyte volume | 3e-22 |
| GCST90002397_48 | Mean spheric corpuscular volume | 1e-19 |
| GCST90002404_449 | Red cell distribution width | 1e-17 |
| GCST90002392_280 | Mean corpuscular volume | 2e-16 |
| GCST90002390_303 | Mean corpuscular hemoglobin | 6e-15 |
| GCST90002405_121 | Reticulocyte count | 9e-11 |
| GCST90002403_81 | Red blood cell count | 2e-10 |
EFO canonical traits (from GWAS)
5 canonical traits:
| EFO ID | Trait name |
|---|---|
| EFO:0004527 | mean corpuscular hemoglobin |
| EFO:0010701 | mean reticulocyte volume |
| EFO:0004305 | erythrocyte count |
| EFO:0009188 | Red cell distribution width |
| EFO:0007986 | reticulocyte count |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (CPIC guideline: no)
CTD chemical–gene interactions
14 total (human), top 14 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Air Pollutants | affects cotreatment, increases abundance, increases expression, decreases expression | 3 |
| Valproic Acid | affects expression, increases expression | 2 |
| Particulate Matter | decreases expression, increases abundance, increases expression | 2 |
| alpha-pinene | affects cotreatment, increases expression, increases abundance | 1 |
| methacrylaldehyde | affects cotreatment, increases expression, increases abundance | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| Acrolein | affects cotreatment, increases expression, increases abundance | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Cisplatin | affects cotreatment, increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Ozone | affects cotreatment, increases expression, increases abundance | 1 |
| Smoke | decreases expression | 1 |
| Cyclosporine | increases expression | 1 |
| Volatile Organic Compounds | affects cotreatment, increases expression | 1 |
Clinical trials (associated diseases)
Via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): COG1-congenital disorder of glycosylation