IFI27

Summary

IFI27 (interferon alpha inducible protein 27, HGNC:5397) is a protein-coding gene on chromosome 14q32.12, encoding Interferon alpha-inducible protein 27, mitochondrial (P40305). Probable adapter protein involved in different biological processes.

Enables several functions, including RNA polymerase II-specific DNA-binding transcription factor binding activity; identical protein binding activity; and lamin binding activity. Involved in several processes, including defense response to other organism; protein K48-linked ubiquitination; and pyroptotic inflammatory response. Acts upstream of or within negative regulation of transcription by RNA polymerase II and regulation of protein export from nucleus. Located in mitochondrial membrane and nuclear inner membrane. Is active in mitochondrion.

Source: NCBI Gene 3429 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 41 total
• MANE Select transcript: NM_001130080

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:5397
Approved symbol	IFI27
Name	interferon alpha inducible protein 27
Location	14q32.12
Locus type	gene with protein product
Status	Approved
Aliases	P27, FAM14D, ISG12
Ensembl gene	ENSG00000165949
Ensembl biotype	protein_coding
OMIM	600009
Entrez	3429

Gene structure

Transcript identifiers

Ensembl transcripts: 27 — 22 protein_coding, 4 retained_intron, 1 nonsense_mediated_decay

ENST00000555081, ENST00000557700, ENST00000611954, ENST00000612499, ENST00000612813, ENST00000614204, ENST00000614288, ENST00000614648, ENST00000616764, ENST00000618200, ENST00000618863, ENST00000620396, ENST00000621160, ENST00000858888, ENST00000858889, ENST00000858890, ENST00000858891, ENST00000858892, ENST00000858893, ENST00000858894, ENST00000858895, ENST00000858896, ENST00000858897, ENST00000858898, ENST00000858899, ENST00000965111, ENST00000965112

RefSeq mRNA: 6 — MANE Select: NM_001130080 NM_001130080, NM_001288952, NM_001288956, NM_001288959, NM_001366993, NM_001366994

CCDS: CCDS32148

Canonical transcript exons

ENST00000613997 — 0 exons

Expression profiles

Bgee: expression breadth ubiquitous, 134 present calls, max score 99.64.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 60.9378 / max 3504.2079, expressed in 1067 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
141203	60.9221	1067
141204	0.0157	6

Top tissues by expression

134 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
right lung	UBERON:0002167	99.64	gold quality
gall bladder	UBERON:0002110	99.61	gold quality
spleen	UBERON:0002106	99.59	gold quality
mucosa of transverse colon	UBERON:0004991	99.56	gold quality
apex of heart	UBERON:0002098	99.51	gold quality
upper lobe of left lung	UBERON:0008952	99.50	gold quality
right uterine tube	UBERON:0001302	99.35	gold quality
omental fat pad	UBERON:0010414	99.28	gold quality
adipose tissue	UBERON:0001013	99.25	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	99.25	gold quality
subcutaneous adipose tissue	UBERON:0002190	99.22	gold quality
rectum	UBERON:0001052	99.16	gold quality
thoracic mammary gland	UBERON:0005200	99.07	gold quality
transverse colon	UBERON:0001157	99.02	gold quality
placenta	UBERON:0001987	98.99	gold quality
fallopian tube	UBERON:0003889	98.97	gold quality
tibial nerve	UBERON:0001323	98.94	gold quality
right adrenal gland	UBERON:0001233	98.90	gold quality
left adrenal gland cortex	UBERON:0035825	98.88	gold quality
heart left ventricle	UBERON:0002084	98.86	gold quality
smooth muscle tissue	UBERON:0001135	98.83	gold quality
left adrenal gland	UBERON:0001234	98.82	gold quality
duodenum	UBERON:0002114	98.78	gold quality
small intestine Peyer’s patch	UBERON:0003454	98.77	gold quality
colonic epithelium	UBERON:0000397	98.76	gold quality
mucosa of stomach	UBERON:0001199	98.72	gold quality
small intestine	UBERON:0002108	98.71	gold quality
right adrenal gland cortex	UBERON:0035827	98.62	gold quality
substantia nigra	UBERON:0002038	98.56	gold quality
left uterine tube	UBERON:0001303	98.54	gold quality

Single-cell (SCXA)

Detected in 31 experiment(s), a significant marker in 29.

Experiment	Marker?	Max mean expression
E-CURD-126	yes	6363.40
E-MTAB-6308	yes	4639.47
E-MTAB-10287	yes	3423.12
E-GEOD-149689	yes	2676.33
E-HCAD-11	yes	2605.02
E-MTAB-8410	yes	2206.46
E-HCAD-1	yes	1609.60
E-GEOD-150728	yes	1512.33
E-MTAB-8495	yes	1415.27
E-MTAB-10885	yes	1373.93
E-MTAB-8559	yes	1344.74
E-GEOD-134144	yes	1238.34
E-MTAB-8207	yes	1024.20
E-GEOD-135922	yes	931.10
E-MTAB-9221	yes	430.09

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): FOXA1, FOXO3, IRF2, IRF6, STAT1, VDR

miRNA regulators (miRDB)

9 targeting IFI27, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-5002-5P	99.76	70.84	1763
HSA-MIR-3059-5P	99.70	69.93	2491
HSA-MIR-6513-5P	99.43	67.81	1071
HSA-MIR-942-5P	99.41	68.40	1977
HSA-MIR-331-3P	98.76	64.91	793
HSA-MIR-6780A-3P	98.42	67.49	1518
HSA-MIR-5589-5P	98.34	64.82	1148
HSA-MIR-6802-3P	97.29	65.42	613
HSA-MIR-597-3P	96.46	68.03	1035

Literature-anchored findings (GeneRIF, showing 36)

• Assessment of p21, p27, Bax, and cyclin E expression in tumor tissues have been reported to be useful as prognostic factors in head and neck squamous cell carcinoma. (PMID:14719078)
• Upregulated in whole blood of infants hospitalised with respiratory syncytial virus (RSV), subtype B, bronchiolitis. (PMID:17166282)
• REsults describe the differential regulation of the interferon induced gene ISG12A by serum from healthy and preeclamptic pregnancies. (PMID:18329281)
• data suggest that ISG12a contributes to IFN-dependent perturbation of normal mitochondrial function, thus adding ISG12a to a growing list of IFN-induced proteins that impact cellular apoptosis. (PMID:18330707)
• five genes (TNFSF10/TRAIL, IL1RN, IFI27, GZMB, and CCR5) were upregulated and three genes (CLK1, TNFAIP3 and BTG1) were downregulated in at least three out of four subpopulations during acute GVHD. (PMID:18814951)
• We identify IFI27, CCL2 and CXCL10 as sensitive biomarkers for the response of multiple sclerosis patients to IFN-beta. (PMID:19558503)
• IFI27 may be a novel biomarker of disease activity and tumor burden in patients with chronic myeloproliferative neoplasms (PMID:21447007)
• Patients with atypical teratoid/rhabdoid tumors show high p27 expression when angiogenesis and density of newly formed blood vessels were investigated. (PMID:22309998)
• interferon alpha-inducible protein 27 (IFI27) transcription stimulation was weaker in leiomyoma than myometrial cells (PMID:22320196)
• Identify a feedback loop activated by interferons via interferon stimulated gene 12 that inhibits the vasculoprotective functions of NR4A1 nuclear receptors. (PMID:22427340)
• After inhibiting the autophagy, the expression of interferon b1 and IFI27 were decreased. (PMID:23383510)
• Alterations in mechanisms associated with immune response and mitochondrial function that explain the up-regulation of IFI27 may provide an understanding of the pathways related to the intensification of fatigue during localized radiation therapy. (PMID:23959120)
• MiR-942 regulates hepatitis c virus-induced apoptosis of human hepatocytes by targeting ISG12a. (PMID:24727952)
• Data indicate that AKT control TRAIL resistance of cancer cells through downregulation of interferon stimulated gene 12a (ISG12a) by MicroRNA-942 (miR-942). (PMID:24970806)
• These results suggest that high basal ISG12a may inhibit Newcastle disease virus replication and oncolysis, while low basal ISG12a may allow sufficient Newcastle disease virus replication for induction of ISG12a. (PMID:24999841)
• We found that IFI27 is overexpressed in ovarian cancer and associated with patients’ survival. (PMID:25103640)
• IFI27 is involved in proliferation of skin keratinocytes both in vitro and in vivo. (PMID:25664647)
• IFI27 mRNA level is reduced in peripheral blood mononuclear cells of immunoglobulin A nephropathy and membranous nephropathy patients. (PMID:27100186)
• the ISG12 family of proteins has an important role for the apoptotic properties induced by type 1 interferon. (PMID:27673746)
• ISG12a inhibited HCV replication and potentiated the anti-HCV activity of IFN-alpha possibly through induced production of type I IFNs and activation of Jak/STAT signaling pathway independent of autophagy and cell apoptosis. (PMID:27777077)
• IFI27 was expressed in Influenza patients but not in Bacterial Respiratory Infection. IFI27 displayed 88% diagnostic accuracy (AUC) and 90% specificity in discriminating between Influenza and Bacterial Infections. (PMID:28619954)
• NEAT1 and the coding gene IFI27 were highly co-expressed and negatively correlated with dengue severity. Monitoring NEAT1and IFI27 expression in PBMC may be useful in understanding dengue virus-induced disease progression. (PMID:29031635)
• High IFI27 expression is associated with invasion in oral squamous cell carcinoma. (PMID:29580248)
• Expression of IFI27 could differentiate athletes reporting upper respiratory symptoms from asymptomatic athletes (PMID:32139349)
• The innate immune effector ISG12a promotes cancer immunity by suppressing the canonical Wnt/beta-catenin signaling pathway. (PMID:32963356)
• IFI27/ISG12 Downregulates Estrogen Receptor alpha Transactivation by Facilitating Its Interaction With CRM1/XPO1 in Breast Cancer Cells. (PMID:33117284)
• IFI27 may predict and evaluate the severity of respiratory syncytial virus infection in preterm infants. (PMID:33388093)
• ATF3 downmodulates its new targets IFI6 and IFI27 to suppress the growth and migration of tongue squamous cell carcinoma cells. (PMID:33539340)
• Interferon alpha-inducible protein 27 (IFI27) is a prognostic marker for pancreatic cancer based on comprehensive bioinformatics analysis. (PMID:34592906)
• PABPC1-induced stabilization of IFI27 mRNA promotes angiogenesis and malignant progression in esophageal squamous cell carcinoma through exosomal miRNA-21-5p. (PMID:35346324)
• ScRNA-seq expression of IFI27 and APOC2 identifies four alveolar macrophage superclusters in healthy BALF. (PMID:35820705)
• MiR-942-5p targeting the IFI27 gene regulates HCT-8 cell apoptosis via a TRAIL-dependent pathway during the early phase of Cryptosporidium parvum infection. (PMID:35974384)
• IFI27 transcription is an early predictor for COVID-19 outcomes, a multi-cohort observational study. (PMID:36685600)
• Knockdown of NEAT1 restricts dengue virus replication by augmenting interferon alpha-inducible protein 27 via the RIG-I pathway. (PMID:36748518)
• Integrative bulk and single-cell transcriptome profiling analysis reveals IFI27 as a novel interferon-stimulated gene in dengue. (PMID:36971141)
• Behcet syndrome: The disturbed balance between anti- (CLEC12A, CLC) and proinflammatory (IFI27) gene expressions. (PMID:37102643)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
danio_rerio	ifi27.6	ENSDARG00000074754
danio_rerio	ifi27.4	ENSDARG00000078389

Paralogs (3): IFI27L2 (ENSG00000119632), IFI6 (ENSG00000126709), IFI27L1 (ENSG00000165948)

Protein

Protein identifiers

Interferon alpha-inducible protein 27, mitochondrial — P40305 (reviewed: P40305)

Alternative names: Interferon alpha-induced 11.5 kDa protein, Interferon-stimulated gene 12a protein

All UniProt accessions (6): A0A087WUJ8, P40305, A0A087WV79, A0A087X035, A0A087X174, A0A5H1ZRT4

UniProt curated annotations — full annotation on UniProt →

Function. Probable adapter protein involved in different biological processes. Part of the signaling pathways that lead to apoptosis. Involved in type-I interferon-induced apoptosis characterized by a rapid and robust release of cytochrome C from the mitochondria and activation of BAX and caspases 2, 3, 6, 8 and 9. Also functions in TNFSF10-induced apoptosis. May also have a function in the nucleus, where it may be involved in the interferon-induced negative regulation of the transcriptional activity of NR4A1, NR4A2 and NR4A3 through the enhancement of XPO1-mediated nuclear export of these nuclear receptors. May thereby play a role in the vascular response to injury. In the innate immune response, has an antiviral activity towards hepatitis C virus/HCV. May prevent the replication of the virus by recruiting both the hepatitis C virus non-structural protein 5A/NS5A and the ubiquitination machinery via SKP2, promoting the ubiquitin-mediated proteasomal degradation of NS5A. Also promotes virus-induced pyroptosis by activating CASP3 in the mitochondria after ‘Lys-6’-linked ubiquitination by TRIM21.

Subunit / interactions. Homodimer. Interacts with hepatitis C virus/HCV non-structural protein NS5A; promotes the ubiquitin-mediated proteasomal degradation of NS5A. Interacts with SKP2; promotes the ubiquitin-mediated proteasomal degradation of NS5A. Interacts with NR4A1. May interact with BCL2.

Subcellular location. Mitochondrion membrane. Nucleus inner membrane. Endoplasmic reticulum membrane.

Post-translational modifications. Ubiquitinated by TRIM21 via ‘Lys-6’-linked ubiquitin chains leading to IFI27 mitochondrial migration.

Induction. Up-regulated by type-I and type-II interferons.

Miscellaneous. Major isoform in blood and cervix.

Similarity. Belongs to the IFI6/IFI27 family.

Isoforms (4)

UniProt ID	Names	Canonical?
P40305-2	1, ISG12, ISG12A	yes
P40305-1	2, ISG12delta, ISG12Adelta
P40305-3	3, ISG12-S, ISG12A-S
P40305-4	4, ISG12-Sdelta, ISG12A-Sdelta

RefSeq proteins (6): NP_001123552, NP_001275881, NP_001275885, NP_001275888, NP_001353922, NP_001353923 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR009311	IFI6/IFI27-like	Family
IPR038213	IFI6/IFI27-like_sf	Homologous_superfamily

Pfam: PF06140

UniProt features (16 total): splice variant 3, mutagenesis site 3, transmembrane region 3, region of interest 2, transit peptide 1, chain 1, sequence variant 1, sequence conflict 1, cross-link 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P40305-F1	54.02	0.00

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): 69

Mutagenesis-validated functional residues (3):

Position	Phenotype
56	increased pro-apoptotic activity; when associated with d-96.
69	complete loss of trim21-mediated ubiquitination.
96	increased pro-apoptotic activity; when associated with d-56.

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-909733	Interferon alpha/beta signaling
R-HSA-9909505	Modulation of host responses by IFN-stimulated genes

MSigDB gene sets: 419 (showing top): MODULE_52, TSUNODA_CISPLATIN_RESISTANCE_UP, WALLACE_PROSTATE_CANCER_RACE_UP, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM, GOBP_INFLAMMATORY_RESPONSE, GOBP_RESPONSE_TO_PEPTIDE, BECKER_TAMOXIFEN_RESISTANCE_UP, GOZGIT_ESR1_TARGETS_DN, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_UP, GRAESSMANN_RESPONSE_TO_MC_AND_SERUM_DEPRIVATION_UP, GOBP_RESPONSE_TO_TYPE_I_INTERFERON, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_REGULATION_OF_PROTEIN_EXPORT_FROM_NUCLEUS, GOBP_EXTRINSIC_APOPTOTIC_SIGNALING_PATHWAY

GO Biological Process (13): negative regulation of transcription by RNA polymerase II (GO:0000122), apoptotic process (GO:0006915), proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161), host-mediated perturbation of viral genome replication (GO:0044827), innate immune response (GO:0045087), regulation of protein export from nucleus (GO:0046825), defense response to virus (GO:0051607), type I interferon-mediated signaling pathway (GO:0060337), pyroptotic inflammatory response (GO:0070269), protein K48-linked ubiquitination (GO:0070936), extrinsic apoptotic signaling pathway (GO:0097191), intrinsic apoptotic signaling pathway (GO:0097193), immune system process (GO:0002376)

GO Molecular Function (5): lamin binding (GO:0005521), identical protein binding (GO:0042802), molecular adaptor activity (GO:0060090), RNA polymerase II-specific DNA-binding transcription factor binding (GO:0061629), protein binding (GO:0005515)

GO Cellular Component (9): nuclear envelope (GO:0005635), nuclear inner membrane (GO:0005637), mitochondrion (GO:0005739), mitochondrial outer membrane (GO:0005741), endoplasmic reticulum membrane (GO:0005789), mitochondrial membrane (GO:0031966), nucleus (GO:0005634), endoplasmic reticulum (GO:0005783), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Interferon Signaling	2

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
apoptotic signaling pathway	3
intracellular membrane-bounded organelle	3
protein binding	2
binding	2
endomembrane system	2
cytoplasm	2
organelle membrane	2
regulation of transcription by RNA polymerase II	1
transcription by RNA polymerase II	1
negative regulation of DNA-templated transcription	1
programmed cell death	1
execution phase of apoptosis	1
ubiquitin-dependent protein catabolic process	1
proteasomal protein catabolic process	1
host-mediated perturbation of viral process	1
immune response	1
defense response to symbiont	1
protein export from nucleus	1
regulation of intracellular protein transport	1
regulation of nucleocytoplasmic transport	1
defense response	1
response to virus	1
cellular response to type I interferon	1
interferon-mediated signaling pathway	1
inflammatory response	1
protein polyubiquitination	1
cell surface receptor signaling pathway	1
intracellular signal transduction	1
biological_process	1
molecular_function	1
DNA-binding transcription factor binding	1
nucleus	1
organelle envelope	1
organelle inner membrane	1
nuclear membrane	1
mitochondrial membrane	1
organelle outer membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
mitochondrion	1

Protein interactions and networks

STRING

1336 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
IFI27	IFI44L	Q53G44	894
IFI27	IFITM1	P13164	870
IFI27	ISG15	P05161	858
IFI27	RSAD2	Q8WXG1	826
IFI27	IFIT1	P09914	824
IFI27	MX1	P20591	823
IFI27	OAS1	P00973	814
IFI27	IFIT3	O14879	800
IFI27	OASL	Q15646	785
IFI27	IFI44	Q8TCB0	769
IFI27	OAS3	Q9Y6K5	757
IFI27	IFITM3	Q01628	730
IFI27	OAS2	P29728	723
IFI27	IRF9	Q00978	701
IFI27	XAF1	Q6GPH4	696

IntAct

16 interactions, top by confidence:

A	B	Type	Score
TFAP2A	IFI27	psi-mi:“MI:0915”(physical association)	0.370
TFAP2C	IFI27	psi-mi:“MI:0915”(physical association)	0.370
	IFI27	psi-mi:“MI:0915”(physical association)	0.000
ezrA	IFI27	psi-mi:“MI:0915”(physical association)	0.000
IFI27		psi-mi:“MI:0915”(physical association)	0.000
IFI27	mdtB	psi-mi:“MI:0915”(physical association)	0.000
yopM	IFI27	psi-mi:“MI:0915”(physical association)	0.000
IFI27	nifJ	psi-mi:“MI:0915”(physical association)	0.000
IFI27	maeA	psi-mi:“MI:0915”(physical association)	0.000
glsA1	IFI27	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (16): IFI27 (Affinity Capture-Western), HCVgp1 (Affinity Capture-Western), SKP2 (Affinity Capture-Western), IFI27 (Affinity Capture-Western), IFI27 (Synthetic Lethality), IFI27 (Affinity Capture-MS), APOC2 (Two-hybrid), APOC4 (Two-hybrid), IFI27 (Affinity Capture-MS), TRIM21 (Affinity Capture-MS), TRIM21 (Affinity Capture-Western), IFI27 (Affinity Capture-Western), IFI27 (Affinity Capture-Western), IFIH1 (Affinity Capture-Western), IFI27 (Affinity Capture-Western)

ESM2 similar proteins: A0A348G5V9, A0A8U0LTY4, A0L9X3, A5H1G9, B2MVM5, B3A0M9, C0HL87, C0HLR2, O26106, O26107, O31557, O80298, O96059, P03625, P03674, P09912, P0DSK5, P0DSK6, P0DTW2, P0DY15, P11128, P34327, P34677, P40305, P40843, P82818, P82827, P82846, P86016, P86018, P86155, Q18EC3, Q22252, Q24JY7, Q28808, Q2W8J4, Q2W8R7, Q2W8S0, Q47108, Q6IED8

Diamond homologs: P09912, P40305, Q28808, Q6IED8, Q8R412, Q8VC49, Q96BM0, Q24JY7, Q9H2X8

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

41 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	18
Likely benign	3
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

877 predictions. Top by Δscore:

Variant	Effect	Δscore
14:94115776:TGCA:T	acceptor_loss	1.0000
14:94115779:A:AG	acceptor_gain	1.0000
14:94115779:AGTTG:A	acceptor_loss	1.0000
14:94115780:G:GC	acceptor_gain	1.0000
14:94115780:GTT:G	acceptor_gain	1.0000
14:94115780:GTTGT:G	acceptor_gain	1.0000
14:94115938:ACTGG:A	donor_gain	1.0000
14:94115939:CTGG:C	donor_gain	1.0000
14:94115940:TGG:T	donor_gain	1.0000
14:94115940:TGGG:T	donor_loss	1.0000
14:94115941:GG:G	donor_gain	1.0000
14:94115941:GGG:G	donor_gain	1.0000
14:94115941:GGGT:G	donor_loss	1.0000
14:94115942:GG:G	donor_gain	1.0000
14:94115943:G:GG	donor_gain	1.0000
14:94115943:GT:G	donor_loss	1.0000
14:94110781:G:GT	donor_gain	0.9900
14:94115779:AGTT:A	acceptor_gain	0.9900
14:94115780:GT:G	acceptor_gain	0.9900
14:94115780:GTTG:G	acceptor_gain	0.9900
14:94116440:A:AG	acceptor_gain	0.9900
14:94116441:G:GG	acceptor_gain	0.9900
14:94110782:A:T	donor_gain	0.9800
14:94110796:GG:G	donor_gain	0.9800
14:94110797:GG:G	donor_gain	0.9800
14:94110797:GGT:G	donor_loss	0.9800
14:94110798:G:GG	donor_gain	0.9800
14:94110798:GTAAG:G	donor_loss	0.9800
14:94110799:T:TC	donor_loss	0.9800
14:94110979:G:GG	donor_gain	0.9800

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000071396 (14:94108082 T>A), RS1000245040 (14:94114174 A>G), RS1000460540 (14:94113637 G>A), RS1001524563 (14:94112714 A>C,G), RS1001756365 (14:94112601 G>A,C), RS1001909005 (14:94111259 T>A), RS1001975008 (14:94112320 T>C), RS1001984958 (14:94106666 T>A), RS1002256642 (14:94111430 T>C), RS1002632316 (14:94116087 G>A), RS1002762458 (14:94111335 G>C), RS1003466386 (14:94105684 G>A), RS1003530787 (14:94110367 C>G,T), RS1003707286 (14:94104401 G>A), RS1003759501 (14:94104165 A>C)

Disease associations

OMIM: gene MIM:600009 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

87 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	increases methylation, decreases reaction, increases expression	4
Tetrachlorodibenzodioxin	decreases expression, affects cotreatment, increases expression	4
Particulate Matter	decreases reaction, increases abundance, increases expression, decreases expression	4
sodium arsenite	decreases expression, increases expression	3
Acetaminophen	decreases expression, affects cotreatment	3
Smoke	decreases expression, decreases reaction, increases abundance	3
Decitabine	decreases expression, decreases reaction, increases expression	2
Air Pollutants	decreases expression, increases abundance	2
Vehicle Emissions	decreases expression, decreases reaction, increases abundance, increases expression	2
Chenodeoxycholic Acid	affects cotreatment, decreases expression, increases expression	2
Deoxycholic Acid	affects cotreatment, decreases expression, increases expression	2
Estradiol	increases expression, affects cotreatment	2
Glycochenodeoxycholic Acid	affects cotreatment, decreases expression, increases expression	2
Glycocholic Acid	affects cotreatment, decreases expression, increases expression	2
Glycodeoxycholic Acid	affects cotreatment, decreases expression, increases expression	2
Nicotine	decreases reaction, increases expression	2
Silicon Dioxide	decreases expression, increases expression	2
Tobacco Smoke Pollution	affects expression, decreases expression	2
Cadmium Chloride	decreases expression, increases abundance	2
aristolochic acid I	increases expression	1
3,19-(2-bromobenzylidene)andrographolide	decreases response to substance, increases expression	1
testosterone enanthate	affects expression	1
chlorophyllin	decreases reaction, increases expression	1
cinnamaldehyde	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
butyraldehyde	increases expression	1
nickel chloride	increases expression, decreases reaction	1
S-(1,2-dichlorovinyl)cysteine	decreases reaction, increases expression	1
7,7’-dimethoxy-(4,4’-bi-1,3-benzodioxole)-5,5’-dicarboxylic acid dimethyl ester	increases expression	1
N,N,N’,N’-tetrakis(2-pyridylmethyl)ethylenediamine	increases expression	1

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_B1FQ	Abcam A-549 IFI27 KO	Cancer cell line	Male
CVCL_F1U3	HyCyte THP-1 KO-hIFI27	Cancer cell line	Male

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.