IFI6

Summary

IFI6 (interferon alpha inducible protein 6, HGNC:4054) is a protein-coding gene on chromosome 1p35.3, encoding Interferon alpha-inducible protein 6 (P09912). Interferon-stimulated protein that plays an important role in innate immune response against a wide variety of viruses.

This gene was first identified as one of the many genes induced by interferon. The encoded protein may play a critical role in the regulation of apoptosis. A minisatellite that consists of 26 repeats of a 12 nucleotide repeating element resembling the mammalian splice donor consensus sequence begins near the end of the second exon. Alternatively spliced transcript variants that encode different isoforms by using the two downstream repeat units as splice donor sites have been described.

Source: NCBI Gene 2537 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 43 total — 1 pathogenic
• MANE Select transcript: NM_002038

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:4054
Approved symbol	IFI6
Name	interferon alpha inducible protein 6
Location	1p35.3
Locus type	gene with protein product
Status	Approved
Aliases	IFI616, FAM14C, 6-16, IFI-6-16
Ensembl gene	ENSG00000126709
Ensembl biotype	protein_coding
OMIM	147572
Entrez	2537

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 4 protein_coding

ENST00000339145, ENST00000361157, ENST00000362020, ENST00000679644

RefSeq mRNA: 3 — MANE Select: NM_002038 NM_002038, NM_022872, NM_022873

CCDS: CCDS306, CCDS307, CCDS308

Canonical transcript exons

ENST00000361157 — 5 exons

Exon	Start	End
ENSE00000866724	27668458	27668535
ENSE00000866725	27668226	27668375
ENSE00001435495	27669245	27669346
ENSE00001462098	27672123	27672192
ENSE00001810666	27666064	27666475

Expression profiles

Bgee: expression breadth ubiquitous, 245 present calls, max score 98.98.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 284.9239 / max 13278.6186, expressed in 1802 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
11300	283.9236	1802
11299	1.0003	333

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
adenohypophysis	UBERON:0002196	98.98	gold quality
descending thoracic aorta	UBERON:0002345	98.28	gold quality
right lung	UBERON:0002167	98.21	gold quality
monocyte	CL:0000576	98.06	gold quality
right adrenal gland	UBERON:0001233	97.93	gold quality
pituitary gland	UBERON:0000007	97.91	gold quality
right adrenal gland cortex	UBERON:0035827	97.76	gold quality
right coronary artery	UBERON:0001625	97.73	gold quality
periodontal ligament	UBERON:0008266	97.73	gold quality
right uterine tube	UBERON:0001302	97.64	gold quality
leukocyte	CL:0000738	97.50	gold quality
granulocyte	CL:0000094	97.49	gold quality
mononuclear cell	CL:0000842	97.43	gold quality
left lobe of thyroid gland	UBERON:0001120	97.41	gold quality
left adrenal gland	UBERON:0001234	97.40	gold quality
apex of heart	UBERON:0002098	97.34	gold quality
left adrenal gland cortex	UBERON:0035825	97.28	gold quality
thoracic aorta	UBERON:0001515	97.26	gold quality
ascending aorta	UBERON:0001496	97.20	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	97.20	gold quality
upper lobe of left lung	UBERON:0008952	97.10	gold quality
decidua	UBERON:0002450	96.90	gold quality
adrenal cortex	UBERON:0001235	96.80	gold quality
right lobe of thyroid gland	UBERON:0001119	96.79	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	96.71	gold quality
right frontal lobe	UBERON:0002810	96.66	gold quality
left coronary artery	UBERON:0001626	96.43	gold quality
amygdala	UBERON:0001876	96.38	gold quality
putamen	UBERON:0001874	96.15	gold quality
upper lobe of lung	UBERON:0008948	96.10	gold quality

Single-cell (SCXA)

Detected in 27 experiment(s), a significant marker in 24.

Experiment	Marker?	Max mean expression
E-HCAD-13	yes	8147.25
E-MTAB-9435	yes	6788.50
E-HCAD-24	yes	6520.88
E-MTAB-6701	yes	4531.22
E-HCAD-23	yes	2937.57
E-ENAD-20	yes	2891.15
E-MTAB-9467	yes	2227.36
E-MTAB-7037	yes	1852.06
E-CURD-53	yes	1790.25
E-GEOD-139324	yes	1616.84
E-HCAD-8	yes	1570.33
E-MTAB-8559	yes	1452.05
E-GEOD-149689	yes	1394.23
E-CURD-95	yes	1091.66
E-GEOD-106540	yes	869.05

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): STAT1

miRNA regulators (miRDB)

33 targeting IFI6, 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-3613-3P	100.00	76.36	7965
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-548AN	99.97	70.91	2817
HSA-MIR-338-5P	99.92	72.34	2951
HSA-MIR-6499-3P	99.90	66.38	1212
HSA-MIR-6780A-5P	99.88	66.69	2776
HSA-MIR-1273H-5P	99.77	66.32	2471
HSA-MIR-3150A-3P	99.76	64.44	1640
HSA-MIR-6763-5P	99.76	64.68	1767
HSA-MIR-4524A-3P	99.72	66.85	2406
HSA-MIR-30B-3P	99.70	65.76	2325
HSA-MIR-3689A-3P	99.70	65.73	2306
HSA-MIR-3689B-3P	99.70	65.71	2311
HSA-MIR-3689C	99.70	65.71	2311
HSA-MIR-6779-5P	99.70	65.76	2363
HSA-MIR-3175	99.65	66.30	2031
HSA-MIR-3975	99.62	65.97	697
HSA-MIR-6799-5P	99.14	65.72	2093
HSA-MIR-6776-5P	98.54	67.43	1304
HSA-MIR-4782-5P	98.35	69.33	1474
HSA-MIR-5706	98.35	69.33	1463
HSA-MIR-12126	98.09	64.82	637
HSA-MIR-4778-5P	97.96	68.06	1634
HSA-MIR-4314	97.50	67.30	1369
HSA-MIR-3116	97.07	65.78	1324
HSA-MIR-6839-5P	96.74	68.29	1088

Literature-anchored findings (GeneRIF, showing 21)

• G1P3 protein may have function as a cell survival protein by inhibiting mitochondrial-mediated apoptosis (PMID:15685448)
• IFN-alpha2b induced the expression of G1P3 and antagonized the TRAIL induced apoptosis in myeloma suggesting that either the deregulated or the induced expression of G1P3 could lead to apoptosis resistance in tumor cells. (PMID:17823654)
• Respiratory syncytial virus upregulated the mRNA expression of chemokines CC and CXC and interfered with type alpha/beta interferon-inducible gene expression by upregulation of MG11 and downregulation of G1P3. (PMID:18838000)
• PRINS regulates G1P3, a gene with anti-apoptotic effects in keratinocytes. siRNA-mediated inhibition of PRINS gene resulted in altered cell morphology and gene expression alterations. (PMID:20377629)
• Here we elucidate G1P3, a survival protein induced by interferons (IFNs), as a target of estrogen signaling and a contributor to poor outcomes in estrogen receptor-positive (ER(+)) breast cancer. (PMID:21996729)
• IFI6 inhibits HCV entry by impairing EGFR mediated CD81/CLDN1 interactions. This may be relevant to other virus entry processes employing EGFR. (PMID:25757571)
• In conclusion, over-expression of IFI6 promotes hepatitis C virus RNA replication and rescues the interferon alpha-mediated anti-hepatitis C virus activity. (PMID:26105982)
• In insulitic islets from living patients with recent-onset T1D, most of the overexpressed ISGs, including GBP1, TLR3, OAS1, EIF2AK2, HLA-E, IFI6, and STAT1, showed higher expression in the islet core compared with the peri-islet area containing the surrounding immune cells (PMID:27422384)
• Data suggest that p7 is a critical immune evasion protein that suppresses the antiviral interferon function by counteracting the function of IFI6-16. (PMID:28159892)
• Consequent to its localisation on inner-mitochondrial membrane, mtROS were higher in G1P3-expressing cells (MCF-7G1P3). This study identified that G1P3-induced mtROS have a direct role in migratory structure formation and nuclear gene expression to promote breast cancer cell metastasis. (PMID:29899394)
• G1P3-induced mtROS have a direct role in migratory structure formation and nuclear gene expression to promote breast cancer cell metastasis. Therefore, interrupting mitochondrial functions of G1P3 may improve clinical outcomes in breast cancer patients (PMID:29899394)
• Flavivirus replication at the ER is targeted by the interferon (IFN) response. Interferon alpha inducible protein 6 (IFI6) is an endoplasmic reticulum (ER)-localized integral membrane effector that is stabilized through interactions with the ER-resident heat shock protein 70 chaperone BiP. IFI6 prophylactically protects uninfected cells by preventing the formation of virus-induced ER membrane invaginations. (PMID:30224801)
• IFI6 depletion inhibits esophageal squamous cell carcinoma progression through reactive oxygen species accumulation via mitochondrial dysfunction and endoplasmic reticulum stress. (PMID:32727517)
• Interferon-alpha inducible protein 6 (IFI6) confers protection against ionizing radiation in skin cells. (PMID:33059972)
• ATF3 downmodulates its new targets IFI6 and IFI27 to suppress the growth and migration of tongue squamous cell carcinoma cells. (PMID:33539340)
• The Functional and Antiviral Activity of Interferon Alpha-Inducible IFI6 Against Hepatitis B Virus Replication and Gene Expression. (PMID:33868257)
• IDO1, FAT10, IFI6, and GILT Are Involved in the Antiretroviral Activity of gamma-Interferon and IDO1 Restricts Retrovirus Infection by Autophagy Enhancement. (PMID:35883685)
• Interferon alpha inducible protein 6 is a negative regulator of innate immune responses by modulating RIG-I activation. (PMID:36793726)
• The role of glucose-dependent insulinotropic polypeptide 3 (G1P-3) and nucleolar phosphoprotein-1 (NPM1) in pathogenesis of psoriasis. (PMID:37067145)
• Role of interferon alpha-inducible protein 6 in modulating the proliferation, apoptosis and senescence of oesophageal squamous cell carcinoma cells. (PMID:37661181)
• BM-MSCs display altered gene expression profiles in B-cell acute lymphoblastic leukemia niches and exert pro-proliferative effects via overexpression of IFI6. (PMID:37670388)

Cross-species orthologs

2 orthologs

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

Paralogs (3): IFI27L2 (ENSG00000119632), IFI27L1 (ENSG00000165948), IFI27 (ENSG00000165949)

Protein

Protein identifiers

Interferon alpha-inducible protein 6 — P09912 (reviewed: P09912)

Alternative names: Interferon-induced protein 6-16

All UniProt accessions (2): P09912, A0A348GSI1

UniProt curated annotations — full annotation on UniProt →

Function. Interferon-stimulated protein that plays an important role in innate immune response against a wide variety of viruses. Inhibits flavivirus replication by preventing the formation of virus-induced endoplasmic reticulum membrane invaginations, which are double-membrane vesicles that flaviviruses use for their replication. Has an antiviral activity towards hepatitis C virus/HCV by inhibiting the EGFR signaling pathway, whose activation is required for entry of the virus into cells. Within the nucleus, restricts hepatitis B virus/HBV promoter activity leading to substantial reduction of viral replication and gene expression. Plays a role in apoptosis, negatively regulating the intrinsinc apoptotic signaling pathway and TNFSF10-induced apoptosis. However, it has also been shown to have a pro-apoptotic activity. Modulates innate immune response mediated by RIGI by preventing its activation.

Subunit / interactions. Interacts with CIB1; the interaction is direct. Interacts with the chaperone BIP/HSPA5. Interacts with RIGI.

Subcellular location. Endoplasmic reticulum membrane. Mitochondrion inner membrane.

Post-translational modifications. Glycosylated.

Induction. Up-regulated by type-I interferon. Up-regulated upon Dengue virus type 2/DENV2 infection (at protein level).

Similarity. Belongs to the IFI6/IFI27 family.

Isoforms (3)

UniProt ID	Names	Canonical?
P09912-1	A	yes
P09912-2	B
P09912-3	C

RefSeq proteins (3): NP_002029, NP_075010, NP_075011 (=MANE)

Domains & families (InterPro)

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

Pfam: PF06140

UniProt features (9 total): transmembrane region 4, splice variant 2, sequence conflict 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P09912-F1	54.92	0.00

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: 341 (showing top): GOBP_MEMBRANE_DEPOLARIZATION, HONMA_DOCETAXEL_RESISTANCE, WALLACE_PROSTATE_CANCER_RACE_UP, GOBP_CELLULAR_RESPONSE_TO_VIRUS, GOBP_REGULATION_OF_ERBB_SIGNALING_PATHWAY, REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM, BECKER_TAMOXIFEN_RESISTANCE_UP, GOZGIT_ESR1_TARGETS_DN, GOBP_EXTRINSIC_APOPTOTIC_SIGNALING_PATHWAY, BROWNE_HCMV_INFECTION_16HR_UP, GOBP_REGULATION_OF_MEMBRANE_DEPOLARIZATION, GOBP_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION, TONKS_TARGETS_OF_RUNX1_RUNX1T1_FUSION_ERYTHROCYTE_UP, GOBP_NEGATIVE_REGULATION_OF_EXTRINSIC_APOPTOTIC_SIGNALING_PATHWAY, GOBP_REGULATION_OF_MITOCHONDRION_ORGANIZATION

GO Biological Process (13): apoptotic process (GO:0006915), immune response (GO:0006955), regulation of epidermal growth factor receptor signaling pathway (GO:0042058), negative regulation of apoptotic process (GO:0043066), innate immune response (GO:0045087), defense response to virus (GO:0051607), negative regulation of mitochondrial depolarization (GO:0051902), reactive oxygen species metabolic process (GO:0072593), negative regulation of release of cytochrome c from mitochondria (GO:0090201), intrinsic apoptotic signaling pathway (GO:0097193), cellular response to virus (GO:0098586), negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240), immune system process (GO:0002376)

GO Molecular Function (2): molecular adaptor activity (GO:0060090), protein binding (GO:0005515)

GO Cellular Component (8): mitochondrion (GO:0005739), mitochondrial outer membrane (GO:0005741), mitochondrial inner membrane (GO:0005743), endoplasmic reticulum membrane (GO:0005789), plasma membrane (GO:0005886), mitochondrial membrane (GO:0031966), 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	2
response to virus	2
binding	2
cytoplasm	2
intracellular membrane-bounded organelle	2
mitochondrial membrane	2
organelle membrane	2
programmed cell death	1
execution phase of apoptosis	1
immune system process	1
response to stimulus	1
epidermal growth factor receptor signaling pathway	1
regulation of ERBB signaling pathway	1
apoptotic process	1
regulation of apoptotic process	1
negative regulation of programmed cell death	1
immune response	1
defense response to symbiont	1
defense response	1
mitochondrial depolarization	1
regulation of mitochondrial depolarization	1
negative regulation of membrane depolarization	1
metabolic process	1
release of cytochrome c from mitochondria	1
negative regulation of organelle organization	1
regulation of release of cytochrome c from mitochondria	1
negative regulation of apoptotic signaling pathway	1
intracellular signal transduction	1
extrinsic apoptotic signaling pathway in absence of ligand	1
negative regulation of signal transduction in absence of ligand	1
negative regulation of extrinsic apoptotic signaling pathway	1
regulation of extrinsic apoptotic signaling pathway in absence of ligand	1
biological_process	1
molecular_function	1
organelle outer membrane	1
organelle inner membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
membrane	1
cell periphery	1

Protein interactions and networks

STRING

1612 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
IFI6	IFI44L	Q53G44	848
IFI6	IFI44	Q8TCB0	821
IFI6	IFITM1	P13164	817
IFI6	OAS1	P00973	815
IFI6	IFIT3	O14879	812
IFI6	MX1	P20591	811
IFI6	OASL	Q15646	787
IFI6	OAS2	P29728	782
IFI6	IFITM3	Q01628	779
IFI6	OAS3	Q9Y6K5	768
IFI6	ISG15	P05161	767
IFI6	IFNA13	P01562	744
IFI6	IRF9	Q00978	737
IFI6	STAT1	P42224	732
IFI6	XAF1	Q6GPH4	723

IntAct

2 interactions, top by confidence:

A	B	Type	Score
IFI6	GPAA1	psi-mi:“MI:0914”(association)	0.350

BioGRID (50): IFI6 (Affinity Capture-MS), HSPA5 (Affinity Capture-Western), HSPA5 (Co-localization), SREK1 (Affinity Capture-MS), PRPF38A (Affinity Capture-MS), ESF1 (Affinity Capture-MS), DDX46 (Affinity Capture-MS), KNOP1 (Affinity Capture-MS), DIDO1 (Affinity Capture-MS), RRP36 (Affinity Capture-MS), SCAF11 (Affinity Capture-MS), SLTM (Affinity Capture-MS), SNIP1 (Affinity Capture-MS), ZC3H4 (Affinity Capture-MS), TJP2 (Affinity Capture-MS)

ESM2 similar proteins: A0A0H2XIV9, A0L9X3, B0KTG9, B1I892, B5E1Z4, B8ZNI6, C0HL68, C1C9E8, C1CGA6, C1CMJ2, C1CTB2, O26106, O31557, P07579, P09912, P0A3K0, P0A3K1, P0C8T8, P0DTW2, P0DY15, P19407, P34306, P34327, P34677, P40843, P58316, P67293, P67294, P75617, P77354, P80967, P83313, P84841, P86018, P86155, Q04IS6, Q18EC3, Q24JY7, Q28808, Q2G179

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

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
1526429	GRCh37/hg19 1p36.11-35.3(chr1:27488298-28138628)	Pathogenic

SpliceAI

716 predictions. Top by Δscore:

Variant	Effect	Δscore
1:27668223:CACCG:C	donor_loss	1.0000
1:27668224:A:AC	donor_gain	1.0000
1:27668224:A:C	donor_loss	1.0000
1:27668225:C:CT	donor_gain	1.0000
1:27668225:CCG:C	donor_gain	1.0000
1:27668225:CCGA:C	donor_gain	1.0000
1:27668225:CCGAG:C	donor_gain	1.0000
1:27668375:CCTGG:C	acceptor_loss	1.0000
1:27668376:C:CC	acceptor_gain	1.0000
1:27668453:CCCA:C	donor_loss	1.0000
1:27668455:CAC:C	donor_loss	1.0000
1:27668456:ACCT:A	donor_gain	1.0000
1:27668457:C:CT	donor_loss	1.0000
1:27668457:CCTC:C	donor_gain	1.0000
1:27668459:T:TA	donor_gain	1.0000
1:27668534:ACCTG:A	acceptor_loss	1.0000
1:27668536:C:A	acceptor_loss	1.0000
1:27668220:ACTC:A	donor_loss	0.9900
1:27668224:AC:A	donor_gain	0.9900
1:27668225:CC:C	donor_gain	0.9900
1:27668372:AGTC:A	acceptor_gain	0.9900
1:27668373:GTC:G	acceptor_gain	0.9900
1:27668374:TC:T	acceptor_gain	0.9900
1:27668375:CC:C	acceptor_gain	0.9900
1:27668377:T:A	acceptor_loss	0.9900
1:27668531:CTTAC:C	acceptor_gain	0.9900
1:27668532:TTAC:T	acceptor_gain	0.9900
1:27668533:TAC:T	acceptor_gain	0.9900
1:27668534:AC:A	acceptor_gain	0.9900
1:27668535:CC:C	acceptor_gain	0.9900

AlphaMissense

827 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:27668341:G:C	F61L	0.996
1:27668341:G:T	F61L	0.996
1:27668343:A:G	F61L	0.996
1:27668342:A:G	F61S	0.995
1:27668342:A:C	F61C	0.989
1:27668296:C:A	M76I	0.981
1:27668296:C:G	M76I	0.981
1:27668296:C:T	M76I	0.981
1:27668309:G:T	A72D	0.980
1:27668327:A:G	I66T	0.980
1:27668346:C:G	G60R	0.980
1:27668327:A:C	I66S	0.978
1:27668300:A:G	L75P	0.976
1:27666439:C:T	G112D	0.974
1:27668327:A:T	I66N	0.974
1:27668345:C:T	G60D	0.974
1:27668345:C:A	G60V	0.970
1:27668316:A:G	S70P	0.968
1:27668315:G:C	S70W	0.967
1:27668230:G:C	S98R	0.966
1:27668230:G:T	S98R	0.966
1:27668232:T:G	S98R	0.966
1:27668233:C:A	Q97H	0.966
1:27668233:C:G	Q97H	0.966
1:27668343:A:C	F61V	0.966
1:27668243:G:T	A94D	0.965
1:27668458:C:G	G50R	0.965
1:27668458:C:T	G50R	0.965
1:27666427:C:T	G116D	0.963
1:27668237:A:G	L96P	0.961

dbSNP variants (sampled 300 via entrez): RS1000846998 (1:27672023 A>G), RS1001014579 (1:27665658 C>T), RS1001231343 (1:27670088 G>A), RS1001473231 (1:27672387 G>A,C), RS1001577474 (1:27670301 T>C), RS1002863193 (1:27668886 C>T), RS1003251890 (1:27667217 A>G), RS1003326183 (1:27668556 C>A,T), RS1003464344 (1:27669528 C>G,T), RS1003610233 (1:27667452 G>A), RS1003642605 (1:27673801 A>T), RS1003758946 (1:27674067 C>G), RS1003978093 (1:27672425 C>T), RS1004094145 (1:27672696 A>G), RS1004522678 (1:27668052 G>A)

Disease associations

OMIM: gene MIM:147572 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST004904_218	Body mass index	2.000000e-08

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004340	body mass index

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	decreases methylation, affects cotreatment, increases expression, affects expression	8
sodium arsenite	affects methylation, affects cotreatment, increases expression, decreases expression	5
trichostatin A	affects cotreatment, increases expression, affects expression	4
Estradiol	affects cotreatment, decreases expression, increases expression	4
Tretinoin	increases expression, affects cotreatment	4
Benzo(a)pyrene	decreases expression, increases expression, increases methylation, decreases reaction	3
Cisplatin	increases reaction, affects expression, increases expression	3
Tetrachlorodibenzodioxin	affects cotreatment, decreases expression, increases expression	3
Cyclosporine	decreases expression	3
Particulate Matter	decreases expression, increases abundance, affects cotreatment	3
monomethylarsonous acid	decreases expression, increases expression	2
Acetaminophen	increases expression	2
Air Pollutants	decreases expression, increases abundance	2
Fluorouracil	increases expression, decreases reaction, increases activity	2
Nicotine	affects cotreatment, increases expression, decreases expression	2
Tamoxifen	decreases expression, increases expression	2
Asbestos, Serpentine	decreases expression, increases expression	2
aristolochic acid I	increases expression	1
3,19-(2-bromobenzylidene)andrographolide	decreases response to substance, increases expression	1
testosterone enanthate	affects expression	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
chlorophyllin	increases expression, decreases reaction	1
lead acetate	decreases expression	1
mono-(2-ethylhexyl)phthalate	affects cotreatment, affects expression	1
butyraldehyde	increases expression	1
nickel chloride	affects cotreatment, increases expression	1
perfluorooctanoic acid	decreases expression	1
zinc chromate	decreases expression, increases abundance	1
ochratoxin A	increases acetylation, increases expression	1

Cellosaurus cell lines

4 cell lines: 4 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B1FT	Abcam A-549 IFI6 KO 1	Cancer cell line	Male
CVCL_B2NC	Abcam A-549 IFI6 KO 2	Cancer cell line	Male
CVCL_E1ZS	HAP1 IFI6 (-) 2	Cancer cell line	Male
CVCL_XP73	HAP1 IFI6 (-) 1	Cancer cell line	Male

Clinical trials (associated diseases)

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