SFI1

Summary

SFI1 (SFI1 centrin binding protein, HGNC:29064) is a protein-coding gene on chromosome 22q12.2, encoding Protein SFI1 homolog (A8K8P3). Plays a role in the dynamic structure of centrosome-associated contractile fibers via its interaction with CETN2. It is a selective cancer dependency (DepMap: 40.1% of cell lines).

Enables phosphatase binding activity. Located in centriole.

Source: NCBI Gene 9814 — RefSeq curated summary.

At a glance

• Gene–disease (curated): Liberfarb syndrome (Strong, GenCC)
• GWAS associations: 17
• Clinical variants (ClinVar): 509 total — 5 pathogenic, 2 likely-pathogenic
• Cancer dependency (DepMap): dependent in 40.1% of screened cell lines
• MANE Select transcript: NM_001007467

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29064
Approved symbol	SFI1
Name	SFI1 centrin binding protein
Location	22q12.2
Locus type	gene with protein product
Status	Approved
Aliases	KIAA0542, PISD, PPP1R139
Ensembl gene	ENSG00000198089
Ensembl biotype	protein_coding
OMIM	612765
Entrez	9814

Gene structure

Transcript identifiers

Ensembl transcripts: 96 — 76 protein_coding, 11 retained_intron, 6 protein_coding_CDS_not_defined, 3 nonsense_mediated_decay

ENST00000357852, ENST00000382162, ENST00000400288, ENST00000400289, ENST00000411518, ENST00000417682, ENST00000425671, ENST00000432498, ENST00000443011, ENST00000444859, ENST00000450787, ENST00000452250, ENST00000463436, ENST00000464333, ENST00000465437, ENST00000465646, ENST00000466991, ENST00000467357, ENST00000474741, ENST00000476010, ENST00000476577, ENST00000478887, ENST00000484806, ENST00000486708, ENST00000488883, ENST00000491973, ENST00000495107, ENST00000524296, ENST00000540643, ENST00000891985, ENST00000891986, ENST00000891987, ENST00000891988, ENST00000891989, ENST00000891990, ENST00000891991, ENST00000891992, ENST00000891993, ENST00000891994, ENST00000891995, ENST00000891996, ENST00000891997, ENST00000891998, ENST00000891999, ENST00000892000, ENST00000892001, ENST00000892002, ENST00000892003, ENST00000892004, ENST00000892005, ENST00000892006, ENST00000892007, ENST00000892008, ENST00000892009, ENST00000892010, ENST00000892011, ENST00000930451, ENST00000930452, ENST00000930453, ENST00000930454, ENST00000930455, ENST00000930456, ENST00000930457, ENST00000930458, ENST00000930459, ENST00000930460, ENST00000930461, ENST00000930462, ENST00000930463, ENST00000930464, ENST00000930465, ENST00000930466, ENST00000930467, ENST00000930468, ENST00000930469, ENST00000930470, ENST00000930471, ENST00000930472, ENST00000930473, ENST00000972447, ENST00000972448, ENST00000972449, ENST00000972450, ENST00000972451, ENST00000972452, ENST00000972453, ENST00000972454, ENST00000972455, ENST00000972456, ENST00000972457, ENST00000972458, ENST00000972459, ENST00000972460, ENST00000972461, ENST00000972462, ENST00000972463

RefSeq mRNA: 5 — MANE Select: NM_001007467 NM_001007467, NM_001258325, NM_001258326, NM_001258327, NM_014775

CCDS: CCDS43004, CCDS43005, CCDS58803, CCDS58804

Canonical transcript exons

ENST00000400288 — 33 exons

Exon	Start	End
ENSE00001680711	31618314	31618588
ENSE00001698614	31496536	31496637
ENSE00003466563	31556942	31557059
ENSE00003472645	31604869	31604945
ENSE00003481911	31561290	31561392
ENSE00003485582	31578382	31578452
ENSE00003488990	31618115	31618226
ENSE00003496324	31611143	31611303
ENSE00003521516	31602607	31602785
ENSE00003521700	31546861	31546971
ENSE00003533586	31602212	31602293
ENSE00003548382	31613142	31613216
ENSE00003559131	31615048	31615279
ENSE00003561341	31611766	31611840
ENSE00003563038	31583875	31583972
ENSE00003565825	31607937	31608033
ENSE00003573231	31617000	31617078
ENSE00003579569	31606328	31606430
ENSE00003582173	31589447	31589577
ENSE00003594284	31573058	31573214
ENSE00003594609	31531058	31531129
ENSE00003620660	31575231	31575392
ENSE00003629999	31508255	31508376
ENSE00003634315	31580272	31580364
ENSE00003637060	31613354	31613530
ENSE00003639480	31603744	31603819
ENSE00003664545	31550254	31550348
ENSE00003671431	31604309	31604404
ENSE00003677014	31616745	31616877
ENSE00003684483	31585068	31585134
ENSE00003688717	31613602	31613855
ENSE00003786521	31614789	31614860
ENSE00003805406	31528690	31528863

Expression profiles

Bgee: expression breadth ubiquitous, 241 present calls, max score 98.59.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 12.4584 / max 276.0139, expressed in 1764 samples.

FANTOM5 promoters (10 alternative TSS)

Promoter ID	TPM avg	Samples expressed
191813	9.1294	1677
191811	1.2497	528
191810	1.2087	560
191812	0.4782	201
191814	0.3199	165
191821	0.0211	3
191816	0.0192	5
191822	0.0130	6
191820	0.0125	4
191823	0.0067	1

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cerebellar hemisphere	UBERON:0002245	98.59	gold quality
right hemisphere of cerebellum	UBERON:0014890	98.59	gold quality
cerebellar cortex	UBERON:0002129	98.48	gold quality
cerebellum	UBERON:0002037	96.78	gold quality
right uterine tube	UBERON:0001302	96.56	gold quality
granulocyte	CL:0000094	96.45	gold quality
left testis	UBERON:0004533	94.99	gold quality
adenohypophysis	UBERON:0002196	94.98	gold quality
right testis	UBERON:0004534	94.82	gold quality
small intestine Peyer’s patch	UBERON:0003454	94.76	gold quality
sural nerve	UBERON:0015488	94.22	gold quality
pituitary gland	UBERON:0000007	93.82	gold quality
metanephros cortex	UBERON:0010533	93.52	gold quality
spleen	UBERON:0002106	92.99	gold quality
right lobe of thyroid gland	UBERON:0001119	92.91	gold quality
left lobe of thyroid gland	UBERON:0001120	92.60	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	92.57	gold quality
small intestine	UBERON:0002108	92.33	gold quality
testis	UBERON:0000473	92.02	gold quality
right frontal lobe	UBERON:0002810	91.95	gold quality
mucosa of transverse colon	UBERON:0004991	91.54	gold quality
transverse colon	UBERON:0001157	91.41	gold quality
lymph node	UBERON:0000029	91.39	gold quality
skin of leg	UBERON:0001511	91.29	gold quality
endocervix	UBERON:0000458	91.18	gold quality
pancreatic ductal cell	CL:0002079	91.14	gold quality
thyroid gland	UBERON:0002046	91.14	gold quality
right adrenal gland cortex	UBERON:0035827	91.08	gold quality
right adrenal gland	UBERON:0001233	91.07	gold quality
left ovary	UBERON:0002119	91.02	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.99

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

10 targeting SFI1, 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-548C-3P	99.99	74.01	7587
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-551B-5P	99.96	71.28	3493
HSA-MIR-4760-3P	99.93	70.50	2385
HSA-MIR-579-3P	99.86	71.66	3628
HSA-MIR-664B-3P	99.84	71.65	3590
HSA-MIR-518A-5P	99.70	69.01	2209
HSA-MIR-527	99.70	69.01	2209
HSA-MIR-664A-3P	99.22	71.08	2696
HSA-MIR-4254	99.11	65.15	1315

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 40.1% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 5)

• The structure of C-HsCen2 [the C-terminal domain of HsCen2 (T94-Y172)] in complex with R17-hSfi1-20 was determined. (PMID:19857500)
• A chirality change in XPC- and Sfi1-derived peptides affects their affinity for centrin. (PMID:26923803)
• these results demonstrate that SFI1 is a centrosomal protein that localizes USP9X to the centrosome to stabilize STIL and promote centriole duplication. We propose that the USP9X protection of STIL to facilitate centriole duplication underlies roles of both proteins in human neurodevelopment. (PMID:31197030)
• Genome-wide investigation of DNA methylation in congenital adrenal hyperplasia. (PMID:32428554)
• Human SFI1 and Centrin form a complex critical for centriole architecture and ciliogenesis. (PMID:36125182)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	sfi1	ENSDARG00000053992
mus_musculus	Sfi1	ENSMUSG00000023764
rattus_norvegicus	Sfi1	ENSRNOG00000018412
drosophila_melanogaster	CG17258	FBGN0031496

Paralogs (1): CCDC191 (ENSG00000163617)

Protein

Protein identifiers

Protein SFI1 homolog — A8K8P3 (reviewed: A8K8P3)

All UniProt accessions (9): A8K8P3, D3YTJ2, E5RJU6, F8WBU4, H0Y5I7, H0Y836, H7BZF3, H7C2F1, X6RJF9

UniProt curated annotations — full annotation on UniProt →

Function. Plays a role in the dynamic structure of centrosome-associated contractile fibers via its interaction with CETN2.

Subunit / interactions. Interacts with CETN2 (via C-terminus).

Subcellular location. Cytoplasm. Cytoskeleton. Microtubule organizing center. Centrosome. Centriole.

Domain organisation. CETN2-binding regions contains a conserved Trp residue in their C-terminal ends, which seems critical for interaction with CETN2.

Similarity. Belongs to the SFI1 family.

Isoforms (7)

UniProt ID	Names	Canonical?
A8K8P3-1	1	yes
A8K8P3-2	2
A8K8P3-3	3
A8K8P3-4	4
A8K8P3-5	5
A8K8P3-9	9
A8K8P3-10	10

RefSeq proteins (5): NP_001007468, NP_001245254, NP_001245255, NP_001245256, NP_055590 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR052270	CACF_protein	Family

UniProt features (31 total): sequence variant 8, splice variant 7, repeat 6, region of interest 6, sequence conflict 2, chain 1, helix 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
2K2I	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A8K8P3-F1	67.45	0.00

Function

Pathways and Gene Ontology

Reactome pathways

16 pathways

ID	Pathway
R-HSA-2565942	Regulation of PLK1 Activity at G2/M Transition
R-HSA-380259	Loss of Nlp from mitotic centrosomes
R-HSA-380270	Recruitment of mitotic centrosome proteins and complexes
R-HSA-380284	Loss of proteins required for interphase microtubule organization from the centrosome
R-HSA-380320	Recruitment of NuMA to mitotic centrosomes
R-HSA-5620912	Anchoring of the basal body to the plasma membrane
R-HSA-8854518	AURKA Activation by TPX2
R-HSA-1640170	Cell Cycle
R-HSA-1852241	Organelle biogenesis and maintenance
R-HSA-380287	Centrosome maturation
R-HSA-453274	Mitotic G2-G2/M phases
R-HSA-5617833	Cilium Assembly
R-HSA-68877	Mitotic Prometaphase
R-HSA-68886	M Phase
R-HSA-69275	G2/M Transition
R-HSA-69278	Cell Cycle, Mitotic

MSigDB gene sets: 400 (showing top): GOBP_PHOSPHOLIPID_METABOLIC_PROCESS, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_UP, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, GOCC_MICROTUBULE_ORGANIZING_CENTER, GOBP_PHOSPHOLIPID_BIOSYNTHETIC_PROCESS, GOBP_GLYCEROLIPID_METABOLIC_PROCESS, GOBP_REGULATION_OF_MITOCHONDRION_ORGANIZATION, MISSIAGLIA_REGULATED_BY_METHYLATION_UP, GOBP_PROTEIN_MATURATION, ONKEN_UVEAL_MELANOMA_UP

GO Biological Process (0):

GO Molecular Function (2): phosphatase binding (GO:0019902), protein binding (GO:0005515)

GO Cellular Component (4): centriole (GO:0005814), cytosol (GO:0005829), cytoplasm (GO:0005737), cytoskeleton (GO:0005856)

Reactome top-level categories

Rollup of top-10 pathways:

Category	Pathways
G2/M Transition	3
Centrosome maturation	2
Cell Cycle, Mitotic	2
Loss of proteins required for interphase microtubule organization from the centrosome	1
Mitotic Prometaphase	1
Assembly of the 9+0 primary cilium	1
Organelle biogenesis and maintenance	1
M Phase	1
Mitotic G2-G2/M phases	1
Cell Cycle	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
intracellular membraneless organelle	2
cellular anatomical structure	2
enzyme binding	1
binding	1
microtubule organizing center	1
cytoplasm	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

990 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SFI1	CETN2	P41208	968
SFI1	CETN3	O15182	914
SFI1	POC5	Q8NA72	694
SFI1	CETN1	Q12798	693
SFI1	PF4	P02776	638
SFI1	PCNT	O95613	578
SFI1	LBHD1	Q9BQE6	569
SFI1	TUBGCP3	Q96CW5	544
SFI1	CNOT1	A5YKK6	520
SFI1	CDC14A	Q9UNH5	501
SFI1	TUBGCP2	Q9BSJ2	501
SFI1	CRAMP1	Q96RY5	474
SFI1	MEA1	Q16626	455
SFI1	FBXW9	Q5XUX1	454
SFI1	THAP7	Q9BT49	449

IntAct

40 interactions, top by confidence:

A	B	Type	Score
CETN2	SFI1	psi-mi:“MI:0407”(direct interaction)	0.740
SFI1	CETN2	psi-mi:“MI:0407”(direct interaction)	0.740
CETN2	SFI1	psi-mi:“MI:0914”(association)	0.740
CETN1	SFI1	psi-mi:“MI:0914”(association)	0.640
SFI1	PPP1CA	psi-mi:“MI:0915”(physical association)	0.540
PPP1CA	SFI1	psi-mi:“MI:0407”(direct interaction)	0.540
EFCAB11	SFI1	psi-mi:“MI:0914”(association)	0.530
SFI1	LMNB2	psi-mi:“MI:0915”(physical association)	0.400
SFI1	E6	psi-mi:“MI:0915”(physical association)	0.370
ECE1	SFI1	psi-mi:“MI:0915”(physical association)	0.370
SFI1	KRT19	psi-mi:“MI:0915”(physical association)	0.370
SFI1	RADIL	psi-mi:“MI:0915”(physical association)	0.370
MDFI	SFI1	psi-mi:“MI:0915”(physical association)	0.370
GOLGA2	SFI1	psi-mi:“MI:0915”(physical association)	0.370
Ubr5	SFI1	psi-mi:“MI:0914”(association)	0.350
Cetn2	SFI1	psi-mi:“MI:0914”(association)	0.350
PB2		psi-mi:“MI:0914”(association)	0.350
CETN3	SFI1	psi-mi:“MI:0914”(association)	0.350

BioGRID (50): SFI1 (Two-hybrid), SFI1 (Two-hybrid), SFI1 (Two-hybrid), SFI1 (Two-hybrid), MAD2L2 (Two-hybrid), SERTAD1 (Two-hybrid), CCDC120 (Two-hybrid), CCDC57 (Two-hybrid), FAM131C (Two-hybrid), SFI1 (Two-hybrid), RADIL (Two-hybrid), SFI1 (Two-hybrid), SFI1 (Two-hybrid), SFI1 (Two-hybrid), SFI1 (Affinity Capture-MS)

ESM2 similar proteins: A1IGU3, A1IGU4, A1IGU5, A5D8V7, A5PK16, A6QP29, A7E3N7, A8K8P3, A9CB34, B0KWR6, B5DFA1, D3ZI76, G3HQ82, O73770, P0C7M6, P41002, Q14129, Q14DK4, Q15051, Q3SYS7, Q3UK37, Q3UZY0, Q5SNV9, Q5SXM2, Q60953, Q60I26, Q60I27, Q69ZT1, Q6NUI2, Q8BP00, Q8BP86, Q8C1F5, Q8C2K1, Q8CJ00, Q8IV45, Q8NCU4, Q8NE28, Q8NEE8, Q8TE82, Q95KD7

Diamond homologs: A8K8P3, A9CB34, B0KWR6, Q3UZY0

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	5
Likely pathogenic	2
Uncertain significance	331
Likely benign	107
Benign	14

Top pathogenic / likely-pathogenic (7)

Variant ID	HGVS	Classification
1470810	NM_001326411.2(PISD):c.337dup (p.Ser113fs)	Pathogenic
2807239	NM_001326411.2(PISD):c.643del (p.Leu215fs)	Pathogenic
3625651	NM_001326411.2(PISD):c.175C>T (p.Arg59Ter)	Pathogenic
4802627	NM_001326411.2(PISD):c.51_52insT (p.Pro18fs)	Pathogenic
694325	NM_001326411.2(PISD):c.1006-12_1006-3del	Pathogenic
2696718	NM_001326411.2(PISD):c.845-2A>G	Likely pathogenic
2700183	NM_001326411.2(PISD):c.698-2A>G	Likely pathogenic

SpliceAI

7513 predictions. Top by Δscore:

Variant	Effect	Δscore
22:31488744:ACC:A	acceptor_loss	1.0000
22:31488746:CTGG:C	acceptor_loss	1.0000
22:31488747:T:A	acceptor_loss	1.0000
22:31489385:A:AC	donor_gain	1.0000
22:31489386:C:CC	donor_gain	1.0000
22:31489386:CTCA:C	donor_gain	1.0000
22:31489389:A:AC	donor_gain	1.0000
22:31489390:C:CT	donor_gain	1.0000
22:31508254:GTTA:G	acceptor_gain	1.0000
22:31508375:AGGT:A	donor_loss	1.0000
22:31508376:GGTG:G	donor_loss	1.0000
22:31508377:G:GA	donor_loss	1.0000
22:31508378:T:G	donor_loss	1.0000
22:31528681:A:AG	acceptor_gain	1.0000
22:31528682:A:G	acceptor_gain	1.0000
22:31546859:A:AG	acceptor_gain	1.0000
22:31546860:G:GG	acceptor_gain	1.0000
22:31546968:ACAG:A	donor_loss	1.0000
22:31546969:CAG:C	donor_loss	1.0000
22:31546970:AGGTC:A	donor_loss	1.0000
22:31546972:GTCA:G	donor_loss	1.0000
22:31550249:CTCA:C	acceptor_loss	1.0000
22:31550250:TCA:T	acceptor_loss	1.0000
22:31550251:CAG:C	acceptor_loss	1.0000
22:31550252:AGG:A	acceptor_loss	1.0000
22:31550253:G:GT	acceptor_loss	1.0000
22:31550359:G:GT	donor_gain	1.0000
22:31550410:G:GT	donor_gain	1.0000
22:31550457:G:GT	donor_gain	1.0000
22:31550457:G:T	donor_gain	1.0000

AlphaMissense

8067 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
22:31550285:T:A	W161R	0.973
22:31550285:T:C	W161R	0.973
22:31546904:T:A	W128R	0.969
22:31546904:T:C	W128R	0.969
22:31556977:T:A	W194R	0.967
22:31556977:T:C	W194R	0.967
22:31531074:T:C	F95L	0.965
22:31531076:C:A	F95L	0.965
22:31531076:C:G	F95L	0.965
22:31531101:T:C	F104L	0.964
22:31531103:T:A	F104L	0.964
22:31531103:T:G	F104L	0.964
22:31613647:T:A	W930R	0.964
22:31613647:T:C	W930R	0.964
22:31618149:T:A	W1183R	0.964
22:31618149:T:C	W1183R	0.964
22:31618131:G:C	A1177P	0.962
22:31531086:T:A	W99R	0.958
22:31531086:T:C	W99R	0.958
22:31618141:T:C	L1180P	0.957
22:31589570:T:C	F513L	0.956
22:31589572:C:A	F513L	0.956
22:31589572:C:G	F513L	0.956
22:31613649:G:C	W930C	0.955
22:31613649:G:T	W930C	0.955
22:31613366:T:A	W860R	0.952
22:31613366:T:C	W860R	0.952
22:31606344:T:A	W691R	0.951
22:31606344:T:C	W691R	0.951
22:31602243:T:A	W526R	0.947

dbSNP variants (sampled 300 via entrez): RS1000019587 (22:31565988 G>T), RS1000081445 (22:31589899 T>C), RS1000085234 (22:31559715 A>G), RS1000094774 (22:31541423 C>T), RS1000141351 (22:31567302 C>A), RS1000141454 (22:31602022 C>A,G,T), RS1000170359 (22:31496327 G>C), RS1000181520 (22:31617720 C>A,T), RS1000194304 (22:31504424 T>C), RS1000194623 (22:31572490 T>C), RS1000196315 (22:31544173 A>G), RS1000197366 (22:31586980 A>G), RS1000200600 (22:31531485 C>T), RS1000222544 (22:31496509 C>G,T), RS1000289618 (22:31526049 C>G)

Disease associations

OMIM: gene MIM:612765 | disease phenotypes: MIM:618889

GenCC curated gene-disease

Disease	Classification	Inheritance
Liberfarb syndrome	Strong	Autosomal recessive

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
Liberfarb syndrome	Moderate	AR

Mondo (2): congenital portosystemic shunt (MONDO:0018811), Liberfarb syndrome (MONDO:0030045)

Orphanet (2): Congenital portosystemic shunt (Orphanet:480531), Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome (Orphanet:589442)

HPO phenotypes

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

GWAS associations

17 associations (top):

Study	Trait	p-value
GCST001428_19	Intelligence	7.000000e-08
GCST002074_2	Paclitaxel-induced neuropathy	3.000000e-06
GCST002491_17	Age-related hearing impairment	3.000000e-06
GCST004250_18	Alanine aminotransferase (ALT) levels after remission induction therapy in actute lymphoblastic leukemia (ALL)	2.000000e-06
GCST008833_18	Type 2 diabetes	4.000000e-09
GCST009391_611	Metabolite levels	3.000000e-07
GCST009391_612	Metabolite levels	4.000000e-07
GCST009391_663	Metabolite levels	1.000000e-06
GCST010135_20	Oily fish consumption	3.000000e-10
GCST010135_5	Oily fish consumption	1.000000e-15
GCST010140_12	Pork consumption	3.000000e-10
GCST010140_49	Pork consumption	1.000000e-15
GCST010142_11	Fish- and plant-related diet	1.000000e-11
GCST010142_79	Fish- and plant-related diet	3.000000e-08
GCST012231_20	A body shape index	3.000000e-09
GCST90002388_269	Lymphocyte count	2.000000e-09
GCST90002399_102	Neutrophil percentage of white cells	5.000000e-10

EFO canonical traits (8, from GWAS)

EFO ID	Trait name
EFO:0004337	intelligence
EFO:0007965	response to combination chemotherapy
EFO:0009793	isoleucine measurement
EFO:0009770	leucine measurement
EFO:0008111	diet measurement
EFO:0007789	BMI-adjusted waist circumference
EFO:0004587	lymphocyte count
EFO:0007990	neutrophil percentage of leukocytes

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

26 total (human), top 26 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Acetaminophen	increases expression	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
aristolochic acid I	decreases expression	1
methylmercuric chloride	decreases expression	1
2,5,2’,5’-tetrachlorobiphenyl	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
sodium arsenite	affects cotreatment, decreases expression, increases abundance	1
perfluorooctanoic acid	decreases expression	1
manganese chloride	affects cotreatment, decreases expression, increases abundance	1
perfluorooctane sulfonic acid	decreases expression	1
perfluoro-n-nonanoic acid	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
perfluorohexanesulfonic acid	decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
bisphenol S	affects cotreatment, decreases expression	1
jinfukang	increases expression	1
Arsenic	affects cotreatment, decreases expression, increases abundance	1
Dexamethasone	decreases expression, affects cotreatment	1
Hydrogen Peroxide	affects expression	1
Indomethacin	affects cotreatment, decreases expression	1
Manganese	affects cotreatment, decreases expression, increases abundance	1
Tobacco Smoke Pollution	decreases expression	1
1-Methyl-3-isobutylxanthine	affects cotreatment, decreases expression	1
Cyclosporine	decreases expression	1
Copper Sulfate	affects expression	1
Acrylamide	decreases 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_XS62	HAP1 SFI1 (-) 1	Cancer cell line	Male
CVCL_XS63	HAP1 SFI1 (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT06041906	Not specified	ENROLLING_BY_INVITATION	International Registry of Congenital Portosystemic Shunt (IRCPSS)
NCT07314814	Not specified	NOT_YET_RECRUITING	Genetic Hallmarks of Patients With Congenital Portosystemic Shunts and Portopulmonary Hypertension