FATE1

Summary

FATE1 (fetal and adult testis expressed 1, HGNC:24683) is a protein-coding gene on chromosome Xq28, encoding Fetal and adult testis-expressed transcript protein (Q969F0). Involved in the regulation of endoplasmic reticulum (ER)-mitochondria coupling.

This gene encodes a cancer-testis antigen that is highly expressed in hepatocellular carcinomas and other tumors and weakly expressed in normal tissues except testis. The protein is strongly expressed in spermatogonia, primary spermatocytes, and Sertoli cells in seminiferous tubules. This protein may have a role in the control of early testicular differentiation and cell proliferation.

Source: NCBI Gene 89885 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 51 total
• GTEx eGene: eQTL in 12 tissues, sQTL in 1 (q < 0.05)
• MANE Select transcript: NM_033085
• Notable: 51 clinical variants but no curated precision-oncology (CIViC) evidence yet

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24683
Approved symbol	FATE1
Name	fetal and adult testis expressed 1
Location	Xq28
Locus type	gene with protein product
Status	Approved
Aliases	FATE, CT43
Ensembl gene	ENSG00000147378
Ensembl biotype	protein_coding
OMIM	300450
Entrez	89885

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 7 protein_coding

MANE Select: ENST00000370350

Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 1, TSL 3: 1

ENST00000370350, ENST00000417321, ENST00000940339, ENST00000940340, ENST00001095947, ENST00001095948, ENST00001134540

RefSeq mRNA: 1 — MANE Select: NM_033085 NM_033085

CCDS: CCDS14700

Canonical transcript exons

ENST00000370350 — 5 exons

Exon	Start	End
ENSE00000979764	151717272	151717399
ENSE00000979765	151721395	151721501
ENSE00000979767	151722628	151723194
ENSE00001834754	151716035	151716225
ENSE00003462397	151721903	151721981

Expression profiles

Bgee: expression breadth ubiquitous, 130 present calls, max score 99.25.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.2850 / max 239.0750, expressed in 5 samples.

Highest expression (Bgee): testis, adult organism, male germ line stem cell (sensu Vertebrata) in testis, pancreatic ductal cell, adrenal tissue.

Genetic regulation across tissues (GTEx eQTL / sQTL)

FATE1 is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 12 tissues and its splicing (sQTL) in 1 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

13 significant tissue × QTL associations:

Tissue	QTL	q-value	Slope	Lead variant
Brain Frontal Cortex BA9	eqtl	1.2e-16	-0.74	X:151716148:C:T
Nerve Tibial	eqtl	1.4e-12	+0.36	X:151705932:G:A
Brain Cortex	eqtl	2.0e-11	-0.64	X:151716148:C:T
Brain Anterior cingulate cortex BA24	eqtl	7.5e-07	-0.56	X:151716148:C:T
Heart Left Ventricle	eqtl	9.7e-06	-0.28	X:151716148:C:T
Adipose Subcutaneous	eqtl	4.6e-04	-0.22	X:151716148:C:T
Muscle Skeletal	eqtl	1.2e-03	-0.22	X:151716148:C:T
Testis	sqtl	1.7e-03	-0.75	X:151722864:C:T
Thyroid	eqtl	1.8e-03	-0.24	X:151716148:C:T
Lung	eqtl	7.4e-03	-0.17	X:151706160:C:T
Brain Hypothalamus	eqtl	1.8e-02	+0.31	X:151702667:C:T
Small Intestine Terminal Ileum	eqtl	2.2e-02	+0.32	X:150761417:G:C
Skin Sun Exposed Lower leg	eqtl	3.9e-02	-0.27	X:152028358:G:A

FANTOM5 promoters

2 alternative TSS:

Promoter ID	TPM avg	Samples expressed
197994	0.2696	4
197995	0.0154	3

Top tissues by expression

showing 100 of 236 tissues by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
right testis	UBERON:0004534	99.25	gold quality
left testis	UBERON:0004533	99.09	gold quality
testis	UBERON:0000473	97.79	gold quality
adult organism	UBERON:0007023	93.43	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	92.07	gold quality
pancreatic ductal cell	CL:0002079	82.98	silver quality
adrenal tissue	UBERON:0018303	74.11	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	71.15	gold quality
epithelial cell of pancreas	CL:0000083	68.57	gold quality
apex of heart	UBERON:0002098	65.41	gold quality
ileal mucosa	UBERON:0000331	64.97	silver quality
deltoid	UBERON:0001476	64.63	silver quality
epithelium of nasopharynx	UBERON:0001951	64.20	gold quality
myocardium	UBERON:0002349	62.18	gold quality
tendon of biceps brachii	UBERON:0008188	61.21	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	61.07	gold quality
biceps brachii	UBERON:0001507	61.02	gold quality
quadriceps femoris	UBERON:0001377	60.69	gold quality
esophagus squamous epithelium	UBERON:0006920	59.46	gold quality
oral cavity	UBERON:0000167	59.44	gold quality
parotid gland	UBERON:0001831	59.42	gold quality
vastus lateralis	UBERON:0001379	59.37	gold quality
skin of hip	UBERON:0001554	58.50	silver quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	58.16	gold quality
gingival epithelium	UBERON:0001949	57.70	gold quality
nasal cavity epithelium	UBERON:0005384	57.20	gold quality
skeletal muscle tissue	UBERON:0001134	56.72	silver quality
medial globus pallidus	UBERON:0002477	56.60	gold quality
mucosa of sigmoid colon	UBERON:0004993	56.40	gold quality
decidua	UBERON:0002450	55.87	gold quality
heart right ventricle	UBERON:0002080	55.78	gold quality
muscle tissue	UBERON:0002385	55.35	silver quality
kidney epithelium	UBERON:0004819	55.32	gold quality
trabecular bone tissue	UBERON:0002483	55.14	gold quality
duodenum	UBERON:0002114	55.03	gold quality
globus pallidus	UBERON:0001875	54.92	gold quality
anterior cingulate cortex	UBERON:0009835	54.89	gold quality
nasal cavity mucosa	UBERON:0001826	54.66	gold quality
cardiac muscle of right atrium	UBERON:0003379	54.34	gold quality
left ventricle myocardium	UBERON:0006566	54.23	gold quality
upper arm skin	UBERON:0004263	53.52	gold quality
cartilage tissue	UBERON:0002418	53.49	gold quality
upper leg skin	UBERON:0004262	53.24	silver quality
Brodmann (1909) area 23	UBERON:0013554	52.97	gold quality
metanephros	UBERON:0000081	52.85	gold quality
visceral pleura	UBERON:0002401	52.63	gold quality
lateral globus pallidus	UBERON:0002476	52.46	gold quality
jejunal mucosa	UBERON:0000399	52.18	gold quality
parietal pleura	UBERON:0002400	51.84	gold quality
Brodmann (1909) area 9	UBERON:0013540	51.81	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	51.76	gold quality
cauda epididymis	UBERON:0004360	51.47	gold quality
cardiac ventricle	UBERON:0002082	51.42	gold quality
heart left ventricle	UBERON:0002084	51.40	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	51.31	gold quality
prefrontal cortex	UBERON:0000451	51.02	gold quality
middle temporal gyrus	UBERON:0002771	50.97	gold quality
seminal vesicle	UBERON:0000998	50.55	gold quality
pigmented layer of retina	UBERON:0001782	50.37	gold quality
right frontal lobe	UBERON:0002810	50.22	gold quality
corpus epididymis	UBERON:0004359	50.06	gold quality
neocortex	UBERON:0001950	50.04	gold quality
jejunum	UBERON:0002115	49.67	gold quality
amniotic fluid	UBERON:0000173	49.61	gold quality
caput epididymis	UBERON:0004358	49.58	gold quality
frontal cortex	UBERON:0001870	49.47	gold quality
hindlimb stylopod muscle	UBERON:0004252	49.31	gold quality
cerebellar vermis	UBERON:0004720	48.63	gold quality
buccal mucosa cell	CL:0002336	48.33	gold quality
layer of synovial tissue	UBERON:0007616	48.31	gold quality
muscle of leg	UBERON:0001383	48.04	gold quality
cerebral cortex	UBERON:0000956	47.89	gold quality
left lobe of thyroid gland	UBERON:0001120	47.63	gold quality
thyroid gland	UBERON:0002046	47.54	gold quality
right adrenal gland cortex	UBERON:0035827	47.40	gold quality
gastrocnemius	UBERON:0001388	47.31	gold quality
right coronary artery	UBERON:0001625	46.83	gold quality
heart	UBERON:0000948	46.80	gold quality
right lobe of thyroid gland	UBERON:0001119	46.67	gold quality
Brodmann (1909) area 46	UBERON:0006483	46.61	gold quality
penis	UBERON:0000989	46.53	gold quality
oocyte	CL:0000023	46.44	gold quality
pituitary gland	UBERON:0000007	46.21	gold quality
thoracic mammary gland	UBERON:0005200	46.21	silver quality
mammary gland	UBERON:0001911	46.11	silver quality
lateral nuclear group of thalamus	UBERON:0002736	46.10	gold quality
ectocervix	UBERON:0012249	45.90	gold quality
thymus	UBERON:0002370	45.88	silver quality
cortex of kidney	UBERON:0001225	45.84	gold quality
right adrenal gland	UBERON:0001233	45.69	gold quality
entorhinal cortex	UBERON:0002728	45.60	gold quality
kidney	UBERON:0002113	45.24	gold quality
metanephros cortex	UBERON:0010533	45.01	gold quality
placenta	UBERON:0001987	44.67	gold quality
subcutaneous adipose tissue	UBERON:0002190	44.51	gold quality
adrenal gland	UBERON:0002369	44.32	gold quality
synovial joint	UBERON:0002217	44.26	gold quality
superior frontal gyrus	UBERON:0002661	44.24	gold quality
adipose tissue	UBERON:0001013	43.44	gold quality
adult mammalian kidney	UBERON:0000082	43.24	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-GEOD-134144	yes	3978.63
E-GEOD-124263	yes	843.59
E-ANND-3	no	1.63

HPA expression

RNA tissue specificity: Tissue enriched

28 HPA tissues / cells by nTPM:

Tissue / cell	Axis	nTPM	Protein (IHC)
Testis	tissue	151.7	medium
Thymus	tissue	2.1
Postcentral gyrus	tissue	0.8
Pituitary gland	tissue	0.5
Skeletal muscle	tissue	0.5	not detected
Heart muscle	tissue	0.3	not detected
Ovary	tissue	0.3	not detected
Adipose tissue	tissue	0.3	not detected
Tongue	tissue	0.3
Small intestine	tissue	0.3	not detected
Stomach 1	tissue	0.2	not detected
Vagina	tissue	0.2	not detected
Thyroid gland	tissue	0.2	not detected
Lung	tissue	0.2	not detected
Duodenum	tissue	0.2	not detected
Lymph node	tissue	0.1	not detected
Rectum	tissue	0.1	not detected
Parathyroid gland	tissue	0.1	not detected
Urinary bladder	tissue	0.1	not detected
Endometrium 1	tissue	0.1	not detected
Spleen	tissue	0.1	not detected
Gallbladder	tissue	0.1	not detected
Kidney	tissue	0.1	not detected
Spinal cord	tissue	0.1
Hippocampus	tissue	0.1	not detected
Tonsil	tissue	0.1	not detected
Caudate putamen	tissue	0.1
Appendix	tissue	0.1	not detected

Brain sub-regions (HPA Brain Atlas): detected in 76; highest nTPM — Area parastriata, superior (1.0), Middle temporal gyrus (0.8), Postcentral gyrus, middle (0.8), Superior temporal gyrus (0.8), Angular gyrus (0.7).

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): DNMT3A, NR5A1, STAT4

miRNA regulators (miRDB)

Targeting FATE1 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).

21 miRNAs:

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-4725-3P	99.96	69.53	2520
HSA-MIR-6780B-5P	99.96	69.60	2562
HSA-MIR-1321	99.84	65.30	1811
HSA-MIR-4756-5P	99.84	64.98	1809
HSA-MIR-4739	99.84	65.25	1832
HSA-MIR-7106-5P	99.53	67.47	3574
HSA-MIR-671-5P	99.52	67.11	1277
HSA-MIR-889-5P	99.41	68.75	1025
HSA-MIR-6828-5P	99.31	69.21	1433
HSA-MIR-4721	99.26	66.05	818
HSA-MIR-6852-5P	99.17	66.69	2073
HSA-MIR-3125	99.14	68.49	2269
HSA-MIR-3916	98.99	68.04	2155
HSA-MIR-6859-5P	98.99	68.07	2049
HSA-MIR-3154	98.94	66.55	1455
HSA-MIR-219A-1-3P	98.91	67.87	639
HSA-MIR-583	98.71	67.44	1791
HSA-MIR-4700-5P	98.63	67.43	1915
HSA-MIR-3179	98.22	65.90	1445
HSA-MIR-3192-5P	96.98	65.76	1926
HSA-MIR-656-5P	96.82	67.67	372

Functional genomics

Regional missense constraint (gnomAD RMC): no regional variation along ENST00000370350 — one region, missense o/e 1.11.

Literature-anchored findings (GeneRIF, showing 4)

• This study has shown that only 1.4% of infertile men have mutations in the FATE gene, and that some of these mutations do not singly cause infertility. (PMID:12811541)
• FATE1 is a key survival factor in multiple oncogenic backgrounds. FATE1 prevents the accumulation of the stress-sensing BH3-only protein, BCL-2-Interacting Killer (BIK), thereby permitting viability in the presence of toxic stimuli. (PMID:26567849)
• In patients with ACC, FATE1 expression in their tumor is inversely correlated with their overall survival. the ER-mitochondria uncoupling activity of FATE1 is harnessed by cancer cells to escape apoptotic death and resist the action of chemotherapeutic drugs. (PMID:27402544)
• Study reports that EWSR1-FLI1 directly activates the anomalous expression of FATE1 in Ewing sarcoma. FATE1 is essential for Ewing sarcoma survival through the destabilization of BNIP3L, a poorly characterized BH3-only protein that is toxic to Ewing sarcoma cells. (PMID:31036566)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Fate1	ENSMUSG00000053593
rattus_norvegicus		ENSRNOG00000066670

Additional cross-species homologs

Sequence homologs in species beyond Ensembl Compara’s model organisms, by Diamond local protein alignment (% sequence identity; best hit per species). Lower-identity rows are more distant homologs. The matched accessions’ gene symbols aren’t in biobtree yet, so each row shows the UniProt accession.

Organism	UniProt	Identity	Method
Bos taurus	Q3ZCD8	93.6%	Diamond
Sus scrofa	Q95LB4	67.1%	Diamond

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
CNGA2	protein-coding	1260
GABRE	protein-coding	2564
MIR224	ncRNA	407009
MAGEA4	protein-coding	4103
MAGEA4-AS1	ncRNA	105373368
PRRG3	protein-coding	79057
PASD1	protein-coding	139135
VMA21	protein-coding	203547

Protein

Protein identifiers

Fetal and adult testis-expressed transcript protein — Q969F0 (reviewed: Q969F0)

Alternative names: Cancer/testis antigen 43, Tumor antigen BJ-HCC-2

All UniProt accessions (2): Q969F0, H7C1I5

UniProt curated annotations — full annotation on UniProt →

Function. Involved in the regulation of endoplasmic reticulum (ER)-mitochondria coupling. Negatively regulates the ER-mitochondria distance and Ca(2+) transfer from ER to mitochondria possibly implicating it in the regulation of apoptosis. May collaborate with RNF183 to restrain BIK protein levels thus regulating apoptotic signaling.

Subunit / interactions. Interacts with BIK and RNF183. Interacts with IMMT/MIC60and EMD.

Subcellular location. Mitochondrion. Mitochondrion outer membrane. Endoplasmic reticulum membrane.

Tissue specificity. Testis-specific in fetus (aged from 6 to 11 weeks). In adult, expressed predominantly in testis, with some expression in lung, heart, kidney, adrenal gland and whole brain. Highly expressed in certain types of cancer tissues such as hepatocellular carcinoma, colon and gastric cancer. Weakly expressed in normal pancreas.

RefSeq proteins (1): NP_149076* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR039153	FATE1	Family
IPR039433	Mff-like_dom	Domain

Pfam: PF05644

UniProt features (7 total): sequence variant 3, chain 1, transmembrane region 1, region of interest 1, mutagenesis site 1

Structure

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q969F0-F1	64.37	0.18

Human Protein Atlas

Protein class: Predicted membrane proteins, Predicted intracellular proteins

Protein evidence: Evidence at protein level

Antibody reliability (HPA): IH enhanced

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Mutagenesis-validated functional residues (1)

Position	Phenotype
151	impairs association with mitochondria.

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: 26 (showing top): GOBP_MITOCHONDRIAL_CALCIUM_ION_HOMEOSTASIS, GOCC_MITOCHONDRIAL_ENVELOPE, GOBP_MONOATOMIC_ION_HOMEOSTASIS, GOCC_ORGANELLE_MEMBRANE_CONTACT_SITE, GOBP_HOMEOSTATIC_PROCESS, GOBP_CHEMICAL_HOMEOSTASIS, GOCC_NUCLEAR_OUTER_MEMBRANE_ENDOPLASMIC_RETICULUM_MEMBRANE_NETWORK, GOCC_ORGANELLE_SUBCOMPARTMENT, GOMF_UBIQUITIN_LIKE_PROTEIN_LIGASE_BINDING, GOCC_ORGANELLE_ENVELOPE, chrXq28, GOCC_MITOCHONDRIA_ASSOCIATED_ENDOPLASMIC_RETICULUM_MEMBRANE_CONTACT_SITE, GSE10500_ARTHRITIC_SYNOVIAL_FLUID_VS_HEALTHY_MACROPHAGE_DN, GSE17974_IL4_AND_ANTI_IL12_VS_UNTREATED_24H_ACT_CD4_TCELL_UP, GSE12484_HEALTHY_VS_PERIDONTITIS_NEUTROPHILS_UP

GO Biological Process (4): apoptotic process (GO:0006915), negative regulation of apoptotic process (GO:0043066), negative regulation of mitochondrial calcium ion concentration (GO:0051562), regulation of apoptotic process (GO:0042981)

GO Molecular Function (3): ubiquitin protein ligase binding (GO:0031625), identical protein binding (GO:0042802), protein binding (GO:0005515)

GO Cellular Component (6): mitochondrial outer membrane (GO:0005741), endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), mitochondria-associated endoplasmic reticulum membrane contact site (GO:0044233), cytoplasm (GO:0005737), mitochondrion (GO:0005739)

GO top-level categories

22 GO namespaces:

Category	Terms
apoptotic process	2
cytoplasm	2
intracellular membrane-bounded organelle	2
programmed cell death	1
apoptotic signaling pathway	1
execution phase of apoptosis	1
regulation of apoptotic process	1
negative regulation of programmed cell death	1
mitochondrial calcium ion homeostasis	1
regulation of programmed cell death	1
ubiquitin-like protein ligase binding	1
protein binding	1
binding	1
mitochondrial membrane	1
organelle outer membrane	1
endomembrane system	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
organelle membrane contact site	1
intracellular anatomical structure	1
cellular anatomical structure	1

Experimentally-supported GO annotations

GO terms backed by direct experimental evidence (ECO experimental codes) — 7 of 13 annotations. The rest are phylogenetic / computational / electronic (IEA).

7 experimentally-supported GO terms:

GO term	NS	Evidence
negative regulation of apoptotic process	BP	direct assay
negative regulation of mitochondrial calcium ion concentration	BP	direct assay
endoplasmic reticulum	CC	direct assay
mitochondria-associated endoplasmic reticulum membrane contact site	CC	direct assay
mitochondrial outer membrane	CC	direct assay
identical protein binding	MF	physical interaction
ubiquitin protein ligase binding	MF	direct assay

Protein interactions and networks

STRING

showing 15 of 484 interactions by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FATE1	TOPAZ1	Q8N9V7	433
FATE1	RNF183	Q96D59	427
FATE1	FMR1NB	Q8N0W7	419
FATE1	PROSER2	Q86WR7	402
FATE1	SPANXC	Q9NY87	386
FATE1	SPANXD	Q9BXN6	380
FATE1	CCDC110	Q8TBZ0	346
FATE1	CAGE1	Q8TC20	341
FATE1	YJU2B	P13994	339
FATE1	PACS2	Q86VP3	325
FATE1	XAGE1B	Q9HD64	323
FATE1	RMDN3	Q96TC7	322
FATE1	ZNF165	P49910	313
FATE1	PLAC1	Q9HBJ0	310
FATE1	TESPA1	A2RU30	308

IntAct

Human interaction partners of FATE1 in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).

showing 30 of 108 partners by confidence:

Partner	Interaction type	MIscore	Records
EMD	physical association	0.850	10
BIK	physical association	0.830	8
CCDC70	physical association	0.780	7
INPP5K	physical association	0.780	7
NRG4	physical association	0.780	7
SYNGR1	physical association	0.720	9
BCL2L2	physical association	0.720	6
BNIP2	physical association	0.720	6
BNIP3	physical association	0.720	6
CD79A	physical association	0.720	6
KASH5	physical association	0.720	6
KCNS2	physical association	0.720	6
MARCHF2	physical association	0.720	6
NDUFB11	physical association	0.720	6
PRRG2	physical association	0.720	6
RPRM	physical association	0.720	6
SEC22A	physical association	0.720	6
SEC22C	physical association	0.720	6
SLC38A1	physical association	0.720	6
SLC7A1	physical association	0.720	6
SYNDIG1	physical association	0.720	6
TRAF3IP3	physical association	0.720	6
USP20	physical association	0.720	6
YIPF4	physical association	0.720	6
GPR25	physical association	0.700	5
MARCHF5	physical association	0.670	4
RNF183	physical association	0.670	4
SMIM14	physical association	0.670	4
TIMMDC1	physical association	0.670	4
TMEM11	physical association	0.670	4

BioGRID (151 interactions; top human partners by supporting records): EMD (Two-hybrid; 4 records), BIK (Two-hybrid; 3 records), NRG4 (Two-hybrid; 3 records), SYNGR1 (Two-hybrid; 3 records), AGTRAP (Two-hybrid; 2 records), BCL2L2 (Two-hybrid; 2 records), BNIP2 (Two-hybrid; 2 records), BNIP3 (Two-hybrid; 2 records), CCDC155 (Two-hybrid; 2 records), CCDC70 (Two-hybrid; 2 records), CD79A (Two-hybrid; 2 records), GPR25 (Two-hybrid; 2 records), INPP5K (Two-hybrid; 2 records), KCNS2 (Two-hybrid; 2 records), LNPEP (Two-hybrid; 2 records)

Disease & clinical

Genetic variants

Variant evidence for FATE1: 51 ClinVar records (0 pathogenic / likely pathogenic); 1 GWAS association.

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	31
Likely benign	5
Benign	0

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 34 predictions of 475):

Position(s)	Effect	Δscore	Sites
X:151716226–151716227	donor_loss	1.0000	3
X:151721901–151721902	acceptor_loss	1.0000	6
X:151721905	acceptor_gain	1.0000
X:151721982–151721983	donor_loss	1.0000	5
X:151716226	donor_loss	0.9900
X:151717400–151717401	donor_loss	0.9900	4
X:151721393–151721394	acceptor_loss	0.9900	5
X:151721394	acceptor_gain	0.9900
X:151721502–151721503	donor_loss	0.9900	6
X:151722563–151722564	acceptor_gain	0.9900	2

AlphaMissense

104 missense substitutions predicted likely pathogenic (of 1,190 scored), across 45 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
E152	6	0.765	0.890
W178	6	0.755	0.926
E133	6	0.746	0.863
R147	4	0.750	0.896
Q140	4	0.744	0.850
W68	4	0.725	0.770
M134	4	0.659	0.674
S173	3	0.977	0.977
L169	3	0.797	0.870
N176	3	0.797	0.874
F110	3	0.793	0.793
E162	3	0.740	0.827
L177	3	0.736	0.884
L148	3	0.732	0.936
R138	3	0.718	0.755
F105	3	0.715	0.715
M137	3	0.676	0.696
R161	3	0.675	0.723
I165	3	0.626	0.653
A172	2	0.886	0.937

HPA cancer prognostics

RNA cancer specificity: Group enriched (Kidney Renal Clear Cell Carcinoma, Testicular Germ Cell Tumor)

Human Protein Atlas survival analysis — favorable = higher expression predicts better survival.

2 prognostic cancer types:

Cancer	Prognostic	p-value
Kidney Renal Clear Cell Carcinoma (TCGA)	favorable	1.05e-06
Kidney Renal Clear Cell Carcinoma (validation)	favorable	0.00013

Disease associations

OMIM: gene MIM:300450 | disease phenotypes:

GWAS associations

1 associations:

Study	Trait	p-value
GCST008887_8	Systemising	1e-6

EFO canonical traits (from GWAS)

1 canonical traits:

EFO ID	Trait name
EFO:0010221	systemising measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (CPIC guideline: no)

CTD chemical–gene interactions

9 total (human), top 9 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sotorasib	affects cotreatment, increases expression	1
sodium arsenite	increases expression	1
CGP 52608	affects binding, increases reaction	1
trametinib	affects cotreatment, increases expression	1
NVP-BKM120	affects cotreatment, increases expression	1
Decitabine	increases expression	1
Benzo(a)pyrene	increases methylation, affects methylation	1
Valproic Acid	decreases methylation	1
Aflatoxin B1	increases methylation	1

Clinical trials (associated diseases)

Via MONDO — disease-level, not drug-specific.