FASTKD5

Summary

FASTKD5 (FAST kinase domains 5, HGNC:25790) is a protein-coding gene on chromosome 20p13, encoding FAST kinase domain-containing protein 5, mitochondrial (Q7L8L6). Plays an important role in the processing of non-canonical mitochondrial mRNA precursors. It is a selective cancer dependency (DepMap: 24.6% of cell lines).

Enables rRNA binding activity. Involved in mitochondrial RNA processing. Located in mitochondrial nucleoid and ribonucleoprotein granule.

Source: NCBI Gene 60493 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 94 total — 2 pathogenic
• Phenotypes (HPO): 53
• Druggable target: yes
• Cancer dependency (DepMap): dependent in 24.6% of screened cell lines
• MANE Select transcript: NM_021826

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25790
Approved symbol	FASTKD5
Name	FAST kinase domains 5
Location	20p13
Locus type	gene with protein product
Status	Approved
Aliases	FLJ13149
Ensembl gene	ENSG00000215251
Ensembl biotype	protein_coding
OMIM	614272
Entrez	60493

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 4 protein_coding, 1 retained_intron

ENST00000380266, ENST00000686392, ENST00000687419, ENST00000688674, ENST00000692371

RefSeq mRNA: 1 — MANE Select: NM_021826 NM_021826

CCDS: CCDS13048

Canonical transcript exons

ENST00000380266 — 2 exons

Exon	Start	End
ENSE00001108389	3159766	3159865
ENSE00001484365	3146519	3149260

Expression profiles

Bgee: expression breadth ubiquitous, 264 present calls, max score 90.24.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 23.9411 / max 193.3725, expressed in 1812 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
186124	23.9411	1812
186123	2.1369	1256

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
gastrocnemius	UBERON:0001388	90.24	gold quality
muscle of leg	UBERON:0001383	89.56	gold quality
muscle organ	UBERON:0001630	88.21	gold quality
hindlimb stylopod muscle	UBERON:0004252	87.45	gold quality
deltoid	UBERON:0001476	86.96	gold quality
islet of Langerhans	UBERON:0000006	86.70	gold quality
heart left ventricle	UBERON:0002084	85.92	gold quality
cardiac ventricle	UBERON:0002082	85.85	gold quality
leukocyte	CL:0000738	85.62	gold quality
monocyte	CL:0000576	85.61	gold quality
mononuclear cell	CL:0000842	85.58	gold quality
right adrenal gland cortex	UBERON:0035827	85.53	gold quality
right adrenal gland	UBERON:0001233	85.34	gold quality
biceps brachii	UBERON:0001507	85.28	gold quality
skeletal muscle tissue	UBERON:0001134	85.25	gold quality
left adrenal gland	UBERON:0001234	85.03	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	84.93	gold quality
adrenal gland	UBERON:0002369	84.58	gold quality
body of tongue	UBERON:0011876	84.40	gold quality
adrenal cortex	UBERON:0001235	84.36	gold quality
adrenal tissue	UBERON:0018303	84.36	gold quality
left adrenal gland cortex	UBERON:0035825	84.33	gold quality
bone marrow	UBERON:0002371	83.83	gold quality
quadriceps femoris	UBERON:0001377	83.79	silver quality
granulocyte	CL:0000094	83.62	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	83.58	gold quality
muscle tissue	UBERON:0002385	83.58	gold quality
gluteal muscle	UBERON:0002000	83.54	silver quality
heart right ventricle	UBERON:0002080	83.54	gold quality
tibialis anterior	UBERON:0001385	83.48	silver quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

1 targets.

Target	Regulation
COX4I1	Activation

Upstream regulators (CollecTRI, top): GRSF1

miRNA regulators (miRDB)

13 targeting FASTKD5, 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-4776-3P	100.00	68.73	1340
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-9985	99.98	72.11	2939
HSA-MIR-3119	99.92	71.34	2390
HSA-MIR-323A-3P	99.79	70.30	1739
HSA-MIR-4699-3P	99.71	70.15	3142
HSA-MIR-4477A	98.83	69.75	2952
HSA-MIR-5590-5P	98.81	68.78	969
HSA-MIR-603	98.58	68.28	1603
HSA-MIR-6516-5P	98.42	70.19	1551
HSA-MIR-6765-3P	97.83	64.59	1165

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 24.6% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 3)

• Despite the fact that proteins of the FASTK family FASTKD1-5 share the same domains, they exhibit various-sometimes opposing-functions in almost all steps of mitochondrial RNA metabolism. (PMID:29036396)
• Data show that the binding of FASTKD5 to mitochondrial RNA transcripts is regulated by NLRX1 which specifically interacts with FASTKD5. (PMID:29932989)
• The FASTK family proteins fine-tune mitochondrial RNA processing. (PMID:34748562)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Fastkd5	ENSMUSG00000079043
rattus_norvegicus	Fastkd5	ENSRNOG00000053270

Paralogs (5): FASTKD2 (ENSG00000118246), FASTKD3 (ENSG00000124279), TBRG4 (ENSG00000136270), FASTKD1 (ENSG00000138399), FASTK (ENSG00000164896)

Protein

Protein identifiers

FAST kinase domain-containing protein 5, mitochondrial — Q7L8L6 (reviewed: Q7L8L6)

All UniProt accessions (1): Q7L8L6

UniProt curated annotations — full annotation on UniProt →

Function. Plays an important role in the processing of non-canonical mitochondrial mRNA precursors.

Subunit / interactions. Found in a complex with GRSF1, DDX28, DHX30 and FASTKD2. Associates with the 12S mitochondrial rRNA (12S mt-rRNA).

Subcellular location. Mitochondrion matrix. Mitochondrion nucleoid.

Tissue specificity. Expression detected in spleen, thymus, testis, ovary, colon, heart, smooth muscle, kidney, brain, lung, liver and white adipose tissue with highest expression in heart, smooth muscle, liver and thyroid.

Similarity. Belongs to the FAST kinase family.

RefSeq proteins (1): NP_068598* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR010622	FAST_Leu-rich	Domain
IPR013579	FAST_2	Domain
IPR013584	RAP	Domain
IPR050870	FAST_kinase	Family

Pfam: PF06743, PF08368, PF08373

UniProt features (8 total): sequence variant 3, modified residue 2, transit peptide 1, chain 1, domain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q7L8L6-F1	79.38	0.69

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 (2): 95, 507

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-9837092	FASTK family proteins regulate processing and stability of mitochondrial RNAs

MSigDB gene sets: 123 (showing top): ELVIDGE_HYPOXIA_DN, GOBP_REGULATION_OF_MRNA_CATABOLIC_PROCESS, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_POST_TRANSCRIPTIONAL_REGULATION_OF_GENE_EXPRESSION, GOBP_REGULATION_OF_CATABOLIC_PROCESS, GOBP_MITOCHONDRIAL_RNA_PROCESSING, GOBP_MITOCHONDRIAL_RNA_METABOLIC_PROCESS, BYSTRYKH_HEMATOPOIESIS_STEM_CELL_AND_BRAIN_QTL_TRANS, TIEN_INTESTINE_PROBIOTICS_24HR_UP, NERF_Q2, REACTOME_METABOLISM_OF_RNA, GOCC_NUCLEOID, GOCC_MITOCHONDRIAL_MATRIX, GOCC_RIBONUCLEOPROTEIN_GRANULE, SCGGAAGY_ELK1_02

GO Biological Process (3): mitochondrial RNA processing (GO:0000963), mRNA processing (GO:0006397), regulation of mitochondrial mRNA stability (GO:0044528)

GO Molecular Function (3): RNA binding (GO:0003723), rRNA binding (GO:0019843), protein binding (GO:0005515)

GO Cellular Component (4): mitochondrion (GO:0005739), mitochondrial matrix (GO:0005759), ribonucleoprotein granule (GO:0035770), mitochondrial nucleoid (GO:0042645)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Mitochondrial RNA degradation	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
mitochondrion	3
RNA processing	2
intracellular membraneless organelle	2
mitochondrial RNA metabolic process	1
mitochondrial gene expression	1
mRNA metabolic process	1
regulation of mRNA stability	1
nucleic acid binding	1
RNA binding	1
binding	1
cytoplasm	1
intracellular membrane-bounded organelle	1
intracellular organelle lumen	1
supramolecular complex	1
mitochondrial matrix	1
nucleoid	1

Protein interactions and networks

STRING

480 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FASTKD5	NLRX1	Q86UT6	789
FASTKD5	FASTKD2	Q9NYY8	736
FASTKD5	GRSF1	Q12849	672
FASTKD5	TBRG4	Q969Z0	650
FASTKD5	FASTK	Q14296	645
FASTKD5	TRMT10C	Q7L0Y3	562
FASTKD5	DDX28	Q9NUL7	502
FASTKD5	ELAC2	Q9BQ52	501
FASTKD5	SUPV3L1	Q8IYB8	471
FASTKD5	MTPAP	Q9NVV4	448
FASTKD5	PRORP	O15091	447
FASTKD5	RPUSD3	Q6P087	447
FASTKD5	PTCD1	O75127	446
FASTKD5	PTCD2	Q8WV60	442
FASTKD5	RPUSD4	Q96CM3	438

IntAct

94 interactions, top by confidence:

A	B	Type	Score
	PMPCB	psi-mi:“MI:0914”(association)	0.640
KCNH1	FASTKD5	psi-mi:“MI:0915”(physical association)	0.560
FASTKD5	KCNH1	psi-mi:“MI:0915”(physical association)	0.560
TRIM27	FASTKD5	psi-mi:“MI:0915”(physical association)	0.560
FASTKD5	MID2	psi-mi:“MI:0915”(physical association)	0.560
FASTKD5	UBE2K	psi-mi:“MI:0915”(physical association)	0.560
NPY2R	RTL8C	psi-mi:“MI:0914”(association)	0.530
STK16	UNC119B	psi-mi:“MI:0914”(association)	0.530
APLNR	SLC33A1	psi-mi:“MI:0914”(association)	0.530
NPTN	TNPO2	psi-mi:“MI:0914”(association)	0.530
SCRIB	FASTKD5	psi-mi:“MI:0407”(direct interaction)	0.440
MTUS2	FASTKD5	psi-mi:“MI:0915”(physical association)	0.370
CCDC85B	FASTKD5	psi-mi:“MI:0915”(physical association)	0.370
SIRT4	VWA8	psi-mi:“MI:0914”(association)	0.350
Bmpr1a	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
Ypel5	KIF1B	psi-mi:“MI:0914”(association)	0.350
MASTL	MED26	psi-mi:“MI:0914”(association)	0.350
NCSTN	ESYT2	psi-mi:“MI:0914”(association)	0.350
Ndel1	VEZF1	psi-mi:“MI:0914”(association)	0.350
PPP4R1	CTNND1	psi-mi:“MI:0914”(association)	0.350
Cep72	TBC1D31	psi-mi:“MI:0914”(association)	0.350
ATL3	SNX14	psi-mi:“MI:0914”(association)	0.350
TUBG1	DPM1	psi-mi:“MI:0914”(association)	0.350
MAPK6	MYO9A	psi-mi:“MI:0914”(association)	0.350

BioGRID (340): FASTKD5 (Two-hybrid), FASTKD5 (Two-hybrid), FASTKD5 (Affinity Capture-MS), FASTKD5 (Affinity Capture-MS), FASTKD5 (Affinity Capture-MS), FASTKD5 (Affinity Capture-MS), FASTKD5 (Affinity Capture-MS), FASTKD5 (Affinity Capture-MS), FASTKD5 (Affinity Capture-MS), FASTKD5 (Affinity Capture-MS), FASTKD5 (Affinity Capture-MS), FASTKD5 (Affinity Capture-MS), FASTKD5 (Affinity Capture-MS), FASTKD5 (Affinity Capture-MS), FASTKD5 (Affinity Capture-MS)

ESM2 similar proteins: A1A5P5, A1L2L5, A1Z9A8, B5DF07, O15091, P42704, Q07DV3, Q08CK1, Q0IHP3, Q14C51, Q14CX7, Q14CZ7, Q28C74, Q28DE0, Q2KI62, Q32LU7, Q32N55, Q32PI8, Q3SZ55, Q4R366, Q4R6I5, Q53R41, Q566X6, Q58CX2, Q5R503, Q5R8W8, Q5RFI6, Q5SGE0, Q5XIR8, Q5ZKK3, Q5ZLS8, Q68FN9, Q6AYP3, Q6DI86, Q6GQ66, Q6PB66, Q6QI44, Q7L8L6, Q7TMV3, Q7Z3E5

Diamond homologs: Q5RFI6, Q7L8L6, Q7TMV3, Q95KD0, Q28DE0, Q53R41, Q6DI86, Q6GQ66

SIGNOR signaling

3 interactions.

A	Effect	B	Mechanism
FASTKD5	“up-regulates quantity by expression”	COX4I1	“transcriptional regulation”
GRSF1	“down-regulates quantity by repression”	FASTKD5	“transcriptional regulation”
FASTKD5	up-regulates	Stress_granules

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	2
Likely pathogenic	0
Uncertain significance	84
Likely benign	8
Benign	0

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
3899914	NM_021826.5(FASTKD5):c.1210C>T (p.Arg404Cys)	Pathogenic
564645	GRCh37/hg19 20p13-12.1(chr20:3092739-17091453)x1	Pathogenic

SpliceAI

612 predictions. Top by Δscore:

Variant	Effect	Δscore
20:3149259:TA:T	acceptor_gain	1.0000
20:3149261:C:CC	acceptor_gain	1.0000
20:3159761:CTCA:C	donor_loss	1.0000
20:3159762:TCA:T	donor_loss	1.0000
20:3159763:CA:C	donor_loss	1.0000
20:3159765:C:CT	donor_loss	1.0000
20:3159764:A:AC	donor_gain	0.9900
20:3159765:C:CC	donor_gain	0.9900
20:3149257:GATA:G	acceptor_gain	0.9800
20:3146799:T:A	donor_gain	0.9700
20:3159758:CCACT:C	donor_loss	0.9700
20:3159759:CACTC:C	donor_loss	0.9700
20:3159760:ACTCA:A	donor_loss	0.9700
20:3149256:AGATA:A	acceptor_gain	0.9600
20:3149259:TACTG:T	acceptor_loss	0.9600
20:3149260:AC:A	acceptor_loss	0.9600
20:3149261:C:A	acceptor_loss	0.9600
20:3146870:TC:T	donor_gain	0.9400
20:3146874:C:CT	donor_gain	0.9200
20:3159765:CCTG:C	donor_gain	0.9200
20:3149255:CAGA:C	acceptor_gain	0.9100
20:3149258:ATA:A	acceptor_gain	0.9100
20:3149263:G:C	acceptor_loss	0.9100
20:3149221:C:CT	acceptor_gain	0.9000
20:3146871:CT:C	donor_gain	0.8700
20:3149261:C:CA	acceptor_loss	0.8700
20:3149258:A:C	acceptor_gain	0.8500
20:3149597:GCT:G	acceptor_gain	0.8500
20:3147608:TC:T	donor_gain	0.8100
20:3149254:CCAGA:C	acceptor_gain	0.8100

AlphaMissense

5015 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
20:3148320:A:G	W251R	0.994
20:3148320:A:T	W251R	0.994
20:3146903:C:G	R723P	0.991
20:3146978:G:T	A698D	0.989
20:3146908:C:A	K721N	0.988
20:3146908:C:G	K721N	0.988
20:3148107:A:G	C322R	0.988
20:3146897:A:G	L725P	0.987
20:3147296:A:T	V592D	0.986
20:3148100:C:T	G324E	0.986
20:3148489:A:C	S194R	0.986
20:3148489:A:T	S194R	0.986
20:3148491:T:G	S194R	0.986
20:3147788:T:A	K428I	0.985
20:3147648:A:G	C475R	0.984
20:3146924:C:T	G716E	0.983
20:3148101:C:G	G324R	0.983
20:3148101:C:T	G324R	0.983
20:3148101:C:A	G324W	0.982
20:3148105:A:C	C322W	0.982
20:3147509:A:T	V521D	0.980
20:3147639:C:G	G478R	0.980
20:3147786:C:G	D429H	0.980
20:3147787:T:A	K428N	0.980
20:3147787:T:G	K428N	0.980
20:3147980:C:G	R364P	0.980
20:3146925:C:G	G716R	0.979
20:3146925:C:T	G716R	0.979
20:3146975:A:T	V699D	0.979
20:3147344:A:T	V576D	0.979

dbSNP variants (sampled 300 via entrez): RS1000350120 (20:3160480 T>TA), RS1000860442 (20:3157154 G>C), RS1001033893 (20:3151271 T>C), RS1001063423 (20:3151548 G>A,C), RS1001065372 (20:3150670 T>A), RS1001264591 (20:3156725 C>T), RS1001336092 (20:3151727 G>A,C), RS1001401934 (20:3152063 C>T), RS1001548412 (20:3159535 A>G), RS1001579801 (20:3159732 C>T), RS1001633147 (20:3158236 G>T), RS1001691367 (20:3154358 G>A,T), RS1001718970 (20:3152892 C>A), RS1001745869 (20:3147384 C>G), RS1001801558 (20:3146466 TA>T)

Disease associations

OMIM: gene MIM:614272 | disease phenotypes: MIM:256000, MIM:621431

GenCC curated gene-disease

Mondo (2): Leigh syndrome (MONDO:0009723), mitochondrial complex IV deficiency, nuclear type 24 (MONDO:0980755)

Orphanet (1): Leigh syndrome (Orphanet:506)

HPO phenotypes

53 total (30 of 53 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000219	Thin upper lip vermilion
HP:0000278	Retrognathia
HP:0000283	Broad face
HP:0000286	Epicanthus
HP:0000293	Full cheeks
HP:0000319	Smooth philtrum
HP:0000347	Micrognathia
HP:0000470	Short neck
HP:0000488	Retinopathy
HP:0000494	Downslanted palpebral fissures
HP:0000508	Ptosis
HP:0000529	Progressive visual loss
HP:0000565	Esotropia
HP:0000639	Nystagmus
HP:0001141	Severely reduced visual acuity
HP:0001252	Hypotonia
HP:0001254	Lethargy
HP:0001263	Global developmental delay
HP:0001300	Parkinsonism
HP:0001332	Dystonia
HP:0001508	Failure to thrive
HP:0001518	Small for gestational age
HP:0002015	Dysphagia
HP:0002063	Rigidity
HP:0002151	Increased circulating lactate concentration
HP:0002194	Delayed gross motor development
HP:0002376	Developmental regression
HP:0002490	Increased CSF lactate
HP:0002505	Loss of ambulation

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST003542_168	Night sleep phenotypes	9.000000e-06
GCST009523_68	Household income	1.000000e-08
GCST009524_276	Household income (MTAG)	3.000000e-09

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0009695	household income

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D007888	Leigh Disease	C10.228.140.163.100.412; C16.320.565.189.412; C16.320.565.202.810.444; C18.452.132.100.412; C18.452.648.189.412; C18.452.648.202.810.444; C18.452.660.520

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL6066371 (SINGLE PROTEIN)

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

ChEMBL bioactivities

2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
6.50	Kd	314.9	nM	CHEMBL5653589
6.50	ED50	314.9	nM	CHEMBL5653589

PubChem BioAssay actives

1 with measured affinity, of 2 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2148375: Binding affinity to human FASTKD5 incubated for 45 mins by Kinobead based pull down assay	kd	0.3149	uM

CTD chemical–gene interactions

27 total (human), top 27 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Cyclosporine	decreases expression, increases expression	3
Tobacco Smoke Pollution	increases expression	2
pirinixic acid	affects binding, decreases expression, increases activity	1
perfluorooctanoic acid	increases expression	1
resorcinol	increases expression	1
perfluorooctane sulfonic acid	decreases expression	1
pentabromodiphenyl ether	decreases expression	1
deguelin	decreases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1
3-(2-hydroxy-4-(2-methylnonan-2-yl)phenyl)cyclohexan-1-ol	increases expression	1
Temozolomide	increases expression	1
Leflunomide	decreases expression	1
Atrazine	decreases expression	1
Formaldehyde	decreases expression	1
Phenobarbital	affects expression	1
Potassium Chloride	decreases response to substance, increases expression	1
Rotenone	decreases expression	1
Silicon Dioxide	increases expression	1
Smoke	decreases expression	1
Dronabinol	increases expression, decreases response to substance	1
Tunicamycin	decreases expression	1
Urethane	increases expression	1
Valproic Acid	increases expression	1
Asbestos, Crocidolite	increases expression	1
Cadmium Chloride	decreases expression	1
Copper Sulfate	increases expression	1
Acrylamide	increases expression	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5651417	Binding	Binding affinity to human FASTKD5 incubated for 45 mins by Kinobead based pull down assay	NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem

Cellosaurus cell lines

3 cell lines: 3 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_C6Y6	HAP1 FASTKD5-sKO	Cancer cell line	Male
CVCL_C6Y7	HAP1 FASTKD3&4-dKO	Cancer cell line	Male
CVCL_C6Y8	HAP1 FASTKD4&5-dKO	Cancer cell line	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT01721733	PHASE2	COMPLETED	Safety and Efficacy Study of EPI-743 in Children With Leigh Syndrome
NCT02352896	PHASE2	COMPLETED	Long-Term Safety and Efficacy Evaluation of EPI-743 in Children With Leigh Syndrome
NCT03747328	PHASE2	WITHDRAWN	ABI-009 (Nab-sirolimus) in Patients With Genetically-confirmed Leigh or Leigh-like Syndrome
NCT06843811	PHASE2	ENROLLING_BY_INVITATION	Sirolimus for Leigh Syndrome
NCT06990984	PHASE2	NOT_YET_RECRUITING	A Dose-ranging Study of TTI-0102 in Adults and Children With Leigh Syndrome Spectrum (LSS)
NCT02544217	PHASE1	COMPLETED	A Dose-escalating Clinical Trial With KH176
NCT04378075	PHASE2/PHASE3	TERMINATED	A Study to Evaluate Efficacy and Safety of Vatiquinone for Treating Mitochondrial Disease in Participants With Refractory Epilepsy
NCT01780168	Not specified	RECRUITING	The NIH MINI Study: Metabolism, Infection, and Immunity in Inborn Errors of Metabolism
NCT01793168	Not specified	RECRUITING	Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
NCT01803906	Not specified	ENROLLING_BY_INVITATION	Tissue Sample Study for Mitochondrial Disorders
NCT03137355	Not specified	RECRUITING	The International Registry for Leigh Syndrome
NCT05277363	Not specified	WITHDRAWN	A Study of the Natural Course of SURF1 Deficiency
NCT05554835	Not specified	RECRUITING	Global Registry and Natural History Study for Mitochondrial Disorders
NCT06967831	Not specified	RECRUITING	Drug Repurposing for Mitochondrial Disorders Using iPSCs Derived Neural Cells