PFAS

Summary

PFAS (phosphoribosylformylglycinamidine synthase, HGNC:8863) is a protein-coding gene on chromosome 17p13.1, encoding Phosphoribosylformylglycinamidine synthase (O15067). Phosphoribosylformylglycinamidine synthase involved in the purines biosynthetic pathway. It is a selective cancer dependency (DepMap: 34.6% of cell lines).

Purines are necessary for many cellular processes, including DNA replication, transcription, and energy metabolism. Ten enzymatic steps are required to synthesize inosine monophosphate (IMP) in the de novo pathway of purine biosynthesis. The enzyme encoded by this gene catalyzes the fourth step of IMP biosynthesis.

Source: NCBI Gene 5198 — RefSeq curated summary.

At a glance

• GWAS associations: 14
• Clinical variants (ClinVar): 241 total — 3 pathogenic, 2 likely-pathogenic
• GTEx eGene: eQTL in 27 tissues, sQTL in 7 (q < 0.05)
• Cancer dependency (DepMap): dependent in 34.6% of screened cell lines
• Constraint (gnomAD): pLI 0.00 (LoF-tolerant), LOEUF 0.78 (unconstrained)
• MANE Select transcript: NM_012393
• Notable: 241 clinical variants but no curated precision-oncology (CIViC) evidence yet

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:8863
Approved symbol	PFAS
Name	phosphoribosylformylglycinamidine synthase
Location	17p13.1
Locus type	gene with protein product
Status	Approved
Aliases	PURL, FGARAT, KIAA0361, GATD8
Ensembl gene	ENSG00000178921
Ensembl biotype	protein_coding
OMIM	602133
Entrez	5198

Gene structure

Transcript identifiers

Ensembl transcripts: 27 — 18 protein_coding, 6 nonsense_mediated_decay, 2 retained_intron, 1 protein_coding_CDS_not_defined

MANE Select: ENST00000314666

Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 2, TSL 2: 3, TSL 3: 3, TSL 4: 3, TSL 5: 1

ENST00000314666, ENST00000546020, ENST00000578979, ENST00000580251, ENST00000580356, ENST00000581242, ENST00000581288, ENST00000583059, ENST00000584044, ENST00000585183, ENST00000585319, ENST00000625942, ENST00000897613, ENST00000937382, ENST00000937383, ENST00000937384, ENST00000937385, ENST00000937386, ENST00000937387, ENST00000937388, ENST00000937389, ENST00000955445, ENST00001058018, ENST00001058019, ENST00001058020, ENST00001058021, ENST00001141000

RefSeq mRNA: 1 — MANE Select: NM_012393 NM_012393

CCDS: CCDS11136

Canonical transcript exons

ENST00000314666 — 28 exons

Exon	Start	End
ENSE00001233777	8256524	8256648
ENSE00001233786	8256267	8256407
ENSE00001233803	8255502	8255691
ENSE00002686732	8268954	8270486
ENSE00003458639	8265288	8265468
ENSE00003471018	8268533	8268856
ENSE00003477524	8255027	8255132
ENSE00003515511	8258071	8258199
ENSE00003528927	8262920	8262993
ENSE00003536810	8263775	8263936
ENSE00003555219	8253859	8254079
ENSE00003565998	8264212	8264337
ENSE00003566414	8257807	8257938
ENSE00003573098	8263575	8263636
ENSE00003595205	8265862	8266017
ENSE00003599795	8263109	8263265
ENSE00003605761	8265556	8265639
ENSE00003608235	8255805	8255910
ENSE00003611867	8267372	8267463
ENSE00003619125	8266234	8266353
ENSE00003619462	8256835	8256963
ENSE00003628698	8266753	8266898
ENSE00003649078	8254166	8254301
ENSE00003653517	8264470	8264601
ENSE00003657732	8267028	8267235
ENSE00003664456	8267551	8267665
ENSE00003675038	8264895	8265125
ENSE00003845264	8249289	8249339

Expression profiles

Bgee: expression breadth ubiquitous, 264 present calls, max score 88.60.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 25.3914 / max 192.9216, expressed in 1779 samples.

Highest expression (Bgee): ventricular zone, embryo, ganglionic eminence, cortical plate, colonic epithelium.

Genetic regulation across tissues (GTEx eQTL / sQTL)

PFAS is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 27 tissues and its splicing (sQTL) in 7 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

showing 20 of 34 significant tissue × QTL associations:

Tissue	QTL	q-value	Slope	Lead variant
Cells EBV-transformed lymphocytes	sqtl	2.4e-24	-2.10	17:8247860:G:A
Whole Blood	eqtl	3.4e-18	+0.36	17:8247860:G:A
Cells Cultured fibroblasts	eqtl	4.2e-16	-0.12	17:8253992:C:T
Cells EBV-transformed lymphocytes	eqtl	6.1e-10	-0.18	17:8265487:A:G
Brain Frontal Cortex BA9	eqtl	6.1e-09	-0.35	17:8248922:C:G
Brain Cortex	eqtl	1.4e-07	-0.29	17:8253992:C:T
Small Intestine Terminal Ileum	sqtl	1.1e-04	-1.67	17:8247860:G:A
Adipose Subcutaneous	eqtl	1.2e-04	-0.12	17:8264906:T:C
Brain Caudate basal ganglia	eqtl	2.2e-04	-0.25	17:8254955:A:G
Testis	sqtl	2.7e-04	-1.96	17:8314778:T:G
Esophagus Mucosa	eqtl	2.9e-04	-0.10	17:8261260:A:G
Esophagus Muscularis	eqtl	3.7e-04	-0.13	17:8282584:C:T
Artery Tibial	eqtl	6.7e-04	-0.11	17:8282820:G:A
Nerve Tibial	sqtl	9.2e-04	-1.53	17:8261470:C:CT
Colon Sigmoid	eqtl	1.5e-03	-0.19	17:8261260:A:G
Artery Aorta	eqtl	1.6e-03	+0.16	17:8304275:A:C
Muscle Skeletal	eqtl	1.9e-03	+0.25	17:8269188:T:G
Brain Putamen basal ganglia	eqtl	5.8e-03	-0.29	17:8248922:C:G
Thyroid	sqtl	7.3e-03	-0.34	17:8253992:C:T
Nerve Tibial	eqtl	7.7e-03	-0.12	17:8263060:T:C

FANTOM5 promoters

3 alternative TSS:

Promoter ID	TPM avg	Samples expressed
159477	24.9354	1763
159475	0.4454	203
159478	0.0106	4

Top tissues by expression

showing 100 of 288 tissues by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
ventricular zone	UBERON:0003053	88.60	gold quality
embryo	UBERON:0000922	88.28	gold quality
ganglionic eminence	UBERON:0004023	87.41	gold quality
cortical plate	UBERON:0005343	85.72	gold quality
colonic epithelium	UBERON:0000397	84.64	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	83.80	gold quality
right ovary	UBERON:0002118	83.78	gold quality
right adrenal gland	UBERON:0001233	83.73	gold quality
right lobe of thyroid gland	UBERON:0001119	83.62	gold quality
left ovary	UBERON:0002119	83.41	gold quality
left adrenal gland cortex	UBERON:0035825	83.21	gold quality
metanephros cortex	UBERON:0010533	83.20	gold quality
left adrenal gland	UBERON:0001234	83.12	gold quality
ovary	UBERON:0000992	83.01	gold quality
right adrenal gland cortex	UBERON:0035827	82.93	gold quality
left uterine tube	UBERON:0001303	82.66	gold quality
adrenal gland	UBERON:0002369	82.60	gold quality
granulocyte	CL:0000094	82.45	gold quality
right lobe of liver	UBERON:0001114	82.45	gold quality
body of pancreas	UBERON:0001150	82.39	gold quality
stromal cell of endometrium	CL:0002255	82.35	gold quality
vermiform appendix	UBERON:0001154	82.34	gold quality
body of uterus	UBERON:0009853	82.34	gold quality
bone marrow cell	CL:0002092	82.27	gold quality
body of stomach	UBERON:0001161	82.26	gold quality
spleen	UBERON:0002106	82.24	gold quality
rectum	UBERON:0001052	81.92	gold quality
adrenal cortex	UBERON:0001235	81.85	gold quality
mucosa of transverse colon	UBERON:0004991	81.81	gold quality
left lobe of thyroid gland	UBERON:0001120	81.57	gold quality
adrenal tissue	UBERON:0018303	81.33	gold quality
right uterine tube	UBERON:0001302	81.25	gold quality
ectocervix	UBERON:0012249	81.22	gold quality
thyroid gland	UBERON:0002046	81.18	gold quality
stomach	UBERON:0000945	81.07	gold quality
lower esophagus mucosa	UBERON:0035834	81.01	gold quality
omental fat pad	UBERON:0010414	80.85	gold quality
esophagus mucosa	UBERON:0002469	80.84	gold quality
pancreas	UBERON:0001264	80.83	gold quality
peritoneum	UBERON:0002358	80.81	gold quality
right hemisphere of cerebellum	UBERON:0014890	80.67	gold quality
lymph node	UBERON:0000029	80.43	gold quality
transverse colon	UBERON:0001157	80.40	gold quality
adipose tissue of abdominal region	UBERON:0007808	80.39	gold quality
apex of heart	UBERON:0002098	80.37	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	80.35	gold quality
upper lobe of left lung	UBERON:0008952	80.19	gold quality
small intestine Peyer’s patch	UBERON:0003454	80.13	gold quality
pigmented layer of retina	UBERON:0001782	80.07	gold quality
cerebellar hemisphere	UBERON:0002245	80.01	gold quality
prefrontal cortex	UBERON:0000451	79.95	gold quality
cerebellar cortex	UBERON:0002129	79.87	gold quality
endocervix	UBERON:0000458	79.85	gold quality
minor salivary gland	UBERON:0001830	79.80	gold quality
gastrocnemius	UBERON:0001388	79.77	gold quality
hindlimb stylopod muscle	UBERON:0004252	79.74	gold quality
left coronary artery	UBERON:0001626	79.68	gold quality
nerve	UBERON:0001021	79.60	gold quality
tibial nerve	UBERON:0001323	79.60	gold quality
right frontal lobe	UBERON:0002810	79.60	gold quality
esophagus	UBERON:0001043	79.52	gold quality
skin of leg	UBERON:0001511	79.48	gold quality
muscle of leg	UBERON:0001383	79.47	gold quality
upper lobe of lung	UBERON:0008948	79.42	gold quality
vagina	UBERON:0000996	79.33	gold quality
subcutaneous adipose tissue	UBERON:0002190	79.29	gold quality
small intestine	UBERON:0002108	79.23	gold quality
islet of Langerhans	UBERON:0000006	79.21	gold quality
skin of abdomen	UBERON:0001416	79.00	gold quality
caecum	UBERON:0001153	78.82	gold quality
tonsil	UBERON:0002372	78.56	gold quality
colon	UBERON:0001155	78.55	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	78.52	gold quality
adipose tissue	UBERON:0001013	78.51	gold quality
metanephros	UBERON:0000081	78.50	gold quality
muscle layer of sigmoid colon	UBERON:0035805	78.50	gold quality
female reproductive system	UBERON:0000474	78.48	gold quality
smooth muscle tissue	UBERON:0001135	78.40	gold quality
cerebellum	UBERON:0002037	78.39	gold quality
intestine	UBERON:0000160	78.37	gold quality
coronary artery	UBERON:0001621	78.36	gold quality
connective tissue	UBERON:0002384	78.22	gold quality
heart left ventricle	UBERON:0002084	78.19	gold quality
large intestine	UBERON:0000059	78.17	gold quality
lower esophagus	UBERON:0013473	78.15	gold quality
lower esophagus muscularis layer	UBERON:0035833	78.15	gold quality
sigmoid colon	UBERON:0001159	78.13	gold quality
sural nerve	UBERON:0015488	78.06	gold quality
right atrium auricular region	UBERON:0006631	77.96	gold quality
ascending aorta	UBERON:0001496	77.95	gold quality
mouth mucosa	UBERON:0003729	77.95	gold quality
thoracic aorta	UBERON:0001515	77.90	gold quality
cardiac ventricle	UBERON:0002082	77.87	gold quality
right coronary artery	UBERON:0001625	77.78	gold quality
adult mammalian kidney	UBERON:0000082	77.67	gold quality
leukocyte	CL:0000738	77.61	gold quality
zone of skin	UBERON:0000014	77.59	gold quality
monocyte	CL:0000576	77.58	gold quality
adenohypophysis	UBERON:0002196	77.55	gold quality
testis	UBERON:0000473	77.48	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	7.16

HPA expression

RNA tissue specificity: Low tissue specificity

showing 60 of 76 HPA tissues / cells by nTPM:

Tissue / cell	Axis	nTPM	Protein (IHC)
Postcentral gyrus	tissue	16.3
Hippocampus	tissue	16.1	low
Nucleus accumbens	tissue	15.1
Choroid plexus	tissue	13.2
Locus coeruleus	tissue	12.4
Bone marrow	tissue	9.2	low
Lymph node	tissue	9.1	medium
Tonsil	tissue	7.7	high
Appendix	tissue	7.3	high
Thymus	tissue	7.0
Spleen	tissue	6.6	medium
Smooth muscle	tissue	6.4	not detected
Skin 1	tissue	6.3	not detected
Skeletal muscle	tissue	6.0	low
Colon	tissue	5.9	low
Pancreas	tissue	5.9	medium
Vagina	tissue	5.8	not detected
Fallopian tube	tissue	5.6	medium
Adipose tissue	tissue	5.5	not detected
Endometrium 1	tissue	5.4	medium
Pituitary gland	tissue	5.3
Retina	tissue	5.3
Rectum	tissue	5.3	medium
Parathyroid gland	tissue	5.2	medium
Urinary bladder	tissue	5.2	high
Testis	tissue	5.0	medium
Small intestine	tissue	5.0	low
Placenta	tissue	4.9	medium
Frontal cortex	tissue	4.8
Ovary	tissue	4.7	medium
Salivary gland	tissue	4.7	not detected
Caudate putamen	tissue	4.7
Cervix	tissue	4.6	not detected
Spinal cord	tissue	4.6
Kidney	tissue	4.5	medium
Duodenum	tissue	4.5	low
Prostate	tissue	4.5	medium
Adrenal gland	tissue	4.5	medium
Seminal vesicle	tissue	4.4	medium
Breast	tissue	4.3	medium
Thyroid gland	tissue	4.3	low
Stomach 1	tissue	4.2	medium
Esophagus	tissue	4.2	not detected
Corpus callosum	tissue	4.0
Cerebral cortex	tissue	3.9	medium
Hippocampal formation	tissue	3.9
Periaqueductal gray	tissue	3.9
Insular cortex	tissue	3.9
Heart muscle	tissue	3.7	low
Midbrain	tissue	3.7
Medulla oblongata	tissue	3.7
Amygdala	tissue	3.6
Hypothalamus	tissue	3.6
Superior colliculi	tissue	3.6
Entorhinal cortex	tissue	3.6
Lung	tissue	3.5	low
Prefrontal cortex	tissue	3.4
Liver	tissue	3.4	low
Olfactory bulb	tissue	3.4
Cerebellum	tissue	3.3	medium

Brain sub-regions (HPA Brain Atlas): detected in 191; highest nTPM — Cerebellar cortex (20.3), Flocculonodular lobe (20.2), Parieto-temporal junction (white matter) (19.0), Orbitofrontal gyrus, anterior (18.8), Vermis (18.7).

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): MYC

miRNA regulators (miRDB)

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

showing 30 of 49 miRNAs:

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-4455	100.00	65.48	1587
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-4789-5P	99.98	70.76	2721
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-7111-5P	99.97	68.48	2062
HSA-MIR-539-5P	99.93	70.30	2855
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-609	99.82	64.26	505
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-5093	99.67	69.26	2291
HSA-MIR-466	99.67	70.85	2863
HSA-MIR-1251-3P	99.64	67.21	1408
HSA-MIR-6134	99.63	65.68	1537
HSA-MIR-1827	99.63	68.57	3265
HSA-MIR-3942-3P	99.57	69.03	2854
HSA-MIR-4251	99.40	69.19	3363
HSA-MIR-584-3P	99.35	67.69	1082
HSA-MIR-2115-3P	99.31	69.68	2026
HSA-MIR-133A-3P	99.27	71.53	1270
HSA-MIR-133B	99.27	71.53	1270
HSA-MIR-3978	99.24	68.39	2201
HSA-MIR-3619-5P	99.00	68.87	2308
HSA-MIR-939-3P	98.97	65.07	2347
HSA-MIR-3145-3P	98.85	69.07	2031
HSA-MIR-4656	98.79	66.22	1306
HSA-MIR-501-5P	98.77	68.88	1328
HSA-MIR-214-3P	98.71	68.12	2128
HSA-MIR-761	98.71	68.07	2051
HSA-MIR-423-5P	98.69	67.48	1522

Functional genomics

gnomAD constraint: pLI 2.71e-19, LOEUF 0.777, missense Z 1.51 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD)

ENST00000314666 splits into 2 regions with different missense tolerance; 0 are missense-constrained. Missense variants in a constrained region (low observed/expected) are more likely to be pathogenic. gnomAD

Region (GRCh38)	Missense obs / exp	o/e	Constrained
17:8,253,938–8,263,890	773 / 757.3	1.02	no
17:8,263,891–8,269,261	883 / 1023.0	0.86	no
DepMap (CRISPR cell-line fitness): dependent in 34.6% of screened cell lines.

Most-dependent cell lines (DepMap gene-effect, lower = stronger; ≤ −0.5 shown): NOZ (-2.244), COLO 205 (-2.194), OE33 (-2.178), NCI-H1993 (-2.0), SU-DHL-1 (-1.986), HCC2998 (-1.956), ESO26 (-1.946), SNU-638 (-1.938), SNU-C1 (-1.84), PF-382 (-1.786), LS411N (-1.664), PC-14 (-1.64), KMS-26 (-1.636), KE-39 (-1.592), SUP-T1 (-1.584).

Literature-anchored findings (GeneRIF, showing 4)

• Study observed FGAMS as distinct puncta throughout neuronal processes, where it co-localized with neurofilament heavy chain, tubulin, and mitochondria. Data provide insight into potential purine biosynthetic mechanisms utilized within neurons during homeostasis as well as viral infection. (PMID:29337348)
• A total of 429 proteins are newly identified to interact with PFAS. PFAS interacts with CAD, CCT2, PRDX1, and PHGDH. (PMID:30987822)
• ERK2 Phosphorylates PFAS to Mediate Posttranslational Control of De Novo Purine Synthesis. (PMID:32485148)
• NSUN2-mediated m[5] C RNA methylation dictates retinoblastoma progression through promoting PFAS mRNA stability and expression. (PMID:37228185)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	pfas	ENSDARG00000003750
mus_musculus	Pfas	ENSMUSG00000020899
rattus_norvegicus	Pfas	ENSRNOG00000005193
drosophila_melanogaster	Pfas	FBGN0000052
caenorhabditis_elegans		WBGENE00008654

Mouse-model phenotypes

Observed phenotypes of the mouse ortholog (MGI:2684864) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 31 distinct phenotype terms.

Mouse phenotype (MP)	Records
short snout	3
belly spot	2
short maxilla	1
abnormal cranium morphology	1
domed cranium	1
abnormal snout morphology	1
abnormal nail morphology	1
decreased body weight	1
anophthalmia	1
microphthalmia	1
ocular hypertelorism	1
abnormal coat/hair pigmentation	1
abnormal eye morphology	1
decreased circulating triglyceride level	1
decreased lean body mass	1
non-pigmented tail tip	1
decreased percent body fat/body weight	1
decreased circulating aspartate transaminase level	1
decreased body mass index	1
upturned snout	1
abnormal transitional stage B cell morphology	1
decreased cranium height	1
abnormal interfrontal bone morphology	1
decreased total body fat amount	1
decreased bone mineral content	1

+6 more (showing top 25).

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
Yersinia pestis Antiqua	Q1C5E7	100.0%	Diamond
Yersinia pestis	Q8ZCQ2	100.0%	Diamond
Yersinia pestis Nepal516	Q1CKD2	99.9%	Diamond
Shigella dysenteriae Sd197	Q32D15	99.8%	Diamond
Escherichia coli O157:H7	Q8XA46	99.8%	Diamond
Escherichia coli K-12	P15254	99.7%	Diamond
Escherichia coli 536	Q0TET1	99.7%	Diamond
Shigella sonnei Ss046	Q3YYZ8	99.7%	Diamond
Yersinia pseudotuberculosis IP 32953	Q667W1	99.7%	Diamond
Vibrio vulnificus YJ016	Q7MN70	99.7%	Diamond
Vibrio vulnificus CMCP6	Q8DF81	99.7%	Diamond
Escherichia coli CFT073	Q8FF26	99.7%	Diamond
Salmonella enterica subsp. enterica serovar Typhimurium str. LT2	P74881	99.6%	Diamond
Escherichia coli UTI89	Q1R8H7	99.6%	Diamond
Salmonella enterica subsp. enterica serovar Choleraesuis str. SC-B67	Q57LE6	99.6%	Diamond
Shewanella sp. MR-4	Q0HKU9	99.5%	Diamond
Shewanella sp. MR-7	Q0HX47	99.5%	Diamond
Shigella boydii Sb227	Q31XT0	99.5%	Diamond
Salmonella enterica subsp. enterica serovar Paratyphi A str. ATCC 9150	Q5PIG8	99.5%	Diamond
Salmonella enterica subsp. enterica serovar Typhi	Q8Z4L6	99.5%	Diamond
Haemophilus influenzae Rd KW20	P43847	99.2%	Diamond
Haemophilus influenzae 86-028NP	Q4QME6	99.2%	Diamond
Pseudomonas savastanoi pv. phaseolicola 1448A	Q48LX3	98.9%	Diamond
Pseudomonas syringae pv. syringae B728a	Q4ZX02	98.9%	Diamond
Pseudomonas syringae pv. tomato str. DC3000	Q886W6	98.3%	Diamond
Neisseria meningitidis Z2491	Q9JWC5	97.8%	Diamond
Neisseria meningitidis MC58	Q9JXK5	97.8%	Diamond
Xylella fastidiosa Temecula1	Q87DN2	97.0%	Diamond
Xylella fastidiosa 9a5c	Q9PDF6	97.0%	Diamond
Shewanella oneidensis MR-1	Q8EC57	96.2%	Diamond
Pseudomonas fluorescens Pf0-1	Q3KHL4	94.4%	Diamond
Pseudomonas protegens Pf-5	Q4KHS6	94.4%	Diamond
Vibrio parahaemolyticus RIMD 2210633	Q87RW0	92.8%	Diamond
Xanthomonas campestris pv. campestris str. ATCC 33913	Q8PCQ7	92.8%	Diamond
Neisseria gonorrhoeae FA 1090	Q5F7J4	91.1%	Diamond
Pseudomonas putida KT2440	Q88P16	88.2%	Diamond
Vibrio cholerae O1 biovar El Tor str. N16961	Q9KTN2	87.7%	Diamond
[Mannheimia] succiniciproducens MBEL55E	Q65RJ7	87.6%	Diamond
Pasteurella multocida subsp. multocida str. Pm70	Q9CLW4	87.4%	Diamond
Aliivibrio fischeri ES114	Q5E749	87.0%	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
TRP-CGG1-3	tRNA	100189124
TRT-AGT1-2	tRNA	100189222
TRI-AAT4-1	tRNA	100189393
LINC00324	ncRNA	284029
CTC1	protein-coding	80169
TRS-AGA2-6	tRNA	100189184
RANGRF	protein-coding	29098
SLC25A35	protein-coding	399512
ARHGEF15	protein-coding	22899
TRD-GTC2-11	tRNA	100189383

Protein

Protein identifiers

Phosphoribosylformylglycinamidine synthase — O15067 (reviewed: O15067)

Alternative names: Formylglycinamide ribonucleotide amidotransferase, Formylglycinamide ribotide amidotransferase, Phosphoribosylformylglycineamide amidotransferase

All UniProt accessions (8): H0YGH1, J3KT98, J3KTL4, J3KTQ5, J3QL39, J3QSG0, J3QSH6, O15067

UniProt curated annotations — full annotation on UniProt →

Function. Phosphoribosylformylglycinamidine synthase involved in the purines biosynthetic pathway. Catalyzes the ATP-dependent conversion of formylglycinamide ribonucleotide (FGAR) and glutamine to yield formylglycinamidine ribonucleotide (FGAM) and glutamate.

Subcellular location. Cytoplasm.

Pathway. Purine metabolism; IMP biosynthesis via de novo pathway; 5-amino-1-(5-phospho-D-ribosyl)imidazole from N(2)-formyl-N(1)-(5-phospho-D-ribosyl)glycinamide: step 1/2.

Similarity. In the N-terminal section; belongs to the FGAMS family.

RefSeq proteins (1): NP_036525* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR010073	PurL_large	Family
IPR010918	PurM-like_C_dom	Domain
IPR029062	Class_I_gatase-like	Homologous_superfamily
IPR036604	PurS-like_sf	Homologous_superfamily
IPR036676	PurM-like_C_sf	Homologous_superfamily
IPR036921	PurM-like_N_sf	Homologous_superfamily
IPR040707	FGAR-AT_N	Domain
IPR041609	PurL_linker	Domain
IPR055181	FGAR-AT_PurM_N-like	Domain

Pfam: PF02769, PF13507, PF18072, PF18076, PF22689

Enzyme classification (BRENDA)

• EC 6.3.5.3 — phosphoribosylformylglycinamidine synthase (BRENDA: 17 organisms, 17 substrates, 19 inhibitors, 20 Km, 2 kcat entries)

Substrate kinetics (BRENDA)

10 substrates with measured Km, best-characterized 10. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
ATP	0.181–1.5	4
5’-PHOSPHORIBOSYLFORMYLGLYCINAMIDE	0.06–0.1	2
GLN	0.11–0.2	2
L-GLN	0.03	2
NH4+	1–7.5	2
(-)CARBOCYCLIC-5’-PHOSPHORIBOSYLFORMYLGLYCINAMID	0.0468	1
BETA-5’-PHOSPHORIBOSYLFORMYLGLYCINAMIDE	0.23	1
FORMYLGLYCINAMIDE RIBONUCLEOTIDE	0.507	1
L-GLUTAMINE	1.3	1
N2-FORMYL-N1-(5-PHOSPHO-D-RIBOSYL)GLYCINAMIDE	0.18	1

Catalyzed reactions (Rhea)

• N(2)-formyl-N(1)-(5-phospho-beta-D-ribosyl)glycinamide + L-glutamine + ATP + H2O = 2-formamido-N(1)-(5-O-phospho-beta-D-ribosyl)acetamidine + L-glutamate + ADP + phosphate + H(+) (RHEA:17129)

UniProt features (22 total): binding site 8, modified residue 4, sequence variant 4, active site 3, chain 1, domain 1, sequence conflict 1

Structure

Experimental structures (PDB)

3 structures by resolution:

PDB	Title	Method	Resolution (Å)
9NB3	Cryo-EM structure of quaternary complex of human phosphoribosylglycinamidine synthase …	ELECTRON MICROSCOPY	3.19
9NAL	Cryo-EM structure of ternary complex of human phosphoribosylglycinamidine synthase with …	ELECTRON MICROSCOPY	3.22
9N9W	Cryo-EM structure of AMPPNP bound human phosphoribosylformylglycinamidine synthase	ELECTRON MICROSCOPY	3.31

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O15067-F1	92.52	0.84

Human Protein Atlas

Protein class: Enzymes, ENZYME proteins, Ligase, Metabolic proteins, Predicted intracellular proteins, Plasma proteins

Protein evidence: Evidence at protein level

Subcellular location (HPA, imaging): vesicles

Antibody reliability (HPA): IH enhanced · IF approved

Functional residue map

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

Catalytic / active sites (3)

Position	Role
1158	nucleophile
1297
1299

Ligand- & substrate-binding residues (8)

Position	Role
750	Mg(2+)
909	Mg(2+)
911	ATP
322–333	ATP
402–404	ATP
706	ATP
707	Mg(2+)
746	Mg(2+)

Post-translational modifications (4)

Type	Positions
Phosphoserine	215, 569
Phosphothreonine	619, 623

Function

Pathways and Gene Ontology

Reactome pathways

1 curated (TAS) of 4; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).

4 pathways:

ID	Pathway	Evidence
R-HSA-73817	Purine ribonucleoside monophosphate biosynthesis	curated
R-HSA-1430728	Metabolism	—
R-HSA-15869	Metabolism of nucleotides	—
R-HSA-8956320	Nucleotide biosynthesis	—

MSigDB gene sets: 211 (showing top): ATF_B, GOBP_ALPHA_AMINO_ACID_METABOLIC_PROCESS, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_GLUTAMINE_FAMILY_AMINO_ACID_METABOLIC_PROCESS, GOBP_NUCLEOSIDE_PHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOBP_GLUTAMINE_METABOLIC_PROCESS, PUJANA_CHEK2_PCC_NETWORK, GOBP_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS, CREB_Q4, ATF1_Q6, GOBP_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS, GNF2_RFC3, SCHAEFFER_PROSTATE_DEVELOPMENT_6HR_UP

GO Biological Process (8): purine nucleotide biosynthetic process (GO:0006164), GMP biosynthetic process (GO:0006177), ‘de novo’ IMP biosynthetic process (GO:0006189), L-glutamine metabolic process (GO:0006541), purine ribonucleoside monophosphate biosynthetic process (GO:0009168), response to xenobiotic stimulus (GO:0009410), ‘de novo’ AMP biosynthetic process (GO:0044208), ‘de novo’ XMP biosynthetic process (GO:0097294)

GO Molecular Function (5): phosphoribosylformylglycinamidine synthase activity (GO:0004642), ATP binding (GO:0005524), metal ion binding (GO:0046872), nucleotide binding (GO:0000166), ligase activity (GO:0016874)

GO Cellular Component (3): cytoplasm (GO:0005737), cytosol (GO:0005829), extracellular exosome (GO:0070062)

Reactome top-level categories

3 top-level categories:

Category	Pathways
Nucleotide biosynthesis	1
Metabolism	1
Metabolism of nucleotides	1

GO top-level categories

26 GO namespaces:

Category	Terms
cellular anatomical structure	2
purine nucleotide metabolic process	1
nucleotide biosynthetic process	1
purine-containing compound biosynthetic process	1
purine ribonucleotide biosynthetic process	1
purine ribonucleoside monophosphate biosynthetic process	1
GMP metabolic process	1
IMP biosynthetic process	1
proteinogenic amino acid metabolic process	1
purine nucleoside monophosphate biosynthetic process	1
ribonucleoside monophosphate biosynthetic process	1
purine ribonucleoside monophosphate metabolic process	1
response to chemical	1
AMP biosynthetic process	1
XMP biosynthetic process	1
carbon-nitrogen ligase activity, with glutamine as amido-N-donor	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
anion binding	1
cation binding	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
catalytic activity	1
intracellular anatomical structure	1
cytoplasm	1
extracellular vesicle	1

Experimentally-supported GO annotations

GO terms backed by direct experimental evidence (ECO experimental codes) — 6 of 16 annotations. The rest are phylogenetic / computational / electronic (IEA).

6 experimentally-supported GO terms:

GO term	NS	Evidence
‘de novo’ AMP biosynthetic process	BP	direct assay
‘de novo’ IMP biosynthetic process	BP	direct assay
‘de novo’ XMP biosynthetic process	BP	direct assay
GMP biosynthetic process	BP	direct assay
extracellular exosome	CC	high-throughput assay
phosphoribosylformylglycinamidine synthase activity	MF	direct assay

Protein interactions and networks

STRING

showing 15 of 795 interactions by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PFAS	PPAT	Q06203	970
PFAS	GART	P22102	957
PFAS	REEP5	Q00765	910
PFAS	ADSL	P30566	804
PFAS	ATIC	P31939	786
PFAS	PAICS	P22234	711
PFAS	GMPS	P49915	648
PFAS	POLR2B	P30876	647
PFAS	CTPS1	P17812	577
PFAS	CAD	P27708	535
PFAS	CTPS2	Q9NRF8	515
PFAS	ADSS2	P30520	510
PFAS	IMPDH2	P12268	500
PFAS	LINS1	Q8NG48	459
PFAS	UMPS	P11172	430

IntAct

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

16 partners by confidence:

Partner	Interaction type	MIscore	Records
GTF3C4	association	0.350	1
NIPSNAP2	association	0.350	1
PRKAG2	association	0.350	1
SSH3	proximity	0.270	1
BCAR3	physical association	0.000	1
CCNA1	physical association	0.000	1
EPB41	physical association	0.000	1
HLA-B	physical association	0.000	1
IKBKE	physical association	0.000	1
MCC	physical association	0.000	1
PHB2	physical association	0.000	1
SGK1	physical association	0.000	1
TFE3	physical association	0.000	1
TNFRSF10D	physical association	0.000	1
TRAF6	physical association	0.000	1
VHL	physical association	0.000	1

BioGRID (211 interactions; top human partners by supporting records): AMBRA1 (Proximity Label-MS; 3 records), PRNP (Affinity Capture-MS; 3 records), DNAJC7 (Affinity Capture-MS; 2 records), HSPA8 (Affinity Capture-MS; 2 records), NXF1 (Affinity Capture-RNA; 2 records), PARK2 (Affinity Capture-MS; 2 records), PC (Co-fractionation; 2 records), SEPHS1 (Co-fractionation; 2 records), TOPBP1 (Proximity Label-MS; 2 records), AAR2 (Affinity Capture-MS), ABHD14A (Co-fractionation), ACACA (Negative Genetic), ACTB (Proximity Label-MS), ADSL (Co-fractionation), AIMP2 (Affinity Capture-MS)

SIGNOR signaling

5 signaling interactions:

A	Effect	B	Mechanism
MAPK1	up-regulates	PFAS	phosphorylation
PFAS	“down-regulates quantity”	N(2)-formyl-N(1)-(5-phospho-beta-D-ribosyl)glycinamide(2-)	“chemical modification”
PFAS	“down-regulates quantity”	“L-glutamine zwitterion”	“chemical modification”
PFAS	“up-regulates quantity”	2-formamido-N(1)-(5-O-phosphonato-beta-D-ribosyl)acetamidine	“chemical modification”
PFAS	“up-regulates quantity”	“glutamic acid”	“chemical modification”

Disease & clinical

Genetic variants

Variant evidence for PFAS: 241 ClinVar records (5 pathogenic / likely pathogenic); 14 GWAS associations. Per-variant detail is on Sugi Variant.

ClinVar

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

Classification	Count (floor)
Pathogenic	3
Likely pathogenic	2
Uncertain significance	186
Likely benign	16
Benign	4

Top pathogenic / likely-pathogenic (5)

Showing all 5 pathogenic / likely-pathogenic ClinVar records, ranked by ClinVar review status (expert panel → multiple submitters → single submitter), then by number of submitting labs.

Variant ID	HGVS	Classification	Review	Submitters
2202444	NM_025099.6(CTC1):c.1A>G (p.Met1Val)	Pathogenic	criteria provided, single submitter	1
3767280	NM_012393.3(PFAS):c.681-1G>A	Pathogenic	criteria provided, single submitter	1
3767279	NM_012393.3(PFAS):c.2431C>T (p.Arg811Trp)	Likely pathogenic	criteria provided, single submitter	1
3770161	NM_012393.3(PFAS):c.792C>G (p.Asn264Lys)	Likely pathogenic	criteria provided, single submitter	1
1460382	NC_000017.10:g.(?8136214)(8285628_?)del	Pathogenic	criteria provided, single submitter	1

Per-variant reference — Sugi Variant

Explore PFAS’s pathogenic and likely-pathogenic variants individually — each with its ClinVar classification and conditions, applied ACMG criteria (ClinGen expert panel, where curated), the calibrated in-silico predictors (AlphaMissense, REVEL, SaProt, conservation), gnomAD frequency, and the predictor-disagreement QC signal — on Sugi Variant.

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 34 predictions of 1,882):

Position(s)	Effect	Δscore	Sites
17:8254164–8254165	acceptor_loss	1.0000	2
17:8254302	donor_loss	1.0000	2
17:8255495	acceptor_gain	1.0000
17:8255500–8255501	acceptor_loss	1.0000	6
17:8255692–8255693	donor_loss	1.0000	5
17:8255803–8255804	acceptor_loss	1.0000	4
17:8255911	donor_loss	1.0000
17:8257805–8257806	acceptor_loss	1.0000	6
17:8257939–8257940	donor_loss	1.0000	5
17:8258063–8258065	acceptor_gain	1.0000	2

AlphaMissense

3,114 missense substitutions predicted likely pathogenic (of 8,635 scored), across 797 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
M769	9	0.927	0.990
M922	9	0.869	0.966
D516	8	0.998	1.000
D333	8	0.995	0.998
H229	8	0.994	0.998
D804	8	0.993	0.997
H311	8	0.992	0.998
D685	8	0.988	0.995
N272	8	0.985	0.999
D221	8	0.984	0.991
H232	8	0.982	0.997
D271	8	0.977	0.996
F235	8	0.976	0.993
D800	8	0.974	0.992
H515	8	0.973	0.995
D909	8	0.971	0.988
N524	8	0.969	0.999
D199	8	0.967	0.988
N767	8	0.959	0.998
D1092	8	0.950	0.979

HPA cancer prognostics

RNA cancer specificity: Low cancer specificity

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

4 prognostic cancer types:

Cancer	Prognostic	p-value
Liver Hepatocellular Carcinoma (TCGA)	unfavorable	2.72e-06
Glioblastoma Multiforme (validation)	favorable	0.00019
Prostate Adenocarcinoma (TCGA)	unfavorable	0.000373
Pancreatic Adenocarcinoma (TCGA)	favorable	0.000884

Disease associations

OMIM: gene MIM:602133 | disease phenotypes: MIM:105650, MIM:127550

GenCC curated gene-disease

Mondo (2): Diamond-Blackfan anemia (MONDO:0015253), dyskeratosis congenita (MONDO:0015780)

Orphanet (2): Diamond-Blackfan anemia (Orphanet:124), Dyskeratosis congenita (Orphanet:1775)

GWAS associations

14 associations:

Study	Trait	p-value
GCST90002397_23	Mean spheric corpuscular volume	2e-20
GCST90002403_121	Red blood cell count	3e-20
GCST90002391_189	Mean corpuscular hemoglobin concentration	1e-18
GCST004604_29	Hematocrit	5e-17
GCST90002387_45	Immature fraction of reticulocytes	4e-13
GCST010083_332	Hemoglobin levels	1e-12
GCST90002383_361	Hematocrit	3e-11
GCST004601_193	Red blood cell count	5e-11
GCST004615_93	Hemoglobin concentration	1e-10
GCST004605_19	Mean corpuscular hemoglobin concentration	5e-9
GCST003303_4	LDL cholesterol	1e-8
GCST004233_29	LDL cholesterol levels	1e-7
GCST004139_15	Bipolar disorder	2e-7
GCST005023_29	Initial pursuit acceleration	9e-6

EFO canonical traits (from GWAS)

6 canonical traits:

EFO ID	Trait name
EFO:0004611	low density lipoprotein cholesterol measurement
EFO:0004305	erythrocyte count
EFO:0004348	hematocrit
EFO:0004528	mean corpuscular hemoglobin concentration
EFO:0004509	hemoglobin measurement
EFO:0008434	initial pursuit acceleration

MeSH disease descriptors

2 disease descriptors:

Descriptor	Name	Tree numbers
D029503	Anemia, Diamond-Blackfan	C15.378.050.085.080.090; C15.378.050.750.500; C15.378.190.223.500.500.090; C16.320.077.090
D019871	Dyskeratosis Congenita	C15.378.190.223.500.750; C16.131.831.150; C16.320.322.108; C16.320.850.235; C17.800.804.150; C17.800.827.235

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL4295655 (SINGLE PROTEIN)

PharmGKB: 1 entry (CPIC guideline: no)

Binding affinities (BindingDB)

1 measured of 1 human assays (1 total across all organisms); most potent 1 below. Values come from heterogeneous assays and are not directly comparable.

Ligand	Measure	Value
CHEMBL5653589	KD	1440 nM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases expression	3
Estradiol	increases expression, affects cotreatment, decreases expression	3
sodium arsenite	decreases expression, increases expression	2
Cisplatin	affects expression, decreases expression	2
Valproic Acid	decreases expression, increases expression	2
Particulate Matter	decreases expression, increases abundance, increases expression	2
GSK-J4	decreases expression	1
bisphenol F	increases expression	1
dicrotophos	increases expression	1
2,4,6-tribromophenol	decreases expression	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
decabromobiphenyl ether	decreases expression	1
arsenite	affects binding, decreases reaction	1
mono-(2-ethylhexyl)phthalate	affects cotreatment, affects expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
cobaltous chloride	decreases expression	1
tetrabromobisphenol A	decreases expression	1
nickel chloride	decreases expression	1
ochratoxin A	affects cotreatment, increases expression	1
potassium chromate(VI)	increases expression	1
monobutyl phthalate	affects cotreatment, affects expression	1
2-ethyl-5-carboxypentyl phthalate	affects cotreatment, affects expression	1
mono(2-ethyl-5-oxohexyl)phthalate	affects cotreatment, affects expression	1
CGP 52608	affects binding, increases reaction	1
mono-benzyl phthalate	affects cotreatment, affects expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
mono(2-ethyl-5-hydroxyhexyl) phthalate	affects cotreatment, affects expression	1
bisphenol B	increases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1

ChEMBL screening assays

2 unique, capped per target: 2 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL4118608	Binding	Binding affinity to PFAS in human NCI-H23 cells at 1 uM by mass spectrometry based pull down assay	Studies of TAK1-centered polypharmacology with novel covalent TAK1 inhibitors. — *Bioorg Med Chem*

Clinical trials (associated diseases)

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

52 trials:

NCT	Phase	Status	Title
NCT00673608	Phase 4	COMPLETED	Magnetic Resonance Imaging (MRI) Assessments of the Heart and Liver Iron Load in Patients With Transfusion Induced Iron Overload
NCT00235391	Phase 3	COMPLETED	Expanded Access of Deferasirox to Patients With Congenital Disorders of Red Blood Cells and Chronic Iron Overload
NCT00004787	Phase 2	COMPLETED	Phase II Pilot Study of Granulocyte Colony-Stimulating Factor for Inherited Bone Marrow Failure Syndromes
NCT01659606	Phase 2	ACTIVE_NOT_RECRUITING	Radiation- and Alkylator-free Bone Marrow Transplantation Regimen for Patients With Dyskeratosis Congenita
NCT03579875	Phase 2	RECRUITING	Alpha/Beta TCD HCT in Patients With Inherited BMF Disorders
NCT04232085	Phase 2	RECRUITING	Regenerative Medicine to Restore Hematopoiesis and Immune Function in Immunodeficiencies and Inherited Bone Marrow Failures
NCT04638517	Phase 2	TERMINATED	The TELO-SCOPE Study: Attenuating Telomere Attrition With Danazol. Is There Scope to Dramatically Improve Health Outcomes for Adults and Children With Pulmonary Fibrosis
NCT00001962	Phase 2	TERMINATED	A Study to Determine Whether Therapy With Daclizumab Will Benefit Patients With Bone Marrow Failure
NCT00011505	Phase 2	COMPLETED	Mobilization of Stem Cells With G-CSF for Collection From Patients With Diamond-Blackfan Anemia
NCT00301834	Phase 2	COMPLETED	Alemtuzumab, Fludarabine, and Busulfan Followed By Donor Stem Cell Transplant in Treating Young Patients With Hematologic Disorders
NCT00957931	Phase 2	COMPLETED	Allo-HCT MUD for Non-malignant Red Blood Cell (RBC) Disorders: Sickle Cell, Thal, and DBA: Reduced Intensity Conditioning, Co-tx MSCs
NCT01529827	Phase 2	COMPLETED	Fludarabine Phosphate, Melphalan, and Low-Dose Total-Body Irradiation Followed by Donor Peripheral Blood Stem Cell Transplant in Treating Patients With Hematologic Malignancies
NCT02386267	Phase 2	UNKNOWN	L-leucine in Diamond Blackfan Anemia Patients
NCT02512679	Phase 2	TERMINATED	Related Hematopoietic Stem Cell Transplantation (HSCT) for Genetic Diseases of Blood Cells
NCT03333486	Phase 2	TERMINATED	Fludarabine Phosphate, Cyclophosphamide, Total Body Irradiation, and Donor Stem Cell Transplant in Treating Patients With Blood Cancer
NCT04099966	Phase 2	RECRUITING	AlloSCT for Malignant and Non-malignant Hematologic Diseases Utilizing Alpha/Beta T Cell and CD19+ B Cell Depletion
NCT04965597	Phase 2	COMPLETED	Treosulfan-Based Conditioning Regimen Before a Blood or Bone Marrow Transplant for the Treatment of Bone Marrow Failure Diseases (BMT CTN 1904)
NCT01917708	Phase 1	COMPLETED	Bone Marrow Transplant With Abatacept for Non-Malignant Diseases
NCT06477614	Phase 1	RECRUITING	Anti-cancer DC Cell Vaccination to Treat Solid Tumors
NCT06817590	Phase 1	RECRUITING	Nucleoside Therapy in Patients With Telomere Biology Disorders
NCT07628972	Phase 1	RECRUITING	Quercetin Dyskeratosis Congenita (DC)/Telomere Biology Disorders (TBD)
NCT01586455	Phase 1	COMPLETED	Human Placental-Derived Stem Cell Transplantation
NCT00455312	Phase 2/3	COMPLETED	Stem Cell Transplant (SCT) for Dyskeratosis Congenita or SAA
NCT01001598	Phase 1/2	TERMINATED	Safety and Efficacy Trial of Danazol in Patients With Fanconi Anemia or Dyskeratosis Congenita
NCT00027274	Not specified	RECRUITING	Cancer in Inherited Bone Marrow Failure Syndromes
NCT00499070	Not specified	COMPLETED	Assessing Immune Function in Young Patients With Cytopenia That Did Not Respond to Treatment
NCT01319851	Not specified	TERMINATED	Alefacept and Allogeneic Hematopoietic Stem Cell Transplantation
NCT02162420	Not specified	COMPLETED	Hematopoietic Stem Cell Transplant for Dyskeratosis Congenita or Severe Aplastic Anemia
NCT02720679	Not specified	RECRUITING	Investigation of the Genetics of Hematologic Diseases
NCT03050268	Not specified	RECRUITING	Familial Investigations of Childhood Cancer Predisposition
NCT04959188	Not specified	COMPLETED	Needs Assessment for Individuals and Families Affected by Dyskeratosis Congenita (DC) and Related Telomere Biology Disorders (TBD)
NCT06731036	Not specified	AVAILABLE	Expanded Access to CD34+ Selection Utilizing Miltenyi CliniMACS Prodigy® for Patients Receiving Peripheral Blood Stem Cell Transplantations and Stem Cell Boosts
NCT00176852	Phase 2/3	COMPLETED	Stem Cell Transplant for Hemoglobinopathy
NCT00176878	Phase 2/3	COMPLETED	Stem Cell Transplant for Bone Marrow Failure Syndromes
NCT00305708	Phase 1/2	COMPLETED	Busulfan, Antithymocyte Globulin, and Fludarabine Followed By a Donor Stem Cell Transplant in Treating Young Patients With Blood Disorders, Bone Marrow Disorders, Chronic Myelogenous Leukemia in First Chronic Phase, or Acute Myeloid Leukemia in First Remission
NCT01362595	Phase 1/2	COMPLETED	Pilot Phase I/II Study of Amino Acid Leucine in Treatment of Patients With Transfusion-Dependent Diamond Blackfan Anemia
NCT01419704	Phase 1/2	WITHDRAWN	Phase I/II Pilot Study of Mixed Chimerism to Treat Hemoglobinopathies
NCT01464164	Phase 1/2	TERMINATED	Safety and Efficacy Study of Sotatercept in Adults With Transfusion Dependent Diamond Blackfan Anemia
NCT01966367	Phase 1/2	ACTIVE_NOT_RECRUITING	CD34+ (Non-Malignant) Stem Cell Selection for Patients Receiving Allogeneic Stem Cell Transplantation
NCT02065869	Phase 1/2	TERMINATED	Safety Study of Gene Modified Donor T-cells Following TCRαβ+ Depleted Stem Cell Transplant
NCT03513328	Phase 1/2	COMPLETED	Conditioning Regimen for Allogeneic Hematopoietic Stem-Cell Transplantation
NCT03653338	Phase 1/2	RECRUITING	T-Cell Depleted Alternative Donor Bone Marrow Transplant for Sickle Cell Disease (SCD) and Other Anemias
NCT03733249	Phase 1/2	TERMINATED	Long Term Follow-up Study for Patients Enrolled on the BP-004 Clinical Study
NCT03966053	Phase 1/2	TERMINATED	The Use of Trifluoperazine in Transfusion Dependent DBA
NCT00244010	Not specified	COMPLETED	Partially Matched Stem Cell Transplantation for Patients With Refractory Severe Aplastic Anemia or Refractory Cytopenias
NCT00290628	Not specified	TERMINATED	Donor Umbilical Cord Blood Transplant in Treating Patients With Hematologic Cancer
NCT01114776	Not specified	COMPLETED	Multi-Center Study of Iron Overload: Pilot Study
NCT01758042	Not specified	COMPLETED	Bone Marrow and Kidney Transplant for Patients With Chronic Kidney Disease and Blood Disorders
NCT01913548	Not specified	COMPLETED	Multi-Center Study of Iron Overload: Survey Study (MCSIO)
NCT02179359	Not specified	TERMINATED	Hematopoietic Stem Cell Transplant for High Risk Hemoglobinopathies
NCT05687474	Not specified	COMPLETED	Baby Detect : Genomic Newborn Screening
NCT07186179	Not specified	RECRUITING	Mobilization of CD34+ Peripheral Blood Stem Cells in Patients With Diamond Blackfan Anemia Syndrome (DBAS)

Predicted chemistry — Sugi Predict

The predicted patent-compound landscape for PFAS across ~30M SureChEMBL compounds — explore on Sugi Predict.