DORIP1

Summary

DORIP1 (dopamine receptor interacting protein 1, HGNC:19834) is a protein-coding gene on chromosome 14q21.2, encoding Dopamine receptor-interacting protein 1 (Q4W4Y0). Could be a regulator of the dopamine receptor signaling pathway.

Predicted to be involved in G protein-coupled dopamine receptor signaling pathway and NMDA selective glutamate receptor signaling pathway.

Source: NCBI Gene 122525 — automated summary from GO annotations (Alliance of Genome Resources).

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 15 total — 1 pathogenic
• GTEx eGene: eQTL in 20 tissues, sQTL in 0 (q < 0.05)
• Constraint (gnomAD): pLI 0.00 (LoF-tolerant), LOEUF 1.45 (unconstrained)
• MANE Select transcript: NM_001017923

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:19834
Approved symbol	DORIP1
Name	dopamine receptor interacting protein 1
Location	14q21.2
Locus type	gene with protein product
Status	Approved
Aliases	DRIP-1, DRIP1
Ensembl gene	ENSG00000179476
Ensembl biotype	protein_coding
Entrez	122525

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 6 protein_coding, 1 protein_coding_CDS_not_defined, 1 retained_intron, 1 nonsense_mediated_decay

MANE Select: ENST00000325192

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

ENST00000325192, ENST00000553841, ENST00000555826, ENST00000557112, ENST00000866782, ENST00000866783, ENST00000866784, ENST00000979982, ENST00001137766

RefSeq mRNA: 1 — MANE Select: NM_001017923 NM_001017923

CCDS: CCDS32069

Canonical transcript exons

ENST00000325192 — 5 exons

Exon	Start	End
ENSE00001228396	44905367	44907257
ENSE00001228402	44900435	44900959
ENSE00001491370	44897275	44897568
ENSE00003495940	44903207	44903296
ENSE00003501409	44904395	44904529

Expression profiles

Bgee: expression breadth ubiquitous, 255 present calls, max score 94.30.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 6.4334 / max 144.9108, expressed in 1702 samples.

Highest expression (Bgee): sperm, secondary oocyte, pancreatic ductal cell, buccal mucosa cell, epithelial cell of pancreas.

Genetic regulation across tissues (GTEx eQTL / sQTL)

DORIP1 is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 20 tissues and its splicing (sQTL) in 0 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

20 significant tissue × QTL associations:

Tissue	QTL	q-value	Slope	Lead variant
Cells Cultured fibroblasts	eqtl	1.1e-05	-0.40	14:44894411:C:T
Esophagus Muscularis	eqtl	1.5e-05	+0.29	14:45116497:C:T
Cells EBV-transformed lymphocytes	eqtl	9.2e-05	-0.76	14:44886789:G:C
Artery Tibial	eqtl	7.0e-04	+0.27	14:44917231:C:CTATA
Pituitary	eqtl	8.4e-04	-1.16	14:44888176:G:A
Adipose Subcutaneous	eqtl	9.5e-04	-0.50	14:44888176:G:A
Skin Sun Exposed Lower leg	eqtl	3.5e-03	-0.50	14:44897312:A:G
Artery Aorta	eqtl	4.4e-03	+0.25	14:44940191:T:C
Pancreas	eqtl	9.7e-03	-0.69	14:44913081:A:G
Brain Frontal Cortex BA9	eqtl	1.1e-02	+1.02	14:44871924:G:T
Stomach	eqtl	1.1e-02	-0.47	14:44897312:A:G
Breast Mammary Tissue	eqtl	1.3e-02	+0.53	14:45047603:A:G
Muscle Skeletal	eqtl	1.4e-02	-0.46	14:44888176:G:A
Lung	eqtl	1.6e-02	+0.40	14:44965988:C:T
Colon Sigmoid	eqtl	1.6e-02	+0.25	14:45017101:C:A
Whole Blood	eqtl	3.1e-02	-0.42	14:45511503:G:T
Colon Transverse	eqtl	3.2e-02	-0.39	14:44827327:T:A
Esophagus Gastroesophageal Junction	eqtl	3.7e-02	+0.15	14:44400615:T:A
Adipose Visceral Omentum	eqtl	4.1e-02	-0.36	14:44913081:A:G
Heart Atrial Appendage	eqtl	4.2e-02	-0.46	14:44888176:G:A

FANTOM5 promoters

2 alternative TSS:

Promoter ID	TPM avg	Samples expressed
139402	4.0316	1595
139403	2.4018	1201

Top tissues by expression

showing 100 of 256 tissues by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
sperm	CL:0000019	94.30	gold quality
secondary oocyte	CL:0000655	91.30	gold quality
pancreatic ductal cell	CL:0002079	90.99	gold quality
buccal mucosa cell	CL:0002336	90.90	silver quality
epithelial cell of pancreas	CL:0000083	85.16	gold quality
cauda epididymis	UBERON:0004360	83.95	gold quality
caput epididymis	UBERON:0004358	83.11	gold quality
calcaneal tendon	UBERON:0003701	82.87	gold quality
myometrium	UBERON:0001296	82.70	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	82.64	gold quality
body of uterus	UBERON:0009853	82.36	gold quality
middle temporal gyrus	UBERON:0002771	82.29	gold quality
oocyte	CL:0000023	82.25	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	82.24	gold quality
popliteal artery	UBERON:0002250	81.94	gold quality
tibial artery	UBERON:0007610	81.93	gold quality
Brodmann (1909) area 23	UBERON:0013554	81.22	gold quality
corpus epididymis	UBERON:0004359	81.12	gold quality
aorta	UBERON:0000947	80.82	gold quality
endothelial cell	CL:0000115	80.64	gold quality
left coronary artery	UBERON:0001626	80.64	gold quality
mammary duct	UBERON:0001765	80.29	gold quality
epithelium of mammary gland	UBERON:0003244	80.24	gold quality
saphenous vein	UBERON:0007318	80.24	gold quality
lower esophagus muscularis layer	UBERON:0035833	80.19	gold quality
lower esophagus	UBERON:0013473	80.17	gold quality
coronary artery	UBERON:0001621	80.14	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	79.91	gold quality
upper arm skin	UBERON:0004263	79.82	gold quality
right coronary artery	UBERON:0001625	79.69	gold quality
smooth muscle tissue	UBERON:0001135	79.68	gold quality
decidua	UBERON:0002450	79.67	gold quality
ascending aorta	UBERON:0001496	79.58	gold quality
muscle layer of sigmoid colon	UBERON:0035805	79.57	gold quality
thoracic aorta	UBERON:0001515	79.50	gold quality
mucosa of stomach	UBERON:0001199	79.14	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	78.99	gold quality
germinal epithelium of ovary	UBERON:0001304	78.81	gold quality
descending thoracic aorta	UBERON:0002345	78.61	gold quality
deltoid	UBERON:0001476	78.55	gold quality
left ovary	UBERON:0002119	78.54	gold quality
cardiac muscle of right atrium	UBERON:0003379	78.49	silver quality
thoracic mammary gland	UBERON:0005200	78.24	gold quality
mammary gland	UBERON:0001911	78.16	gold quality
right ovary	UBERON:0002118	78.13	gold quality
tibia	UBERON:0000979	78.10	gold quality
layer of synovial tissue	UBERON:0007616	78.07	gold quality
palpebral conjunctiva	UBERON:0001812	78.02	gold quality
ovary	UBERON:0000992	77.98	gold quality
right lobe of liver	UBERON:0001114	77.98	gold quality
left ventricle myocardium	UBERON:0006566	77.94	silver quality
jejunal mucosa	UBERON:0000399	77.72	gold quality
uterus	UBERON:0000995	77.62	gold quality
left uterine tube	UBERON:0001303	77.59	gold quality
tendon	UBERON:0000043	77.54	gold quality
right lung	UBERON:0002167	77.33	gold quality
myocardium	UBERON:0002349	77.21	silver quality
subcutaneous adipose tissue	UBERON:0002190	77.19	gold quality
oviduct epithelium	UBERON:0004804	77.14	gold quality
stromal cell of endometrium	CL:0002255	77.00	gold quality
tibial nerve	UBERON:0001323	76.95	gold quality
rectum	UBERON:0001052	76.79	gold quality
testis	UBERON:0000473	76.78	gold quality
female reproductive system	UBERON:0000474	76.74	gold quality
fundus of stomach	UBERON:0001160	76.70	gold quality
ectocervix	UBERON:0012249	76.64	gold quality
adipose tissue	UBERON:0001013	76.61	gold quality
primary visual cortex	UBERON:0002436	76.61	gold quality
endocervix	UBERON:0000458	76.51	gold quality
left testis	UBERON:0004533	76.51	gold quality
fallopian tube	UBERON:0003889	76.31	gold quality
visceral pleura	UBERON:0002401	76.28	gold quality
esophagus	UBERON:0001043	75.95	gold quality
skin of hip	UBERON:0001554	75.82	gold quality
vagina	UBERON:0000996	75.79	gold quality
urinary bladder	UBERON:0001255	75.79	gold quality
urethra	UBERON:0000057	75.78	gold quality
heart	UBERON:0000948	75.74	gold quality
medial globus pallidus	UBERON:0002477	75.63	silver quality
right testis	UBERON:0004534	75.58	gold quality
cardiac atrium	UBERON:0002081	75.44	gold quality
amniotic fluid	UBERON:0000173	75.35	gold quality
right atrium auricular region	UBERON:0006631	75.34	gold quality
body of pancreas	UBERON:0001150	75.18	gold quality
muscle tissue	UBERON:0002385	75.15	gold quality
seminal vesicle	UBERON:0000998	75.11	gold quality
colon	UBERON:0001155	75.10	gold quality
heart left ventricle	UBERON:0002084	75.07	gold quality
apex of heart	UBERON:0002098	75.05	gold quality
kidney epithelium	UBERON:0004819	74.88	silver quality
vastus lateralis	UBERON:0001379	74.84	gold quality
prostate gland	UBERON:0002367	74.84	gold quality
cardiac ventricle	UBERON:0002082	74.82	gold quality
large intestine	UBERON:0000059	74.79	gold quality
occipital lobe	UBERON:0002021	74.76	gold quality
globus pallidus	UBERON:0001875	74.74	silver quality
adipose tissue of abdominal region	UBERON:0007808	74.69	gold quality
quadriceps femoris	UBERON:0001377	74.54	silver quality
uterine cervix	UBERON:0000002	74.52	gold quality
hindlimb stylopod muscle	UBERON:0004252	74.52	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.73

HPA expression

RNA tissue specificity: Low tissue specificity

showing 60 of 76 HPA tissues / cells by nTPM:

Tissue / cell	Axis	nTPM
Cerebellum	tissue	9.9
Testis	tissue	8.0
Cerebral cortex	tissue	7.8
Occipital cortex	tissue	7.8
Hippocampal formation	tissue	7.5
Entorhinal cortex	tissue	7.5
Olfactory bulb	tissue	7.4
Prefrontal cortex	tissue	7.2
Corpus callosum	tissue	7.2
Retrosplenial and cingulate cortex	tissue	7.2
Motor cortex	tissue	7.0
Retrosplenial cortex	tissue	7.0
Midbrain	tissue	6.9
Pons	tissue	6.8
Thalamus	tissue	6.8
Somatosensory cortex	tissue	6.8
Insular cortex	tissue	6.7
Septum	tissue	6.6
Hypothalamus	tissue	6.4
Temporal cortex	tissue	6.3
Amygdala	tissue	6.2
Substantia nigra	tissue	6.2
Periaqueductal gray	tissue	6.0
Superior colliculi	tissue	5.9
Frontal cortex	tissue	5.8
Ovary	tissue	5.6
Medulla oblongata	tissue	5.6
Spinal cord	tissue	5.5
Ventral forebrain	tissue	5.5
Putamen	tissue	5.4
Endometrium 1	tissue	5.2
Adipose tissue	tissue	5.0
Basal ganglia	tissue	4.8
Heart muscle	tissue	4.6
Skeletal muscle	tissue	4.3
Tongue	tissue	4.3
Seminal vesicle	tissue	4.2
Smooth muscle	tissue	4.2
Caudate putamen	tissue	4.2
Small intestine	tissue	4.0
Liver	tissue	3.8
Duodenum	tissue	3.8
Prostate	tissue	3.7
Cervix	tissue	3.6
Epididymis	tissue	3.5
Breast	tissue	3.3
Salivary gland	tissue	3.3
Pancreas	tissue	3.3
Thyroid gland	tissue	3.3
Skin 1	tissue	3.1
Urinary bladder	tissue	3.0
Stomach 1	tissue	2.9
Esophagus	tissue	2.9
Rectum	tissue	2.9
Colon	tissue	2.9
Choroid plexus	tissue	2.8
Spleen	tissue	2.8
Fallopian tube	tissue	2.8
Lung	tissue	2.7
Tonsil	tissue	2.7

Brain sub-regions (HPA Brain Atlas): detected in 189; highest nTPM — White matter (7.2), Subiculum (6.8), Dorsal hippocampus (6.0), Ventral hippocampus (5.7), Dorsal spinal cord (5.5).

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

Targeting DORIP1 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).

showing 30 of 153 miRNAs:

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-4776-3P	100.00	68.73	1340
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-34A-5P	99.99	71.21	1784
HSA-MIR-449A	99.99	71.05	1776
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-186-5P	99.99	70.83	3707
HSA-LET-7A-5P	99.98	72.29	1790
HSA-LET-7B-5P	99.98	72.31	1790
HSA-LET-7C-5P	99.98	72.29	1790
HSA-LET-7E-5P	99.98	72.29	1790
HSA-LET-7F-5P	99.98	72.56	1784
HSA-LET-7G-5P	99.98	72.37	1784

Functional genomics

gnomAD constraint: pLI 1.97e-11, LOEUF 1.45, missense Z -0.0229 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD RMC): no regional variation along ENST00000325192 — one region, missense o/e 1.01.

Literature-anchored findings (GeneRIF, showing 1)

• our data suggest: (i) C14ORF28, GNB2L1, MLLT3, DRD2 and DARPP-32 are important in the pathogenesis of schizophrenia and bipolar disorder (PMID:20874815)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio		ENSDARG00000102021
mus_musculus	Gm527	ENSMUSG00000047227
rattus_norvegicus	Dorip1	ENSRNOG00000023230

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	Q2KIN3	88.7%	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
KLHL28	protein-coding	54813
TOGARAM1	protein-coding	23116
PRPF39-DT	ncRNA	105370474
PRPF39	protein-coding	55015
LINC02302	ncRNA	101927351

Protein

Protein identifiers

Dopamine receptor-interacting protein 1 — Q4W4Y0 (reviewed: Q4W4Y0)

All UniProt accessions (2): G3V4G8, Q4W4Y0

UniProt curated annotations — full annotation on UniProt →

Function. Could be a regulator of the dopamine receptor signaling pathway.

Subunit / interactions. Interacts with DRD1.

RefSeq proteins (1): NP_001017923* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR040029	C14orf28-like	Family

UniProt features (1 total): chain 1

Structure

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q4W4Y0-F1	83.15	0.33

Human Protein Atlas

Protein class: Predicted intracellular proteins, UniProt - Evidence at transcript level

Protein evidence: Evidence at transcript level

Subcellular location (HPA, imaging): cytosol

Antibody reliability (HPA): IF approved

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: 134 (showing top): GSE45365_NK_CELL_VS_CD8_TCELL_DN, GOBP_RESPONSE_TO_NITROGEN_COMPOUND, ACTACCT_MIR196A_MIR196B, TGCACTT_MIR519C_MIR519B_MIR519A, GOBP_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, GOBP_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, GOBP_CELLULAR_RESPONSE_TO_NITROGEN_COMPOUND, BASAKI_YBX1_TARGETS_DN, ACTTTAT_MIR1425P, CTTTGTA_MIR524, GOBP_G_PROTEIN_COUPLED_DOPAMINE_RECEPTOR_SIGNALING_PATHWAY, SENESE_HDAC3_TARGETS_DN, GOBP_GLUTAMATE_RECEPTOR_SIGNALING_PATHWAY, GCACTTT_MIR175P_MIR20A_MIR106A_MIR106B_MIR20B_MIR519D, LIU_PROSTATE_CANCER_DN

GO Biological Process (2): G protein-coupled dopamine receptor signaling pathway (GO:0007212), NMDA selective glutamate receptor signaling pathway (GO:0098989)

GO top-level categories

5 GO namespaces:

Category	Terms
synaptic transmission, dopaminergic	1
G protein-coupled receptor signaling pathway	1
cellular response to dopamine	1
NMDA glutamate receptor activity	1
ionotropic glutamate receptor signaling pathway	1

Protein interactions and networks

STRING

showing 15 of 208 interactions by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DORIP1	KLHL28	Q9NXS3	547
DORIP1	DOCK10	Q96BY6	492
DORIP1	C20orf204	A0A1B0GTL2	424
DORIP1	EOLA2	Q96DE9	424
DORIP1	METTL26	Q96S19	380
DORIP1	TOGARAM1	Q9Y4F4	377
DORIP1	EIF4H	Q15056	328
DORIP1	PRPF39	Q86UA1	320
DORIP1	CC2D2B	Q6DHV5	315
DORIP1	TMEM222	Q9H0R3	315
DORIP1	MKRN2OS	H3BPM6	314
DORIP1	BSDC1	Q9NW68	309
DORIP1	MED1	Q15648	307
DORIP1	BIVM	Q86UB2	303
DORIP1	ICE1	Q9Y2F5	300

Disease & clinical

Genetic variants

Variant evidence for DORIP1: 15 ClinVar records (1 pathogenic / likely pathogenic); 1 GWAS association. Per-variant detail is on Sugi Variant.

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	5
Likely benign	1
Benign	6

Top pathogenic / likely-pathogenic (1)

Showing all 1 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
2426634	NC_000014.8:g.(?44820816)(45645917_?)del	Pathogenic	criteria provided, single submitter	1

Per-variant reference — Sugi Variant

Explore DORIP1’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; 26 predictions of 542):

Position(s)	Effect	Δscore	Sites
14:44897566	donor_gain	1.0000
14:44903205–44903206	acceptor_loss	1.0000	2
14:44904394	acceptor_gain	1.0000
14:44904530–44904531	donor_loss	1.0000	5
14:44905365–44905366	acceptor_loss	1.0000	5
14:44903205–44903206	acceptor_loss	0.9900	2
14:44903297–44903298	donor_loss	0.9900	5
14:44903301	donor_loss	0.9900
14:44904389	acceptor_gain	0.9900
14:44904393–44904394	acceptor_loss	0.9900	3

AlphaMissense

767 missense substitutions predicted likely pathogenic (of 2,054 scored), across 191 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
D60	8	0.964	0.984
F270	8	0.950	0.993
D280	8	0.924	0.959
F217	8	0.923	0.984
F139	8	0.914	0.990
F62	8	0.912	0.989
F224	8	0.911	0.984
F132	8	0.904	0.987
F259	8	0.895	0.981
D130	8	0.882	0.950
N55	8	0.879	0.960
H265	8	0.865	0.957
F194	8	0.858	0.964
F92	8	0.834	0.960
C155	7	0.964	0.985
E135	7	0.951	0.982
W276	7	0.951	0.992
W108	7	0.942	0.992
C160	7	0.938	0.986
W232	7	0.933	0.984

HPA cancer prognostics

RNA cancer specificity: Low cancer specificity

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

1 prognostic cancer types:

Cancer	Prognostic	p-value
Kidney Renal Clear Cell Carcinoma (TCGA)	favorable	0.000238

Disease associations

OMIM: gene `` | disease phenotypes: MIM:227650

GenCC curated gene-disease

Mondo (1): Fanconi anemia (MONDO:0019391)

Orphanet (1): Fanconi anemia (Orphanet:84)

GWAS associations

1 associations:

Study	Trait	p-value
GCST004104_1	Body mass index (change over time) in lung cancer	2e-6

EFO canonical traits (from GWAS)

1 canonical traits:

EFO ID	Trait name
EFO:0005937	longitudinal BMI measurement

MeSH disease descriptors

1 disease descriptors:

Descriptor	Name	Tree numbers
D005199	Fanconi Anemia	C15.378.050.085.080.280; C15.378.190.223.500.500.280; C16.320.077.280; C18.452.284.280

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (CPIC guideline: no)

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Cyclosporine	increases expression	4
Valproic Acid	decreases expression, increases expression, affects expression	3
Nickel	decreases expression	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
p-Chloromercuribenzoic Acid	affects cotreatment, decreases expression	2
aristolochic acid I	decreases expression	1
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide	decreases expression	1
triphenyl phosphate	affects expression	1
trichostatin A	increases expression	1
mono-(2-ethylhexyl)phthalate	increases abundance, increases methylation	1
butyraldehyde	decreases expression	1
ferrous chloride	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
GW 1929	affects binding, increases reaction	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
NSC 689534	affects binding, increases expression	1
Air Pollutants	decreases expression, increases abundance	1
Benzo(a)pyrene	decreases methylation	1
Copper	affects binding, increases expression	1
Demecolcine	increases expression	1
Diethylhexyl Phthalate	increases methylation, increases abundance	1
Estradiol	decreases expression	1
Ethyl Methanesulfonate	increases expression	1
Formaldehyde	increases expression	1
Methyl Methanesulfonate	increases expression	1
Oxygen	increases expression	1
Potassium Chloride	decreases response to substance, decreases expression	1
Quercetin	decreases expression	1
Smoke	decreases expression	1

Clinical trials (associated diseases)

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

showing 60 of 85 trials:

NCT	Phase	Status	Title
NCT06519786	Phase 3	UNKNOWN	Safety and Efficacy of Metformin for Treatment of Cytopenia in Children and Adolescents With Fanconi Anemia
NCT00000603	Phase 2	COMPLETED	Cord Blood Stem Cell Transplantation Study (COBLT)
NCT00001749	Phase 2	COMPLETED	Medical Treatment for Diamond Blackfan Anemia
NCT00004787	Phase 2	COMPLETED	Phase II Pilot Study of Granulocyte Colony-Stimulating Factor for Inherited Bone Marrow Failure Syndromes
NCT00053989	Phase 2	COMPLETED	NMA Allogeneic Hematopoietic Cell Transplant in Hematologic Cancer/Disorders
NCT00084695	Phase 2	UNKNOWN	Umbilical Cord Blood for Stem Cell Transplantation in Treating Young Patients With Malignant or Nonmalignant Diseases
NCT00258427	Phase 2	COMPLETED	Hematopoietic Stem Cell Transplantation in High Risk Patients With Fanconi Anemia
NCT00453388	Phase 2	COMPLETED	Fludarabine Phosphate, Cyclophosphamide, and Total-Body Irradiation Followed by Donor Bone Marrow Transplant, Mycophenolate Mofetil, and Cyclosporine in Treating Patients With Fanconi Anemia
NCT01071239	Phase 2	COMPLETED	Hematopoietic Stem Cell Transplant for Fanconi Anemia
NCT02143830	Phase 2	RECRUITING	HSCT for Patients With Fanconi Anemia Using Risk-Adjusted Chemotherapy
NCT02931071	Phase 2	COMPLETED	Clinical Phase II Trial to Evaluate CD34+ Cells Mobilization and Collection in Patients With Fanconi Anemia for Subsequent Transduction With a Lentiviral Vector Carring FANCA Gene. FANCOSTEM-1
NCT03206086	Phase 2	ACTIVE_NOT_RECRUITING	Eltrombopag for Fanconi Anemia
NCT03398824	Phase 2	COMPLETED	Pilot Study of Metformin for Patients With Fanconi Anemia
NCT03476330	Phase 2	COMPLETED	Quercetin Chemoprevention for Squamous Cell Carcinoma in Patients With Fanconi Anemia
NCT03579875	Phase 2	RECRUITING	Alpha/Beta TCD HCT in Patients With Inherited BMF Disorders
NCT03600909	Phase 2	TERMINATED	A Study of the Effect of Blood Stem Cell Transplant After Chemotherapy Alone in Patients With Fanconi Anemia
NCT04232085	Phase 2	RECRUITING	Regenerative Medicine to Restore Hematopoiesis and Immune Function in Immunodeficiencies and Inherited Bone Marrow Failures
NCT06045052	Phase 2	COMPLETED	Eltrombopag for Treatment of Fanconi Anemia
NCT00001399	Phase 1	COMPLETED	Gene Therapy for the Treatment of Fanconi’s Anemia Type C
NCT00005896	Phase 1	UNKNOWN	Phase I Pilot Study of CD34 Enriched, Fanconi’s Anemia Complementation Group C Gene Transduced Autologous Peripheral Blood Stem Cell Transplantation in Patients With Fanconi’s Anemia
NCT00006127	Phase 1	UNKNOWN	Phase I Study of Amifostine in Patients With Bone Marrow Failure Related to Fanconi’s Anemia
NCT00093743	Phase 1	COMPLETED	Low-Dose Total-Body Irradiation and Fludarabine Phosphate Followed by Unrelated Donor Stem Cell Transplant in Treating Patients With Fanconi Anemia
NCT00243399	Phase 1	COMPLETED	Oxandrolone for the Treatment of Bone Marrow Aplasia in Fanconi Anemia
NCT00272857	Phase 1	COMPLETED	Bone Marrow Cell Gene Transfer in Individuals With Fanconi Anemia
NCT00317876	Phase 1	COMPLETED	Cyclophosphamide in Treating Patients Who Are Undergoing a Donor Bone Marrow Transplant for Fanconi’s Anemia
NCT00586274	Phase 1	TERMINATED	Use of Rft5-Dga to Deplete Alloreactive Cells for Pts With Fanconi Anemia After Haploidentical SCT
NCT01331018	Phase 1	TERMINATED	Gene Therapy for Fanconi Anemia
NCT01720147	Phase 1	COMPLETED	Quercetin in Children With Fanconi Anemia; a Pilot Study
NCT01917708	Phase 1	COMPLETED	Bone Marrow Transplant With Abatacept for Non-Malignant Diseases
NCT00352976	Phase 2/3	COMPLETED	TBI Dose De-escalation for Fanconi Anemia
NCT01019876	Phase 2/3	COMPLETED	Risk-Adapted Allogeneic Stem Cell Transplantation For Mixed Donor Chimerism In Patients With Non-Malignant Diseases
NCT00005898	Phase 1/2	COMPLETED	Phase I/II Study of Total Body Irradiation, Cyclophosphamide, and Fludarabine Followed by Alternate Donor Hematopoietic Cell Transplantation in Patients With Fanconi’s Anemia
NCT00167206	Phase 1/2	TERMINATED	Stem Cell Transplantation for Fanconi Anemia
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
NCT00479115	Phase 1/2	COMPLETED	Mobilization and Collection of Peripheral Blood Stem Cells in Patients With Fanconi Anemia Using G-CSF and AMD3100
NCT00590460	Phase 1/2	TERMINATED	Antibody Conditioning Regimen For Allogeneic Donor Stem Cell Transplantation Of Patients With Fanconi Anemia
NCT00630253	Phase 1/2	COMPLETED	Cytoxan, Fludara, and Antithymocyte Globulin Conditioning Followed By Stem Cell Transplant in Treating Fanconi Anemia
NCT01001598	Phase 1/2	TERMINATED	Safety and Efficacy Trial of Danazol in Patients With Fanconi Anemia or Dyskeratosis Congenita
NCT02065869	Phase 1/2	TERMINATED	Safety Study of Gene Modified Donor T-cells Following TCRαβ+ Depleted Stem Cell Transplant
NCT02678533	Phase 1/2	COMPLETED	Mobilization and Collection of Peripheral Blood Stem Cells in Patients With Fanconi Anemia Using G-CSF and Plerixafor
NCT03157804	Phase 1/2	COMPLETED	Lentiviral-mediated Gene Therapy of Fanconi Anemia Patients Subtype A
NCT03733249	Phase 1/2	TERMINATED	Long Term Follow-up Study for Patients Enrolled on the BP-004 Clinical Study
NCT04522375	Phase 1/2	WITHDRAWN	A Dose Escalation Study of FP-045 in Patients With Fanconi Anemia
NCT04784052	Phase 1/2	RECRUITING	Depleted Donor Stem Cell Transplant in Children and Adults With Fanconi Anemia After Being Conditioned With a Regimen Containing Briquilimab
NCT06648096	Phase 1/2	RECRUITING	Afatinib in Patients With Fanconi Anemia (FA) and Advanced Head and Neck Squamous Cell Carcinoma (HNSCC)
NCT07408583	Phase 1/2	NOT_YET_RECRUITING	Prenatal Transplantation for Fetuses With Fanconi Anemia
NCT00965666	Early Phase 1	COMPLETED	Pilot Study of Etanercept (Enbrel) in Children With Fanconi Anemia
NCT00004378	Not specified	COMPLETED	Stem Cell Transplantation (SCT) for Genetic Diseases
NCT00005891	Not specified	COMPLETED	Study of Allogeneic Bone Marrow Transplantation Following Cyclophosphamide and Radiotherapy in Patients With Fanconi’s Anemia
NCT00005892	Not specified	COMPLETED	Study of Allogeneic Bone Marrow Transplantation Following Cyclophosphamide and Radiotherapy in Patients With Myelodysplastic Syndrome and Acute Leukemia Related to Fanconi’s Anemia
NCT00027274	Not specified	RECRUITING	Cancer in Inherited Bone Marrow Failure Syndromes
NCT00271089	Not specified	COMPLETED	Blood Cell Collection for Future Use in Individuals With Fanconi Anemia
NCT00290628	Not specified	TERMINATED	Donor Umbilical Cord Blood Transplant in Treating Patients With Hematologic Cancer
NCT00499070	Not specified	COMPLETED	Assessing Immune Function in Young Patients With Cytopenia That Did Not Respond to Treatment
NCT00542373	Not specified	ACTIVE_NOT_RECRUITING	Widefield Fluorescence and Reflectance Imaging Systems and Oral Tissue Samples in Monitoring Participants at Risk for Developing Oral Cancer
NCT00595127	Not specified	COMPLETED	Hematopoietic Stem Cell Transplantation for Treatment of Patients With Fanconi Anemia Lacking a Genotypically Identical Donor, Using Total Body Irradiation, Cyclophosphamide and Fludarabine
NCT00856388	Not specified	COMPLETED	Fludarabine Phosphate, Melphalan, Total-Body Irradiation, Donor Stem Cell Transplant in Treating Patients With Hematologic Cancer or Bone Marrow Failure Disorders
NCT00896740	Not specified	TERMINATED	Gene Function in Bone Marrow Cells From Patients With Fanconi Anemia and From Healthy Participants
NCT00899522	Not specified	COMPLETED	Tissue Sample Collection From Patients With Fanconi Anemia
NCT00900055	Not specified	COMPLETED	Research Study in Healthy Volunteers of Patients With Fanconi Anemia, Myeloproliferative Disorders, or Myeloma