DLEU7

Summary

DLEU7 (deleted in lymphocytic leukemia 7, HGNC:17567) is a protein-coding gene on chromosome 13q14.3, encoding Leukemia-associated protein 7 (Q6UYE1).

At a glance

• GWAS associations: 41
• Clinical variants (ClinVar): 36 total
• MANE Select transcript: NM_001306135

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:17567
Approved symbol	DLEU7
Name	deleted in lymphocytic leukemia 7
Location	13q14.3
Locus type	gene with protein product
Status	Approved
Aliases	FLJ44882
Ensembl gene	ENSG00000186047
Ensembl biotype	protein_coding
OMIM	618634
Entrez	220107

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 2 protein_coding, 2 protein_coding_CDS_not_defined, 2 nonsense_mediated_decay

ENST00000400393, ENST00000428276, ENST00000443723, ENST00000504404, ENST00000651265, ENST00000651397

RefSeq mRNA: 2 — MANE Select: NM_001306135 NM_001306135, NM_198989

CCDS: CCDS53869, CCDS76635

Canonical transcript exons

ENST00000504404 — 2 exons

Exon	Start	End
ENSE00001728926	50843188	50843692
ENSE00002085382	50822905	50823520

Expression profiles

Bgee: expression breadth ubiquitous, 125 present calls, max score 80.87.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0138 / max 3.4782, expressed in 5 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
137362	0.2186	122
137364	0.1770	85
137365	0.1663	88
137360	0.0138	5
137363	0.0105	4

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
prefrontal cortex	UBERON:0000451	80.87	gold quality
superior frontal gyrus	UBERON:0002661	79.86	gold quality
frontal cortex	UBERON:0001870	79.38	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	79.21	gold quality
Brodmann (1909) area 9	UBERON:0013540	78.75	gold quality
cortical plate	UBERON:0005343	78.63	gold quality
monocyte	CL:0000576	78.38	gold quality
cerebral cortex	UBERON:0000956	78.29	gold quality
anterior cingulate cortex	UBERON:0009835	78.09	gold quality
leukocyte	CL:0000738	78.06	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	77.88	gold quality
ventricular zone	UBERON:0003053	77.20	gold quality
right frontal lobe	UBERON:0002810	77.07	gold quality
primary visual cortex	UBERON:0002436	75.63	gold quality
hypothalamus	UBERON:0001898	75.03	gold quality
nucleus accumbens	UBERON:0001882	74.48	gold quality
temporal lobe	UBERON:0001871	74.24	gold quality
amygdala	UBERON:0001876	74.17	gold quality
Ammon’s horn	UBERON:0001954	74.10	gold quality
ganglionic eminence	UBERON:0004023	73.94	gold quality
tibial nerve	UBERON:0001323	73.85	gold quality
cerebellar hemisphere	UBERON:0002245	72.77	gold quality
cerebellum	UBERON:0002037	72.76	gold quality
cerebellar cortex	UBERON:0002129	72.75	gold quality
substantia nigra	UBERON:0002038	72.73	gold quality
brain	UBERON:0000955	72.68	gold quality
putamen	UBERON:0001874	72.53	gold quality
caudate nucleus	UBERON:0001873	71.93	gold quality
right hemisphere of cerebellum	UBERON:0014890	71.92	gold quality
bone marrow cell	CL:0002092	68.46	silver quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.31
E-GEOD-111727	no	424.00
E-MTAB-8060	no	38.39

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): RARG

miRNA regulators (miRDB)

92 targeting DLEU7, 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-3689D	100.00	66.14	1181
HSA-MIR-6851-5P	100.00	65.63	1294
HSA-MIR-3162-3P	100.00	65.37	363
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-3617-3P	99.98	67.86	918
HSA-MIR-103A-3P	99.98	69.14	1595
HSA-MIR-107	99.98	69.14	1595
HSA-MIR-7152-3P	99.97	67.47	849
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-2110	99.96	66.68	1930
HSA-MIR-96-5P	99.95	72.80	2140
HSA-MIR-552-5P	99.93	68.56	1583
HSA-MIR-12133	99.92	71.82	2006
HSA-MIR-497-5P	99.92	71.83	2674
HSA-MIR-450B-5P	99.92	71.48	3175
HSA-MIR-1271-5P	99.91	71.99	1972
HSA-MIR-10523-5P	99.91	69.22	2038
HSA-MIR-10527-5P	99.91	72.28	3754
HSA-MIR-15A-5P	99.90	72.80	2787
HSA-MIR-15B-5P	99.90	72.78	2798
HSA-MIR-16-5P	99.90	72.80	2780
HSA-MIR-195-5P	99.90	72.81	2805
HSA-MIR-424-5P	99.89	71.90	2641
HSA-MIR-6838-5P	99.89	71.94	2690
HSA-MIR-182-5P	99.87	74.03	2589
HSA-MIR-4503	99.85	71.45	1869
HSA-MIR-6079	99.84	68.54	1170
HSA-MIR-8080	99.82	67.52	1342

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Dleu7	ENSMUSG00000048281
rattus_norvegicus	Dleu7	ENSRNOG00000009181

Protein

Protein identifiers

Leukemia-associated protein 7 — Q6UYE1 (reviewed: Q6UYE1)

Alternative names: Deleted in lymphocytic leukemia 7

All UniProt accessions (3): A0A994J5B2, Q6UYE1, A0A994J7M1

UniProt curated annotations — full annotation on UniProt →

Tissue specificity. Ubiquitous.

Isoforms (2)

UniProt ID	Names	Canonical?
Q6UYE1-1	1	yes
Q6UYE1-2	2

RefSeq proteins (2): NP_001293064, NP_945340 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR031510	DLEU7	Family

Pfam: PF15760

UniProt features (4 total): chain 1, region of interest 1, splice variant 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6UYE1-F1	75.45	0.47

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 88 (showing top): TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, ATGTTAA_MIR302C, chr13q14, MEISSNER_NPC_HCP_WITH_H3K4ME2, MIKKELSEN_MEF_HCP_WITH_H3K27ME3, DELACROIX_RAR_BOUND_ES, GSE13522_CTRL_VS_T_CRUZI_BRAZIL_STRAIN_INF_SKIN_UP, GLI1_TARGET_GENES, NFKBIA_TARGET_GENES, MIR548AJ_3P_MIR548X_3P, MIR548AE_3P_MIR548AQ_3P, MIR548AH_3P_MIR548AM_3P, MIR548J_3P, MIR570_3P, MIR95_5P

GO Biological Process (1): biological_process (GO:0008150)

GO Molecular Function (1): molecular_function (GO:0003674)

GO Cellular Component (1): cellular_component (GO:0005575)

Protein interactions and networks

STRING

432 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DLEU7	TNFRSF13B	O14836	510
DLEU7	OR10A2	Q9H208	502
DLEU7	TNFRSF17	Q02223	491
DLEU7	KCNRG	Q8N5I3	485
DLEU7	KLHL35	Q6PF15	470
DLEU7	EBPL	Q9BY08	466
DLEU7	GASK1B	Q6UWH4	449
DLEU7	SPRYD7	Q5W111	448
DLEU7	RNASEH2B	Q5TBB1	445
DLEU7	DIP2C	Q9Y2E4	443
DLEU7	ADAM30	Q9UKF2	442
DLEU7	ANKS1B	Q7Z6G8	426
DLEU7	CABLES1	Q8TDN4	422
DLEU7	KPNA3	O00505	416
DLEU7	GOLT1A	Q6ZVE7	408

IntAct

2 interactions, top by confidence:

A	B	Type	Score
TTC3	DLEU7	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (1): DLEU7 (Two-hybrid)

ESM2 similar proteins: A0A1B0GTK4, A0A1B0GTK5, A0JNL8, A2RUT3, A4D250, B2KGE5, F1MQW7, F2Z3F1, F5HHT4, O93195, O95411, P04610, P05905, P0C733, P0C7M3, P0DP71, P16722, P17758, P47939, P47940, P57738, Q0VD86, Q1HVB5, Q1RN00, Q1X6Y7, Q1X6Z1, Q1X6Z2, Q3ZN08, Q5PR19, Q5PXH1, Q5TC04, Q5TEZ4, Q64902, Q66669, Q66HF0, Q67863, Q6DGF6, Q6UYE1, Q7L4S7, Q8AZJ3

Diamond homologs: Q6UYE1, Q8CHZ8

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	35
Likely benign	0
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

1185 predictions. Top by Δscore:

Variant	Effect	Δscore
13:50843185:CACCT:C	donor_loss	1.0000
13:50843186:A:AC	donor_gain	1.0000
13:50843187:C:CC	donor_gain	1.0000
13:50843187:CCTT:C	donor_gain	1.0000
13:50730080:A:AC	donor_gain	0.9900
13:50730081:C:CC	donor_gain	0.9900
13:50730081:CTATT:C	donor_gain	0.9900
13:50822135:AGTTC:A	donor_gain	0.9900
13:50843186:AC:A	donor_gain	0.9900
13:50843186:ACCTT:A	donor_gain	0.9900
13:50843187:CC:C	donor_gain	0.9900
13:50843187:CCT:C	donor_gain	0.9900
13:50843187:CCTTC:C	donor_gain	0.9900
13:50730081:CTA:C	donor_gain	0.9700
13:50822135:AGTT:A	donor_gain	0.9700
13:50823361:C:CT	donor_gain	0.9700
13:50823362:T:TT	donor_gain	0.9700
13:50823516:CTATC:C	acceptor_gain	0.9700
13:50823274:A:C	donor_gain	0.9600
13:50823297:C:CA	donor_gain	0.9600
13:50829745:T:A	donor_gain	0.9600
13:50843186:A:T	donor_gain	0.9600
13:50823409:T:TA	donor_gain	0.9500
13:50733889:T:TA	donor_gain	0.9400
13:50808685:C:CT	acceptor_gain	0.9400
13:50823357:CAGG:C	donor_gain	0.9400
13:50730081:CT:C	donor_gain	0.9300
13:50795497:G:C	acceptor_gain	0.9300
13:50817196:T:TA	donor_gain	0.9300
13:50843184:TCAC:T	donor_gain	0.9300

AlphaMissense

1414 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
13:50823507:A:G	F158S	0.998
13:50823504:C:A	R159I	0.994
13:50823506:A:C	F158L	0.994
13:50823506:A:T	F158L	0.994
13:50823507:A:C	F158C	0.994
13:50823508:A:G	F158L	0.994
13:50823426:A:G	L185S	0.993
13:50823438:G:T	A181D	0.993
13:50823496:A:G	C162R	0.993
13:50823495:C:T	C162Y	0.992
13:50823504:C:G	R159T	0.992
13:50843188:C:A	K153N	0.992
13:50843188:C:G	K153N	0.992
13:50823414:A:T	V189D	0.991
13:50823503:T:A	R159S	0.991
13:50823503:T:G	R159S	0.991
13:50823515:A:C	S155R	0.991
13:50823515:A:T	S155R	0.991
13:50823517:T:G	S155R	0.991
13:50843242:C:A	E135D	0.991
13:50843242:C:G	E135D	0.991
13:50843255:A:G	L131P	0.991
13:50823458:A:C	F174L	0.990
13:50823458:A:T	F174L	0.990
13:50823460:A:G	F174L	0.990
13:50823494:G:C	C162W	0.990
13:50843585:A:G	L21S	0.987
13:50843597:G:T	A17D	0.987
13:50823348:A:G	L211S	0.986
13:50823417:A:T	I188K	0.986

dbSNP variants (sampled 300 via entrez): RS1000017927 (13:50800841 T>C), RS1000023871 (13:50784235 A>G), RS1000074150 (13:50821492 G>A), RS1000103001 (13:50820935 A>C,T), RS1000145862 (13:50821739 AAAC>A), RS1000151143 (13:50736714 T>C), RS1000189403 (13:50765564 G>C,T), RS1000197996 (13:50783748 C>T), RS1000216601 (13:50771595 G>A), RS1000251833 (13:50790568 GTC>G), RS1000312834 (13:50783520 A>T), RS1000328911 (13:50748814 C>T), RS1000368163 (13:50725823 T>TTTTTTTA), RS1000380352 (13:50789814 G>A), RS1000382818 (13:50748543 A>G)

Disease associations

OMIM: gene MIM:618634 | disease phenotypes:

GenCC curated gene-disease

Mondo (1): primary ovarian failure (MONDO:0005387)

Orphanet (1): NON RARE IN EUROPE: Primary ovarian failure (Orphanet:619)

HPO phenotypes

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

GWAS associations

41 associations (top):

Study	Trait	p-value
GCST000174_9	Height	7.000000e-09
GCST000175_23	Height	8.000000e-06
GCST000372_15	Height	4.000000e-10
GCST000817_72	Height	1.000000e-45
GCST001444_33	Pulmonary function decline	5.000000e-06
GCST001876_10	Pubertal anthropometrics	5.000000e-06
GCST001956_5	Height	2.000000e-24
GCST002031_7	Primary tooth development (number of teeth)	3.000000e-08
GCST002647_102	Height	1.000000e-69
GCST002702_100	Height	5.000000e-06
GCST002931_13	Aluminium levels	4.000000e-06
GCST004066_119	Hip circumference	2.000000e-07
GCST004066_44	Hip circumference	3.000000e-12
GCST004067_134	Hip circumference adjusted for BMI	3.000000e-07
GCST004067_200	Hip circumference adjusted for BMI	5.000000e-11
GCST004067_90	Hip circumference adjusted for BMI	4.000000e-15
GCST004611_194	High light scatter reticulocyte count	1.000000e-12
GCST004612_128	High light scatter reticulocyte percentage of red cells	1.000000e-13
GCST004619_5	Reticulocyte fraction of red cells	3.000000e-11
GCST004622_125	Reticulocyte count	1.000000e-09
GCST005531_80	Multiple sclerosis	8.000000e-07
GCST007052_9	Lipoprotein (a) levels	4.000000e-07
GCST007847_106	Type 2 diabetes	5.000000e-09
GCST008163_403	Height	2.000000e-06
GCST008839_344	Height	1.000000e-20
GCST009152_7	Triglyceride levels	1.000000e-08
GCST010219_16	Attention deficit hyperactivity disorder (inattention symptoms)	8.000000e-08
GCST012227_584	Hip circumference adjusted for BMI	4.000000e-08
GCST012227_596	Hip circumference adjusted for BMI	2.000000e-08
GCST012227_597	Hip circumference adjusted for BMI	1.000000e-09

EFO canonical traits (10, from GWAS)

EFO ID	Trait name
EFO:0004314	forced expiratory volume
EFO:0001382	puberty
EFO:0008039	BMI-adjusted hip circumference
EFO:0007986	reticulocyte count
EFO:0006925	lipoprotein A measurement
EFO:0004530	triglyceride measurement
EFO:0004348	hematocrit
EFO:0004509	hemoglobin measurement
EFO:0004587	lymphocyte count
EFO:0007984	platelet component distribution width

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D016649	Primary Ovarian Insufficiency	C12.050.351.500.056.630.750; C12.100.250.056.630.750; C19.391.630.750

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs797519	DLEU7		0.00	0

CTD chemical–gene interactions

5 total (human), top 5 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
ethyl-p-hydroxybenzoate	decreases expression	1
S-(1,2-dichlorovinyl)cysteine	increases expression, affects response to substance	1
CGP 52608	affects binding, increases reaction	1
Benzo(a)pyrene	increases methylation	1
Lipopolysaccharides	affects response to substance, increases expression, decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00417066	PHASE4	COMPLETED	Flexible GnRH Antagonist vs Flare up GnRH Agonist Protocol in Poor Responders
NCT00732693	PHASE4	COMPLETED	Evaluation of Physiologic and Standard Sex Steroid Replacement Regimens in Women With Premature Ovarian Failure
NCT00837616	PHASE4	COMPLETED	Estrogen Dosing in Turner Syndrome: Pharmacology and Metabolism
NCT01853501	PHASE4	UNKNOWN	Effects of ADSC Therapy in Women With POF
NCT02783937	PHASE4	COMPLETED	Filgrastim for Premature Ovarian Insufficiency
NCT03535480	PHASE4	UNKNOWN	Autologous Bone Marrow Stem Cell Ovarian Transplantation to Restore Ovarian Function in Premature Ovarian Failure
NCT00140998	PHASE3	COMPLETED	Estrogen Treatment (Oral vs. Patches) in Turner Syndrome
NCT00001951	PHASE2	COMPLETED	Hormone Replacement in Young Women With Premature Ovarian Failure
NCT00370019	PHASE2	WITHDRAWN	Effects of an Estrogen Replacement Therapy Skin Patch on Ovulation in Women With Premature Ovarian Failure
NCT00429494	PHASE2	COMPLETED	GnRH Analogue for Ovarian Function Preservation in Hematopoietic Stem Cell Transplantation Patients
NCT03816852	PHASE2	SUSPENDED	The Safety and Efficiency Study of Mesenchymal Stem Cell (19#iSCLife®-POI) in Premature Ovarian Insufficiency
NCT04536467	PHASE2	UNKNOWN	Prevention of Chemotherapy-Induced Ovarian Failure With Goserelin in Premenopausal Lymphoma Patients
NCT06117982	PHASE2	COMPLETED	The Impact of Granulocyte Colony Stimulating Factor on Premature Ovarian Insufficiency
NCT02912104	PHASE1	COMPLETED	A Therapeutic Trial of Human Amniotic Epithelial Cells Transplantation for Primary Ovarian Failure
NCT03178695	PHASE1	COMPLETED	Inovium Ovarian Rejuvenation Trials
NCT04815213	PHASE1	ACTIVE_NOT_RECRUITING	The Use of Expandeded Mesenchymal Stromal Cells (MSC) in Premature Ovarian Failure (POF) in Adult Humans
NCT05138367	PHASE1	COMPLETED	Effects of UCA-PSCs in Women With POF
NCT06132542	PHASE1	UNKNOWN	Autologous ADMSC Transplantation in Patients With POI
NCT00948857	PHASE2/PHASE3	TERMINATED	Dehydroepiandrosterone (DHEA) Treatment and Premature Ovarian Failure (POF)
NCT04031456	PHASE2/PHASE3	RECRUITING	Autologous PRP Infusion May Restore Ovarian Function and May Promote Folliculogenesis in POI Patients
NCT02043743	PHASE1/PHASE2	UNKNOWN	Autologous Stem Cells Transplantation in Patients With Idiopathic and Drug Induced Premature Ovarian Failure
NCT02062931	PHASE1/PHASE2	UNKNOWN	Autologous Mesenchymal Stem Cells Transplantation In Women With Premature Ovarian Failure
NCT02151890	PHASE1/PHASE2	COMPLETED	Pregnancy After Stem Cell Transplantation in Premature Ovarian Failure
NCT02372474	PHASE1/PHASE2	COMPLETED	It is a Real The First Baby Of Autologous Stem Cell Therapy in Premature Ovarian Failure
NCT02603744	PHASE1/PHASE2	UNKNOWN	Autologous Adipose Derived Mesenchymal Stromal Cells Transplantation in Women With Premature Ovarian Failure (POF)
NCT02644447	PHASE1/PHASE2	COMPLETED	Transplantation of HUC-MSCs With Injectable Collagen Scaffold for POF
NCT03069209	PHASE1/PHASE2	UNKNOWN	Autologous Bone Marrow-Derived Stem Cell Transplantation in Patients With Premature Ovarian Failure (POF)
NCT03985462	PHASE1/PHASE2	WITHDRAWN	Very Small Embryonic-like Stem Cells for Ovary
NCT04009473	PHASE1/PHASE2	UNKNOWN	Stem Cell Therapy and Growth Factor Ovarian in Vitro Activation
NCT04071574	PHASE1/PHASE2	COMPLETED	Comparative Study on the Efficacy of Ovarian Stimulation Protocols on the Success Rate of ICSI in Female Infertility
NCT04922398	PHASE1/PHASE2	UNKNOWN	Ovarian Injection of PRP (Platelet -Rich Plasma) Vs Normal Saline in Premature Ovarian Insufficiency
NCT05462379	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	Autologous Heterotopic Fresh Ovarian Graft in Woman With LACC Eligible for Pelvic Radiotherapy Treatment.
NCT06202547	PHASE1/PHASE2	UNKNOWN	Intra-ovarian Injection of MSC-EVs in Idiopathic Premature Ovarian Failure
NCT01129947	EARLY_PHASE1	WITHDRAWN	The Use of DHEA in Women With Premature Ovarian Failure
NCT05522634	EARLY_PHASE1	UNKNOWN	A Clinical Study of Chinese Herbal Compound TJAOA101 in the Treatment of Premature Ovarian Insufficiency
NCT07308327	EARLY_PHASE1	ACTIVE_NOT_RECRUITING	The Influence of Gut Microbiota on Ovarian Function: A Single-center, Randomized,Double Blind, Parallel-controlled, Exploratory Clinical Trial
NCT00001275	Not specified	COMPLETED	Ovarian Follicle Function in Patients With Primary Ovarian Failure
NCT00001306	Not specified	COMPLETED	Steroid Therapy in Autoimmune Premature Ovarian Failure
NCT00006156	Not specified	COMPLETED	Feasibility Study for Development of an Early Test for Ovarian Failure
NCT00119925	Not specified	UNKNOWN	‘SPRING’-Study: Subfertility Guidelines: Patient Related Implementation in the Netherlands Among Gynaecologists