RNF157

Summary

RNF157 (ring finger protein 157, HGNC:29402) is a protein-coding gene on chromosome 17q25.1, encoding E3 ubiquitin ligase RNF157 (Q96PX1). E3 ubiquitin ligase that ubiquitinates APBB1 for its degradation by the proteasome and thus prevents apoptosis and promotes survival of neurons.

Predicted to enable ubiquitin protein ligase activity. Predicted to be involved in negative regulation of apoptotic process; positive regulation of dendrite extension; and protein ubiquitination. Predicted to be located in cell body. Predicted to be active in cytoplasm.

Source: NCBI Gene 114804 — RefSeq curated summary.

At a glance

• GWAS associations: 7
• Clinical variants (ClinVar): 120 total — 1 pathogenic
• MANE Select transcript: NM_052916

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29402
Approved symbol	RNF157
Name	ring finger protein 157
Location	17q25.1
Locus type	gene with protein product
Status	Approved
Aliases	KIAA1917
Ensembl gene	ENSG00000141576
Ensembl biotype	protein_coding
OMIM	621044
Entrez	114804

Gene structure

Transcript identifiers

Ensembl transcripts: 12 — 8 protein_coding, 3 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000269391, ENST00000319945, ENST00000589317, ENST00000589912, ENST00000591355, ENST00000591615, ENST00000592271, ENST00000592869, ENST00000593155, ENST00000647930, ENST00000970079, ENST00000970080

RefSeq mRNA: 2 — MANE Select: NM_052916 NM_001330501, NM_052916

CCDS: CCDS32740, CCDS82208

Canonical transcript exons

ENST00000269391 — 19 exons

Exon	Start	End
ENSE00000949858	76164748	76164795
ENSE00000949859	76162552	76162623
ENSE00000949860	76161843	76162002
ENSE00000949862	76161535	76161647
ENSE00001058576	76152355	76152465
ENSE00001058579	76154283	76154328
ENSE00001058580	76158393	76158501
ENSE00001058582	76165502	76165545
ENSE00001058584	76166461	76166527
ENSE00001058585	76173702	76173790
ENSE00001118002	76156210	76156321
ENSE00001167011	76167009	76167126
ENSE00001167040	76167651	76167797
ENSE00001194206	76159335	76159573
ENSE00001907496	76142474	76145353
ENSE00002501603	76212364	76212482
ENSE00002766067	76240153	76240493
ENSE00003475346	76155562	76155734
ENSE00003651252	76155252	76155317

Expression profiles

Bgee: expression breadth ubiquitous, 208 present calls, max score 97.36.

FANTOM5 (CAGE): breadth broad, TPM avg 9.7722 / max 170.3981, expressed in 908 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
168184	5.1371	840
168183	3.9325	639
168185	0.3066	139
168178	0.1672	71
168182	0.1433	89
208379	0.0854	33

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
lateral nuclear group of thalamus	UBERON:0002736	97.36	gold quality
right frontal lobe	UBERON:0002810	96.26	gold quality
anterior cingulate cortex	UBERON:0009835	95.99	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	95.80	gold quality
Brodmann (1909) area 9	UBERON:0013540	95.54	gold quality
substantia nigra pars compacta	UBERON:0001965	95.29	gold quality
prefrontal cortex	UBERON:0000451	95.28	gold quality
frontal cortex	UBERON:0001870	95.15	gold quality
neocortex	UBERON:0001950	94.99	gold quality
substantia nigra pars reticulata	UBERON:0001966	94.67	gold quality
gastrocnemius	UBERON:0001388	94.61	gold quality
Ammon’s horn	UBERON:0001954	94.59	gold quality
cerebral cortex	UBERON:0000956	94.53	gold quality
postcentral gyrus	UBERON:0002581	94.42	gold quality
parietal lobe	UBERON:0001872	94.36	gold quality
hindlimb stylopod muscle	UBERON:0004252	94.33	gold quality
lateral globus pallidus	UBERON:0002476	94.26	gold quality
amygdala	UBERON:0001876	94.19	gold quality
putamen	UBERON:0001874	94.05	gold quality
caudate nucleus	UBERON:0001873	93.99	gold quality
substantia nigra	UBERON:0002038	93.77	gold quality
hypothalamus	UBERON:0001898	93.57	gold quality
pons	UBERON:0000988	93.56	gold quality
muscle of leg	UBERON:0001383	93.51	gold quality
midbrain	UBERON:0001891	93.45	gold quality
superior frontal gyrus	UBERON:0002661	93.30	gold quality
skeletal muscle organ	UBERON:0014892	93.21	gold quality
nucleus accumbens	UBERON:0001882	92.99	gold quality
skeletal muscle tissue	UBERON:0001134	92.88	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	92.67	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.69

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

133 targeting RNF157, 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-4476	100.00	68.18	2030
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-432-3P	100.00	67.86	705
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-1193	100.00	65.93	529
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-4533	100.00	69.48	2758
HSA-MIR-4534	99.99	66.58	1907
HSA-MIR-32-5P	99.98	75.21	1964
HSA-MIR-92A-3P	99.98	75.21	1960
HSA-MIR-92B-3P	99.98	75.25	1955
HSA-MIR-103A-3P	99.98	69.14	1595
HSA-MIR-107	99.98	69.14	1595
HSA-MIR-25-3P	99.98	74.60	1817
HSA-MIR-363-3P	99.98	74.72	1821
HSA-MIR-367-3P	99.98	74.83	1819
HSA-MIR-4650-5P	99.98	64.69	999
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-3605-5P	99.96	67.12	932
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-4267	99.96	66.53	2368
HSA-MIR-8082	99.95	67.27	1170
HSA-MIR-6721-5P	99.93	68.92	2981
HSA-MIR-539-5P	99.93	70.30	2855
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-605-3P	99.88	69.22	1833

Literature-anchored findings (GeneRIF, showing 1)

• Data suggest that RNF157 plays role as downstream effector of both PI3K signaling and MAPK signaling in melanoma cell line; regulation of RNF157 expression is cell-cycle-dependent in melanoma cell line; both CDH1 and CDK2 are involved in modulation of RNF157 stability during melanoma cell proliferation. (PI3K = phosphatidylinositol 3-kinase; CDH1 = E-cadherin; CDK2 = cyclin-dependent kinase 2) (PMID:28655764)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	rnf157	ENSDARG00000057481
mus_musculus	Rnf157	ENSMUSG00000052949
rattus_norvegicus	Rnf157	ENSRNOG00000049862
drosophila_melanogaster	Mrgn1	FBGN0030514
caenorhabditis_elegans		WBGENE00007529

Paralogs (1): MGRN1 (ENSG00000102858)

Protein

Protein identifiers

E3 ubiquitin ligase RNF157 — Q96PX1 (reviewed: Q96PX1)

Alternative names: RING finger protein 157, RING-type E3 ubiquitin transferase RNF157

All UniProt accessions (5): A0A3B3ISM3, Q96PX1, K7EKB4, K7ENU4, K7ER42

UniProt curated annotations — full annotation on UniProt →

Function. E3 ubiquitin ligase that ubiquitinates APBB1 for its degradation by the proteasome and thus prevents apoptosis and promotes survival of neurons. Has a dual role in neurons as it is also required for dendrite growth and maintenance for which its ligase activity is not critical. May act as a scaffold molecule to regulate this process. Acts as a downstream effector of the interconnected PI3K and MAPK signaling pathways and thus participates in the regulation of the cell cycle.

Subunit / interactions. Interacts with APBB1. Interacts with CHD1; CHD1-binding controls RNF157 stability. Interacts with ATRN, MEGF8, TECR, MSI2, PLRG1, BYSL, MTERF3, PSMA1, MRPS18B, PRPF4, FASTKD2, SLC25A1, SMU1, CNOT9, MRPS2, MAGT1, FXR2, EMD, PSMD8, HDAC1, RAN, HSD17B12, TXNDC5 and MRPL19.

Subcellular location. Cytoplasm.

Post-translational modifications. Phosphorylation at Ser-660, Ser-661, Ser-662 and Ser-663 downstream of the PI3K and MAPK pathways influences the E3 ligase activity and stability of RNF157 during the cell cycle in an anaphase-promoting complex/cyclosome-CDH1-dependent manner.

Domain organisation. The D-box motifs play a key role in RNF157 stabilization.

Induction. Expression is cell cycle-specific with higher levels in cells arrested in G1/S and G2/M.

Isoforms (2)

UniProt ID	Names	Canonical?
Q96PX1-1	1	yes
Q96PX1-2	2

RefSeq proteins (2): NP_001317430, NP_443148* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001841	Znf_RING	Domain
IPR013083	Znf_RING/FYVE/PHD	Homologous_superfamily
IPR045194	MGRN1/RNF157-like	Family
IPR058981	MGRN1/RNF157-like_N	Domain

Pfam: PF13920, PF26192

UniProt features (20 total): modified residue 4, compositionally biased region 3, sequence variant 3, region of interest 3, short sequence motif 2, initiator methionine 1, chain 1, lipid moiety-binding region 1, splice variant 1, zinc finger region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96PX1-F1	61.06	0.27

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 (5): 660, 661, 662, 663, 2

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 165 (showing top): GSE45365_NK_CELL_VS_CD8A_DC_DN, GOBP_REGULATION_OF_CELL_MORPHOGENESIS, GOBP_NEURON_PROJECTION_EXTENSION, GOBP_REGULATION_OF_DEVELOPMENTAL_GROWTH, GOBP_GROWTH, GOBP_NEUROGENESIS, PATIL_LIVER_CANCER, GOBP_POSITIVE_REGULATION_OF_CELL_GROWTH, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, GOBP_POSITIVE_REGULATION_OF_DEVELOPMENTAL_GROWTH, GOBP_POSITIVE_REGULATION_OF_GROWTH, GOBP_DEVELOPMENTAL_CELL_GROWTH, GOBP_CELL_PROJECTION_ORGANIZATION, GOBP_POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS, BREDEMEYER_RAG_SIGNALING_NOT_VIA_ATM_UP

GO Biological Process (3): protein ubiquitination (GO:0016567), negative regulation of apoptotic process (GO:0043066), positive regulation of dendrite extension (GO:1903861)

GO Molecular Function (5): zinc ion binding (GO:0008270), ubiquitin protein ligase activity (GO:0061630), ubiquitin-protein transferase activity (GO:0004842), transferase activity (GO:0016740), metal ion binding (GO:0046872)

GO Cellular Component (2): cytoplasm (GO:0005737), cell body (GO:0044297)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
protein modification by small protein conjugation	1
apoptotic process	1
regulation of apoptotic process	1
negative regulation of programmed cell death	1
positive regulation of cell growth	1
positive regulation of developmental growth	1
dendrite extension	1
regulation of dendrite extension	1
transition metal ion binding	1
ubiquitin-protein transferase activity	1
ubiquitin-like protein ligase activity	1
ubiquitin-like protein transferase activity	1
catalytic activity	1
cation binding	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

608 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RNF157	MOSMO	Q8NHV5	616
RNF157	MEGF8	Q7Z7M0	575
RNF157	CRACD	Q6ZU35	548
RNF157	PRPSAP1	Q14558	496
RNF157	GPR61	Q9BZJ8	487
RNF157	BORCS8	Q96FH0	479
RNF157	SAMD3	Q8N6K7	450
RNF157	ZNF594	Q96JF6	447
RNF157	UNC45B	Q8IWX7	435
RNF157	ATRN	O75882	434
RNF157	PABIR3	Q6P4D5	424
RNF157	GKAP1	Q5VSY0	383
RNF157	NPIPB15	A6NHN6	380
RNF157	ATRNL1	Q5VV63	374
RNF157	FRMD4A	Q9P2Q2	372

IntAct

5 interactions, top by confidence:

A	B	Type	Score
ANKRD46	ATRN	psi-mi:“MI:0914”(association)	0.640
FBXO2	TMEM131L	psi-mi:“MI:0914”(association)	0.530
RNF157	UBE2G2	psi-mi:“MI:0915”(physical association)	0.370
RNF157	ATRN	psi-mi:“MI:0914”(association)	0.350

BioGRID (48): RNF157 (Affinity Capture-Western), RNF157 (Affinity Capture-Western), ATRN (Affinity Capture-MS), MEGF8 (Affinity Capture-MS), TECR (Affinity Capture-MS), MSI2 (Affinity Capture-MS), PLRG1 (Affinity Capture-MS), BYSL (Affinity Capture-MS), MTERF3 (Affinity Capture-MS), PSMA1 (Affinity Capture-MS), MRPS18B (Affinity Capture-MS), PRPF4 (Affinity Capture-MS), FASTKD2 (Affinity Capture-MS), SLC25A1 (Affinity Capture-MS), SMU1 (Affinity Capture-MS)

ESM2 similar proteins: A0A8M3AJY3, A5WUN7, A6QLR3, B5X1P9, E2AB17, F1MJR8, F1QB81, M0R5D6, O00443, O43310, O60291, P03122, P11299, P15304, P42859, P51111, P59438, Q15018, Q1HKZ5, Q1LUT1, Q1LVP6, Q28HX0, Q2PFD7, Q2T9I9, Q3TCJ1, Q3TEL6, Q3UPF5, Q535K8, Q5E9P1, Q5I0F1, Q5RD34, Q5VUB5, Q5XIQ4, Q5ZHS0, Q61194, Q6GR31, Q6INH1, Q6P4W0, Q6PEE2, Q6UWZ7

Diamond homologs: A8MQ27, O60291, O76050, Q0MW30, Q0WS06, Q3TEL6, Q4FE47, Q557E7, Q5M870, Q5XIQ4, Q6INH1, Q6R7D2, Q7ZUL9, Q84ME1, Q8CJC5, Q8VCM5, Q923S6, Q94HV7, Q96EH8, Q96PX1, Q9BR09, Q9D074, Q9D0S4, M0R5D6, Q8LA32, Q9LFH6, Q9S752, A1E2V0, O10296, P41435, P41437, Q4R1J6, Q62210, Q6UWE0, Q8W5R5, Q95M71, Q95M72, Q96P09, Q9FW70, Q9LYW5

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
Ub:E2	“up-regulates activity”	RNF157	ubiquitination
CDK2	“up-regulates activity”	RNF157	phosphorylation

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	86
Likely benign	4
Benign	3

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
3780010	NM_052916.3(RNF157):c.207+16830_207+16831del	Pathogenic

SpliceAI

4372 predictions. Top by Δscore:

Variant	Effect	Δscore
17:76155651:C:CT	acceptor_gain	1.0000
17:76158388:ATTAC:A	donor_loss	1.0000
17:76158389:TTA:T	donor_loss	1.0000
17:76158390:TA:T	donor_loss	1.0000
17:76158392:C:CG	donor_loss	1.0000
17:76158392:CCT:C	donor_gain	1.0000
17:76159333:A:AC	donor_gain	1.0000
17:76159334:C:CC	donor_gain	1.0000
17:76159574:C:CC	acceptor_gain	1.0000
17:76161528:AACTT:A	donor_loss	1.0000
17:76161529:ACTTA:A	donor_loss	1.0000
17:76161530:CTT:C	donor_loss	1.0000
17:76161531:TTAC:T	donor_loss	1.0000
17:76161532:TA:T	donor_loss	1.0000
17:76161533:A:AC	donor_gain	1.0000
17:76161533:AC:A	donor_loss	1.0000
17:76161534:C:CA	donor_gain	1.0000
17:76161534:CTGG:C	donor_gain	1.0000
17:76161643:GAAGG:G	acceptor_gain	1.0000
17:76161644:AAGG:A	acceptor_gain	1.0000
17:76161645:AGG:A	acceptor_gain	1.0000
17:76161645:AGGC:A	acceptor_loss	1.0000
17:76161646:GG:G	acceptor_gain	1.0000
17:76161646:GGCT:G	acceptor_loss	1.0000
17:76161647:GCT:G	acceptor_loss	1.0000
17:76161648:C:CC	acceptor_gain	1.0000
17:76161650:G:C	acceptor_gain	1.0000
17:76161650:G:GC	acceptor_gain	1.0000
17:76161837:GCTTA:G	donor_loss	1.0000
17:76161838:CTTAC:C	donor_loss	1.0000

AlphaMissense

4430 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:76161632:A:G	L323P	1.000
17:76161635:A:G	L322P	1.000
17:76161643:G:C	F319L	1.000
17:76161643:G:T	F319L	1.000
17:76161645:A:G	F319L	1.000
17:76161850:G:C	C315W	1.000
17:76161851:C:A	C315F	1.000
17:76161851:C:G	C315S	1.000
17:76161851:C:T	C315Y	1.000
17:76161852:A:G	C315R	1.000
17:76161852:A:T	C315S	1.000
17:76161854:A:C	I314S	1.000
17:76161854:A:G	I314T	1.000
17:76161854:A:T	I314N	1.000
17:76161857:G:T	P313H	1.000
17:76161858:G:A	P313S	1.000
17:76161859:G:C	C312W	1.000
17:76161860:C:A	C312F	1.000
17:76161860:C:G	C312S	1.000
17:76161860:C:T	C312Y	1.000
17:76161861:A:C	C312G	1.000
17:76161861:A:G	C312R	1.000
17:76161861:A:T	C312S	1.000
17:76161881:A:G	L305P	1.000
17:76161881:A:T	L305Q	1.000
17:76161892:A:C	C301W	1.000
17:76161893:C:A	C301F	1.000
17:76161893:C:G	C301S	1.000
17:76161893:C:T	C301Y	1.000
17:76161894:A:G	C301R	1.000

dbSNP variants (sampled 300 via entrez): RS1000050774 (17:76144509 G>A), RS1000063858 (17:76217754 C>T), RS1000083361 (17:76195684 G>A), RS1000108575 (17:76178752 C>A,T), RS1000109133 (17:76188417 C>T), RS1000144384 (17:76150352 T>A,C), RS1000169277 (17:76218295 A>T), RS1000172232 (17:76211561 A>G), RS1000207778 (17:76149903 G>A), RS1000286339 (17:76194308 C>G,T), RS1000291720 (17:76162030 A>G,T), RS1000309375 (17:76236377 T>G), RS1000318899 (17:76144598 C>T), RS1000351144 (17:76200114 C>G,T), RS1000376538 (17:76168490 G>C)

Disease associations

OMIM: gene MIM:621044 | disease phenotypes: MIM:194050, MIM:306400

GenCC curated gene-disease

Mondo (2): Williams syndrome (MONDO:0008678), chronic granulomatous disease (MONDO:0018305)

Orphanet (2): Chronic granulomatous disease (Orphanet:379), Williams syndrome (Orphanet:904)

HPO phenotypes

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

GWAS associations

7 associations (top):

Study	Trait	p-value
GCST006396_7	Disrupted circadian rhythm (low relative amplitude of rest-activity cycles)	5.000000e-07
GCST90020025_1460	Waist-to-hip ratio adjusted for BMI	8.000000e-11
GCST90020025_1461	Waist-to-hip ratio adjusted for BMI	2.000000e-15
GCST90020025_1509	Waist-to-hip ratio adjusted for BMI	1.000000e-09
GCST90020027_534	Waist-hip index	2.000000e-09
GCST90020027_535	Waist-hip index	1.000000e-10
GCST90020027_536	Waist-hip index	3.000000e-15

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0007788	BMI-adjusted waist-hip ratio

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D006105	Granulomatous Disease, Chronic	C15.378.553.774.535; C16.320.322.233; C20.673.774.535; C23.550.291.500.423
D018980	Williams Syndrome	C10.597.606.360.970; C14.280.484.048.750.535.960; C16.131.260.970; C16.320.180.970

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects expression	7
(+)-JQ1 compound	decreases expression	2
Arsenic	increases abundance, affects methylation, affects cotreatment, decreases expression	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
methyleugenol	decreases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	affects cotreatment, increases methylation	1
sodium arsenite	affects cotreatment, decreases expression, increases abundance	1
manganese chloride	affects cotreatment, decreases expression, increases abundance	1
potassium chromate(VI)	decreases expression	1
nickel sulfate	increases expression	1
S-(1,2-dichlorovinyl)cysteine	affects cotreatment, decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression, increases expression	1
abrine	decreases expression	1
dorsomorphin	affects cotreatment, decreases expression, increases expression	1
bisphenol S	affects methylation	1
jinfukang	increases expression	1
NSC 689534	affects binding, decreases expression	1
Sunitinib	increases expression	1
Arsenic Trioxide	increases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Leflunomide	increases expression	1
Air Pollutants	decreases expression, increases abundance	1
Benzo(a)pyrene	increases methylation	1
Copper	affects binding, decreases expression	1
Formaldehyde	decreases expression	1
Hydrogen Peroxide	decreases expression	1
Lead	affects expression	1
Lipopolysaccharides	affects cotreatment, decreases expression	1
Manganese	affects cotreatment, decreases expression, increases abundance	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00768820	PHASE4	RECRUITING	The Psychiatric and Cognitive Phenotypes in Velocardiofacial Syndrome
NCT04807517	PHASE4	COMPLETED	Buspirone Treatment of Anxiety in Williams Syndrome
NCT00001317	PHASE4	COMPLETED	A Phase IV Study of Recombinant Human Gamma Interferon in Patients With Chronic Granulomatous Diseases of Childhood
NCT00023192	PHASE3	COMPLETED	Treatment of Chronic Granulomatous Disease With Allogeneic Stem Cell Transplantation Versus Standard of Care
NCT00033982	PHASE3	COMPLETED	Posaconazole to Treat Invasive Fungal Infections
NCT00876200	PHASE2	COMPLETED	Efficacy of Minoxidil in Children With Williams-Beuren Syndrome
NCT06087757	PHASE2	ACTIVE_NOT_RECRUITING	Clemastine Treatment in Individuals With Williams Syndrome
NCT06315699	PHASE2	COMPLETED	Clemastine Fumarate in the Treatment of Neurodevelopmental Delays in Williams Syndrome
NCT00006417	PHASE2	COMPLETED	Modified Stem Cell Transplantation Procedure for Treating Chronic Granulomatous Disease
NCT00578643	PHASE2	COMPLETED	Matched Unrelated or Non-Genotype Identical Related Donor Transplantation For Chronic Granulomatous Disease
NCT00799071	PHASE2	COMPLETED	Pharmacokinetics of Posaconazole in Children With Chronic Granulomatous Disease (CGD)
NCT01821781	PHASE2	ACTIVE_NOT_RECRUITING	Immune Disorder HSCT Protocol
NCT01998633	PHASE2	COMPLETED	Reduced Intensity Conditioning for Hemophagocytic Syndromes or Selected Primary Immune Deficiencies (BMT CTN 1204)
NCT02512679	PHASE2	TERMINATED	Related Hematopoietic Stem Cell Transplantation (HSCT) for Genetic Diseases of Blood Cells
NCT03333486	PHASE2	TERMINATED	Fludarabine Phosphate, Cyclophosphamide, Total Body Irradiation, and Donor Stem Cell Transplant in Treating Patients With Blood Cancer
NCT03547830	PHASE2	UNKNOWN	Plerixafor/G-CSF as Additional Agents for Conditioning Before HSCT in CGD Patients
NCT03983837	PHASE2	COMPLETED	Elemental Diet for Treatment of Inflammatory Bowel Disease in Patients With Chronic Granulomatous Disease
NCT07284641	PHASE2	RECRUITING	Hematopoietic Stem Cell Transplantation (HSCT) for Common Variable Immunodeficiency (CVID) and Other Autoimmune Manifestations of Primary Immune Regulatory Disorders (PIRD)
NCT00001476	PHASE1	COMPLETED	Gene Therapy for Chronic Granulomatous Diseases - Long-term Follow-up
NCT00001515	PHASE1	COMPLETED	Diagnostic Effectiveness of Virtual Bronchoscopy
NCT00001765	PHASE1	COMPLETED	Stem Cell Transplant Following Low-Intensity Chemotherapy to Treat Chronic Granulomatous Disease
NCT01917708	PHASE1	COMPLETED	Bone Marrow Transplant With Abatacept for Non-Malignant Diseases
NCT02609932	PHASE1	COMPLETED	Effect of IFN-γ on Innate Immune Cells
NCT05189925	PHASE1	RECRUITING	NADPH Oxidase Correction in mRNA-transfected Granulocyte-enriched Cells in Chronic Granulomatous Disease (CGD)
NCT00004351	Not specified	COMPLETED	Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion Syndromes
NCT00013962	Not specified	COMPLETED	Vitamin D Metabolism and the Williams Syndrome
NCT01132885	Not specified	RECRUITING	Defining the Brain Phenotype of Children With Williams Syndrome
NCT01793168	Not specified	RECRUITING	Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
NCT01864304	Not specified	COMPLETED	Fat Distribution and Glucose Metabolism in Williams Syndrome
NCT02212314	Not specified	COMPLETED	Response Inhibition Training for Children With Williams Syndrome
NCT02692846	Not specified	COMPLETED	WS-SAVE Study (Williams Syndrome Skin and Vessel Elasticity Study)
NCT02706639	Not specified	COMPLETED	Williams Syndrome (WS) and Supravalvar Aortic Stenosis (SVAS) DNA and Tissue Bank
NCT02840448	Not specified	COMPLETED	Impact of Elastin Mediated Vascular Stiffness on End Organs
NCT03758651	Not specified	COMPLETED	Williams Syndrome Strength, Hormones, Activity & Adiposity, DNA Programming, Eating Study
NCT03827525	Not specified	UNKNOWN	Cognitive and Behavioral Therapy of Anxiety in Williams Syndrome
NCT03836300	Not specified	ENROLLING_BY_INVITATION	Parent and Infant Inter(X)Action Intervention (PIXI)
NCT04051086	Not specified	UNKNOWN	Quantification of Elastin Markers Synthesis in Williams-Beuren Syndrome and 7q11.23 Micro-duplication Syndrome
NCT04095585	Not specified	COMPLETED	Molecular Characterization of Patients Affected by Williams Syndrome and Autism.
NCT04463316	Not specified	RECRUITING	GROWing Up With Rare GENEtic Syndromes
NCT04610424	Not specified	UNKNOWN	Cooperative Parent Mediated Therapy in Children With Fragile X Syndrome and Williams Syndrome