◎ Sugi Atlas

Atlas / Gene / C11orf65

C11orf65

gene
On this page

Also known as MGC33948MFI

Summary

C11orf65 (chromosome 11 open reading frame 65, HGNC:28519) is a protein-coding gene on chromosome 11q22.3, encoding Protein MFI (Q8NCR3). Acts as an inhibitor of mitochondrial fission.

Predicted to be involved in negative regulation of mitochondrial fission and negative regulation of protein targeting to mitochondrion. Predicted to be located in cytosol and mitochondrial outer membrane.

Source: NCBI Gene 160140 — RefSeq curated summary.

At a glance

  • GWAS associations: 23
  • Clinical variants (ClinVar): 1,114 total — 132 pathogenic, 23 likely-pathogenic
  • Phenotypes (HPO): 1
  • MANE Select transcript: NM_152587

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:28519
Approved symbolC11orf65
Namechromosome 11 open reading frame 65
Location11q22.3
Locus typegene with protein product
StatusApproved
AliasesMGC33948, MFI
Ensembl geneENSG00000166323
Ensembl biotypeprotein_coding
Entrez160140

Gene structure

Transcript identifiers

Ensembl transcripts: 11 — 9 protein_coding, 1 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000393084, ENST00000524755, ENST00000525729, ENST00000526725, ENST00000527531, ENST00000529391, ENST00000533583, ENST00000615746, ENST00000874861, ENST00000874862, ENST00000874863

RefSeq mRNA: 3 — MANE Select: NM_152587 NM_001330368, NM_001351110, NM_152587

CCDS: CCDS81622, CCDS8340

Canonical transcript exons

ENST00000393084 — 9 exons

ExonStartEnd
ENSE00003521204108393208108393378
ENSE00003841720108382755108383175
ENSE00003847899108467471108467529
ENSE00003890857108407096108407149
ENSE00003892310108406763108406963
ENSE00003892662108461479108461568
ENSE00003892699108385920108385975
ENSE00003893392108405429108405559
ENSE00003894610108431746108431838

Expression profiles

Bgee: expression breadth ubiquitous, 163 present calls, max score 95.45.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 4.7032 / max 81.5612, expressed in 1477 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter IDTPM avgSamples expressed
1221462.25731144
1221441.6010591
1221450.7268271
1221430.118249

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
spermCL:000001995.45gold quality
left testisUBERON:000453393.49gold quality
right testisUBERON:000453492.91gold quality
testisUBERON:000047391.22gold quality
male germ line stem cell (sensu Vertebrata) in testisCL:0000089 ∩ UBERON:000047388.68gold quality
primordial germ cell in gonadCL:0000670 ∩ UBERON:000099188.60gold quality
adult organismUBERON:000702380.12gold quality
calcaneal tendonUBERON:000370173.21gold quality
islet of LangerhansUBERON:000000671.07gold quality
adrenal tissueUBERON:001830370.68gold quality
colonic epitheliumUBERON:000039769.29gold quality
right adrenal glandUBERON:000123369.25gold quality
right uterine tubeUBERON:000130269.24gold quality
right adrenal gland cortexUBERON:003582768.95gold quality
C1 segment of cervical spinal cordUBERON:000646968.45gold quality
left adrenal glandUBERON:000123468.13gold quality
monocyteCL:000057668.04gold quality
secondary oocyteCL:000065567.32silver quality
leukocyteCL:000073867.30gold quality
pancreasUBERON:000126467.02gold quality
adrenal glandUBERON:000236966.86gold quality
right lobe of liverUBERON:000111466.29gold quality
body of pancreasUBERON:000115066.25gold quality
left adrenal gland cortexUBERON:003582565.96gold quality
spinal cordUBERON:000224065.89gold quality
olfactory segment of nasal mucosaUBERON:000538665.58gold quality
adrenal cortexUBERON:000123564.75gold quality
vermiform appendixUBERON:000115463.39gold quality
stromal cell of endometriumCL:000225562.91gold quality
left lobe of thyroid glandUBERON:000112062.81gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

ExperimentMarker?Max mean expression
E-GEOD-134144yes27.70
E-ANND-3no4.36

Regulation

Is transcription factor: no

Cross-species orthologs

2 orthologs

OrganismSymbolGene ID
mus_musculus4930550C14RikENSMUSG00000005131
rattus_norvegicusC8h11orf65ENSRNOG00000007266

Protein

Protein identifiers

Protein MFI — Q8NCR3 (reviewed: Q8NCR3)

Alternative names: Mitochondrial fission factor interactor

All UniProt accessions (3): E9PQ22, Q8NCR3, H0YD27

UniProt curated annotations — full annotation on UniProt →

Function. Acts as an inhibitor of mitochondrial fission. Interacts with MFF and prevents DNM1L recruitment to mitochondria, promoting a more fused mitochondrial network.

Subunit / interactions. Can homodimerize. Interacts with MFF; the interaction inhibits MFF interaction with DNM1L.

Subcellular location. Cytoplasm. Cytosol. Mitochondrion outer membrane.

Tissue specificity. Enriched in the pancreatic beta cell and the testis and is expressed at low levels in other tissues tested.

Isoforms (2)

UniProt IDNamesCanonical?
Q8NCR3-11yes
Q8NCR3-22

RefSeq proteins (3): NP_001317297, NP_001338039, NP_689800* (*=MANE)

Domains & families (InterPro)

UniProt features (3 total): splice variant 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q8NCR3-F174.690.19

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 58 (showing top): chr11q22, GOBP_PROTEIN_TARGETING, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_ORGANELLE, GOBP_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION, GOBP_REGULATION_OF_MITOCHONDRION_ORGANIZATION, GOBP_ORGANELLE_FISSION, GOBP_MITOCHONDRIAL_FISSION, GOBP_NEGATIVE_REGULATION_OF_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION, GOBP_REGULATION_OF_MITOCHONDRIAL_FISSION, GOCC_MITOCHONDRIAL_ENVELOPE, GOBP_REGULATION_OF_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_MITOCHONDRION, GOBP_NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS, GOBP_PROTEIN_TARGETING_TO_MITOCHONDRION, GOBP_NEGATIVE_REGULATION_OF_ORGANELLE_ORGANIZATION, GOBP_REGULATION_OF_PROTEIN_TARGETING

GO Biological Process (2): negative regulation of mitochondrial fission (GO:0090258), obsolete negative regulation of protein targeting to mitochondrion (GO:1903215)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (5): mitochondrial outer membrane (GO:0005741), cytosol (GO:0005829), cytoplasm (GO:0005737), mitochondrion (GO:0005739), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
cellular anatomical structure3
cytoplasm2
mitochondrial fission1
negative regulation of organelle organization1
negative regulation of developmental process1
regulation of mitochondrial fission1
binding1
mitochondrial membrane1
organelle outer membrane1
intracellular anatomical structure1
intracellular membrane-bounded organelle1

Protein interactions and networks

STRING

242 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
C11orf65POGLUT3Q7Z4H8615
C11orf65NPATQ14207493
C11orf65CCDC148Q8NFR7417
C11orf65EXPH5Q8NEV8396
C11orf65FAM135AQ9P2D6375
C11orf65MTRNR2L10P0CJ77368
C11orf65ZNF236Q9UL36347
C11orf65NAA16Q6N069347
C11orf65METTL27Q8N6F8330
C11orf65ZBTB22O15209322
C11orf65CUL5Q93034318
C11orf65SLF1Q9BQI6317
C11orf65C1orf35Q9BU76310
C11orf65KBTBD8Q8NFY9310
C11orf65SLC47A2Q86VL8308

IntAct

50 interactions, top by confidence:

ABTypeScore
HEL-S-72MFIpsi-mi:“MI:0915”(physical association)0.560
MFICALML3psi-mi:“MI:0915”(physical association)0.560
MFICALM1psi-mi:“MI:0915”(physical association)0.560
CALM1MFIpsi-mi:“MI:0915”(physical association)0.560
MFIpsi-mi:“MI:0915”(physical association)0.560
CALML3MFIpsi-mi:“MI:0915”(physical association)0.560
MFIpsi-mi:“MI:0915”(physical association)0.560
ATOSBMFIpsi-mi:“MI:0915”(physical association)0.560
CALRMFIpsi-mi:“MI:0915”(physical association)0.560
MFICDH1psi-mi:“MI:0915”(physical association)0.560
MFIDLSTpsi-mi:“MI:0915”(physical association)0.560
CDK5R1MFIpsi-mi:“MI:0915”(physical association)0.560
MFIAHCYL1psi-mi:“MI:0915”(physical association)0.560
MFINEK7psi-mi:“MI:0915”(physical association)0.560

BioGRID (20): C11orf65 (Two-hybrid), C11orf65 (Two-hybrid), C11orf65 (Two-hybrid), C11orf65 (Two-hybrid), UBE2T (Affinity Capture-MS), LASP1 (Affinity Capture-MS), C11orf65 (Two-hybrid), UBE2T (Affinity Capture-MS), LASP1 (Affinity Capture-MS), C11orf65 (Reconstituted Complex), C11orf65 (Two-hybrid), C11orf65 (Two-hybrid), C11orf65 (Two-hybrid), CALM1 (Two-hybrid), CCDC47 (Proximity Label-MS)

ESM2 similar proteins: A0A1B0GVH7, A0A4X1TZW7, A0A5F8MPE6, E1B836, E1C760, E7EXT2, F7AEX0, O74370, O95391, P21374, P51950, Q20716, Q24276, Q24740, Q28E45, Q2F5J3, Q2KI00, Q3B820, Q3KQD1, Q3TGF2, Q3ZBE5, Q45GW3, Q4R4P2, Q502W7, Q569B9, Q5EAW4, Q5RHY1, Q5U4F3, Q5XI37, Q5XIN9, Q5ZIG2, Q69ZQ2, Q6SP97, Q7L590, Q80ZG5, Q8BHJ9, Q8BRC6, Q8CDN8, Q8NCR3, Q8TC29

Diamond homologs: Q569B9, Q8NCR3, Q9D4W2

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

1114 variants total. Per-class counts are floors (≥ shown; pagination cap):

ClassificationCount (floor)
Pathogenic132
Likely pathogenic23
Uncertain significance496
Likely benign169
Benign18

Top pathogenic / likely-pathogenic (30)

Variant IDHGVSClassification
1068581NM_000051.4(ATM):c.7679dup (p.Leu2561fs)Pathogenic
1069988NM_000051.4(ATM):c.7113T>G (p.Tyr2371Ter)Pathogenic
1070130NM_000051.4(ATM):c.6661G>T (p.Glu2221Ter)Pathogenic
1070471NM_000051.4(ATM):c.8182dup (p.Met2728fs)Pathogenic
1072260NM_000051.4(ATM):c.7760_7761insCAATAACTAAAAATGT (p.Val2587_Pro2588insAsnAsnTer)Pathogenic
1072795NM_000051.4(ATM):c.8663del (p.Ile2888fs)Pathogenic
1075138NM_000051.4(ATM):c.6024del (p.Tyr2009fs)Pathogenic
1075306NM_000051.4(ATM):c.6388_6392del (p.Asn2130fs)Pathogenic
1076423NM_000051.4(ATM):c.8110dup (p.Cys2704fs)Pathogenic
1163050NM_000051.4(ATM):c.6452+1G>CPathogenic
1176293NM_000051.4(ATM):c.6298del (p.Tyr2100fs)Pathogenic
1184926NM_000051.4(ATM):c.8695del (p.Ile2899fs)Pathogenic
127447NM_000051.4(ATM):c.7630-2A>CPathogenic
127453NM_000051.4(ATM):c.7998dup (p.Met2667fs)Pathogenic
1331872NM_000051.4(ATM):c.7282_7283insAA (p.Arg2428fs)Pathogenic
1331958NM_000051.4(ATM):c.8592C>G (p.Tyr2864Ter)Pathogenic
1332009NM_000051.4(ATM):c.6187G>T (p.Gly2063Ter)Pathogenic
1354222NM_000051.4(ATM):c.8686C>T (p.Gln2896Ter)Pathogenic
135775NM_000051.4(ATM):c.6807G>A (p.Gln2269=)Pathogenic
1359901NM_000051.4(ATM):c.6606_6609del (p.Val2201_Tyr2202insTer)Pathogenic
1364211NM_000051.4(ATM):c.7142dup (p.Asn2381fs)Pathogenic
1383209NM_000051.4(ATM):c.7311_7314del (p.Arg2436_Tyr2437insTer)Pathogenic
1401082NM_000051.4(ATM):c.6198+1delPathogenic
141766NM_000051.4(ATM):c.7951C>T (p.Gln2651Ter)Pathogenic
1421780NM_000051.4(ATM):c.7915A>T (p.Lys2639Ter)Pathogenic
142531NM_000051.4(ATM):c.8206_8207dup (p.Asn2736fs)Pathogenic
142570NM_000051.4(ATM):c.6403_6404insCT (p.Leu2135fs)Pathogenic
1431470NM_000051.4(ATM):c.8516dup (p.Asp2841fs)Pathogenic
1433261NM_000051.4(ATM):c.5799G>A (p.Trp1933Ter)Pathogenic
1460103NM_000051.4(ATM):c.8504dup (p.Cys2835fs)Pathogenic

SpliceAI

5752 predictions. Top by Δscore:

VariantEffectΔscore
11:108310158:A:AGacceptor_gain1.0000
11:108310159:G:GGacceptor_gain1.0000
11:108310159:GA:Gacceptor_gain1.0000
11:108310159:GAC:Gacceptor_gain1.0000
11:108310311:AAAAG:Adonor_loss1.0000
11:108310312:AAAGG:Adonor_loss1.0000
11:108310313:AAGGT:Adonor_loss1.0000
11:108310314:AGG:Adonor_loss1.0000
11:108310316:G:GCdonor_loss1.0000
11:108310317:T:Gdonor_loss1.0000
11:108316005:TTATA:Tacceptor_loss1.0000
11:108316006:TATAG:Tacceptor_loss1.0000
11:108316007:ATAGA:Aacceptor_loss1.0000
11:108316008:TA:Tacceptor_loss1.0000
11:108316009:A:AGacceptor_gain1.0000
11:108316009:A:Gacceptor_loss1.0000
11:108316010:G:GAacceptor_gain1.0000
11:108316010:GACT:Gacceptor_gain1.0000
11:108316100:C:Tdonor_gain1.0000
11:108317517:GTCAG:Gdonor_gain1.0000
11:108317521:GGTA:Gdonor_loss1.0000
11:108317522:G:GGdonor_gain1.0000
11:108317522:GTAAG:Gdonor_loss1.0000
11:108319939:T:TAacceptor_gain1.0000
11:108319952:A:AGacceptor_gain1.0000
11:108319953:G:GAacceptor_gain1.0000
11:108319953:GC:Gacceptor_gain1.0000
11:108319953:GCAAA:Gacceptor_gain1.0000
11:108320040:A:Tdonor_gain1.0000
11:108321300:GA:Gacceptor_gain1.0000

AlphaMissense

2097 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
11:108406783:A:GW137R0.998
11:108406783:A:TW137R0.998
11:108393233:A:GW236R0.995
11:108393233:A:TW236R0.995
11:108406781:C:AW137C0.994
11:108406781:C:GW137C0.994
11:108407109:A:GF72S0.993
11:108385942:G:CS255R0.991
11:108385942:G:TS255R0.991
11:108385944:T:GS255R0.991
11:108393257:A:GW228R0.991
11:108393257:A:TW228R0.991
11:108406801:G:TR131S0.991
11:108405442:A:GW183R0.990
11:108405442:A:TW183R0.990
11:108406892:G:CS100R0.990
11:108406892:G:TS100R0.990
11:108406894:T:GS100R0.990
11:108393231:C:AW236C0.989
11:108393231:C:GW236C0.989
11:108406928:A:CF88L0.989
11:108406928:A:TF88L0.989
11:108406930:A:GF88L0.989
11:108406934:C:AK86N0.989
11:108406934:C:GK86N0.989
11:108407112:C:GR71P0.989
11:108385962:A:GW249R0.988
11:108385962:A:TW249R0.988
11:108406778:C:AR138S0.988
11:108406778:C:GR138S0.988

dbSNP variants (sampled 300 via entrez): RS1000002831 (11:108379369 T>C), RS1000007177 (11:108309111 G>A), RS1000008047 (11:108419040 A>G), RS1000032847 (11:108316037 T>A,C), RS1000085382 (11:108432759 T>C), RS1000098120 (11:108360262 T>C), RS1000110836 (11:108406464 C>G,T), RS1000122000 (11:108399751 A>C), RS1000124162 (11:108454352 G>A), RS1000129752 (11:108339269 G>A), RS1000188035 (11:108310000 A>G), RS1000220936 (11:108313457 C>A), RS1000228433 (11:108344001 A>C,G), RS1000241214 (11:108336980 C>T), RS1000244798 (11:108320395 A>C,G)

Disease associations

OMIM: gene `` | disease phenotypes: MIM:208900, MIM:114480, MIM:114500, MIM:167000, MIM:109800, MIM:613659, MIM:604370

GenCC curated gene-disease

Mondo (17): ataxia telangiectasia (MONDO:0008840), hereditary neoplastic syndrome (MONDO:0015356), hereditary breast carcinoma (MONDO:0016419), hereditary breast ovarian cancer syndrome (MONDO:0003582), familial colorectal cancer type X (MONDO:0018604), colorectal cancer (MONDO:0005575), ovarian cancer (MONDO:0008170), ATM-related cancer predisposition (MONDO:0700270), breast cancer (MONDO:0007254), urinary bladder cancer (MONDO:0001187), colon carcinoma (MONDO:0002032), thyroid gland papillary carcinoma (MONDO:0005075), gastric cancer (MONDO:0001056), childhood neoplasm (MONDO:0021079), breast-ovarian cancer, familial, susceptibility to, 1 (MONDO:0011450)

Orphanet (10): Ataxia-telangiectasia (Orphanet:100), Inherited cancer-predisposing syndrome (Orphanet:140162), Hereditary breast cancer (Orphanet:227535), Hereditary breast and/or ovarian cancer syndrome (Orphanet:145), Familial colorectal cancer Type X (Orphanet:440437), Rare ovarian cancer (Orphanet:213500), Differentiated thyroid carcinoma (Orphanet:146), NON RARE IN EUROPE: Colorectal cancer (Orphanet:466667), NON RARE IN EUROPE: Bladder cancer (Orphanet:157980), OBSOLETE: Familial ovarian cancer (Orphanet:213517)

HPO phenotypes

1 total (1 of 1 shown, HPO-id order):

HPOTerm
HP:0002895Papillary thyroid carcinoma

GWAS associations

23 associations (top):

StudyTraitp-value
GCST004603_63Platelet count1.000000e-15
GCST004610_120White blood cell count2.000000e-10
GCST004613_25Sum neutrophil eosinophil counts1.000000e-10
GCST004614_1Granulocyte count1.000000e-10
GCST004620_123Sum basophil neutrophil counts2.000000e-09
GCST004626_85Myeloid white cell count1.000000e-10
GCST004629_96Neutrophil count2.000000e-09
GCST004630_179Mean corpuscular hemoglobin1.000000e-16
GCST005993_54Mean corpuscular hemoglobin1.000000e-11
GCST006011_84Mean corpuscular volume3.000000e-14
GCST006462_38Uterine fibroids3.000000e-12
GCST007250_11Nonunion in individuals with fractures3.000000e-07
GCST009066_40Mosaic loss of chromosome Y (Y chromosome dosage)6.000000e-26
GCST009067_31Mosaic loss of chromosome Y (Y chromosome dosage)9.000000e-31
GCST009158_30Uterine fibroids1.000000e-27
GCST90002388_545Lymphocyte count6.000000e-10
GCST90002392_358Mean corpuscular volume3.000000e-41
GCST90002394_472Monocyte percentage of white cells6.000000e-13
GCST90002395_98Mean platelet volume2.000000e-10
GCST90002398_200Neutrophil count1.000000e-15
GCST90002401_193Platelet distribution width2.000000e-12
GCST90002403_206Red blood cell count7.000000e-25
GCST90002407_336White blood cell count3.000000e-16

EFO canonical traits (12, from GWAS)

EFO IDTrait name
EFO:0004309platelet count
EFO:0004833neutrophil count
EFO:0004842eosinophil count
EFO:0007987granulocyte count
EFO:0005090basophil count
EFO:0004527mean corpuscular hemoglobin
EFO:0009707fractures, ununited
EFO:0007783mosaic loss of chromosome Y measurement
EFO:0004587lymphocyte count
EFO:0007989monocyte percentage of leukocytes
EFO:0007984platelet component distribution width
EFO:0004305erythrocyte count

MeSH disease descriptors (5)

DescriptorNameTree numbers
D001260Ataxia TelangiectasiaC10.228.140.252.190.530.060; C10.562.100; C10.597.350.090.500.530.060; C14.907.823.213; C16.320.080; C16.320.798.250; C18.452.284.060; C20.673.795.250
D061325Hereditary Breast and Ovarian Cancer SyndromeC04.588.180.483; C04.588.322.455.431; C04.700.517; C12.050.351.500.056.630.705.431; C12.050.351.937.418.685.431; C12.100.250.056.630.705.431; C12.900.418.685.431; C16.320.700.517; C17.800.090.500.483; C19.344.410.431; C19.391.630.705.431
D009386Neoplastic Syndromes, HereditaryC04.700; C16.320.700
D010051Ovarian NeoplasmsC04.588.322.455; C12.050.351.500.056.630.705; C12.050.351.937.418.685; C12.100.250.056.630.705; C12.900.418.685; C19.344.410; C19.391.630.705
C562840Breast Cancer, Familial (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

PharmGKB clinical annotations

1 annotations.

VariantTypeLevelDrugsPhenotypes
rs11212617Efficacy4metforminDiabetes Mellitus;Type 2

PharmGKB variants

1 variants.

VariantGenesLevelScore#Clin annotsDrugs
rs11212617ATM, C11orf654-2.001metformin

CTD chemical–gene interactions

9 total (human), top 9 by PubMed support.

ChemicalActions (top 5)PubMed papers
methyleugenoldecreases expression1
di-n-butylphosphoric acidaffects expression1
(+)-JQ1 compoundincreases expression1
Leflunomidedecreases expression1
Cadmiumdecreases expression, increases abundance1
N-Nitrosopyrrolidinedecreases expression1
Tobacco Smoke Pollutiondecreases expression1
Cadmium Chlorideincreases abundance, decreases expression1
Okadaic Aciddecreases expression1

Clinical trials (associated diseases)

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

TrialPhaseStatusTitle
NCT01052623PHASE4UNKNOWNStatus of Growth Hormone/ Insulin-like Growth Factor-1 (GH/IGF-1) Axis and Growth Failure in Ataxia Telangiectasia (AT)
NCT02733679PHASE4COMPLETEDResponse of Individuals With Ataxia-Telangiectasia to Metformin and Pioglitazone
NCT02562170PHASE4COMPLETEDProtexa® Versus TiLoopBra® in Immediate Breast Reconstruction- A Pilot Study
NCT00656409PHASE3COMPLETEDConjugate Pneumococcal Vaccine in Ataxia Telangiectasia (AT)
NCT03563053PHASE3TERMINATEDExtension Treatment Using EryDex System in Patients With AT Who Participated in the ATTeST-IEDAT-02-2015 Study
NCT06193200PHASE3COMPLETEDEvaluate the Neurological Effects of EryDex on Subjects With A-T
NCT06664853PHASE3TERMINATEDOpen-Label Extension of EryDex Study IEDAT-04-2022
NCT06673056PHASE3ACTIVE_NOT_RECRUITINGA Pivotal Study of N-Acetyl-L-Leucine on Ataxia-Telangiectasia (A-T)
NCT00673335PHASE3COMPLETEDLetrozole in Preventing Breast Cancer in Postmenopausal Women With a BRCA1 or BRCA2 Mutation
NCT00685256PHASE3COMPLETEDStandard Genetic Counseling With or Without a Decision Guide in Improving Communication Between Mothers Undergoing BRCA1/2 Testing and Their Minor-Age Children
NCT03162276PHASE3UNKNOWNTrial of Inquiry Based Stress Reduction (IBSR) Program for BRCA1/2 Mutation Carriers
NCT03759678PHASE2TERMINATEDN-Acetyl-L-Leucine for Ataxia-Telangiectasia (A-T)
NCT03962114PHASE2COMPLETEDEffects of Vitamin B3 in Patients With Ataxia Telangiectasia
NCT04513002PHASE2COMPLETEDAtaxia-telangiectasia: Treating Mitochondrial Dysfunction With a Novel Form of Anaplerosis
NCT04870866PHASE2ACTIVE_NOT_RECRUITINGNAD Supplementation to Prevent Progressive Neurological Disease in Ataxia Telangiectasia
NCT04887311PHASE2UNKNOWNMBM-01 (Tempol) for the Treatment of Ataxia Telangiectasia
NCT00253539PHASE2COMPLETEDArzoxifene or Tamoxifen in Preventing Breast Cancer in Premenopausal Women at High Risk for Breast Cancer
NCT00305695PHASE2COMPLETEDZoledronate or Observation in Maintaining Bone Mineral Density in Patients Who Are Undergoing Surgery to Remove Both Ovaries
NCT00321633PHASE2COMPLETEDCarboplatin or Docetaxel in Treating Women With Metastatic Genetic Breast Cancer
NCT01333748PHASE2COMPLETEDSearch Allelic Imbalance of Expression of BRCA Genes in Hereditary Risk of Breast and/or Ovarian Cancer
NCT01367639PHASE2COMPLETEDTrial of Inquiry Based Stress Reduction (IBSR) Program for BRCA1/2 Mutation Carriers
NCT05531890PHASE1UNKNOWNComparative Bioavailability of Betamethasone Oral Solution Metered Spray (GTX-102) in Healthy Subjects
NCT00535119PHASE1COMPLETEDVeliparib, Carboplatin, and Paclitaxel in Treating Patients With Advanced Solid Cancer
NCT00892736PHASE1COMPLETEDVeliparib in Treating Patients With Malignant Solid Tumors That Do Not Respond to Previous Therapy
NCT07215416PHASE1/PHASE2RECRUITINGSafety and Efficacy of Mutation-targeted Precision Genetic Therapy for Ataxia-Telangiectasia (A-T)
NCT00640003EARLY_PHASE1COMPLETEDBaclofen Treatment of Ataxia Telangiectasia
NCT00187057Not specifiedCOMPLETEDStudy for Treatment of Cancer in Children With Ataxia-telangiectasia
NCT00951886Not specifiedUNKNOWNThe Validity of Forced Expiratory Maneuvers in Ataxia Telangiectasia Studied Longitudinally
NCT01075438Not specifiedUNKNOWNImmunogenicity of Pneumococcal Vaccines in Ataxia-telangiectasia Patients
NCT01793168Not specifiedRECRUITINGRare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
NCT01942850Not specifiedCOMPLETEDInternational Ataxia Rating Scale in Younger Patients
NCT02285348Not specifiedCOMPLETEDOxidative Stress, Low Grade Inflammation, Tissue Breakdown and Biomarkers in Cerebrospinal Fluid of A-T
NCT02309632Not specifiedWITHDRAWNPancreatic Cancer Screening of High-Risk Individuals in Arkansas
NCT02345135Not specifiedCOMPLETEDSusceptibility to Infections in Ataxia Telangiectasia
NCT02345200Not specifiedCOMPLETEDBody Composition and Hormonal Status in Ataxia Telangiectasia
NCT03357978Not specifiedUNKNOWNSusceptibility to Infections, Tumor Risk and Liver Disease in Patients With Ataxia Telangiectasia
NCT04037189Not specifiedUNKNOWNTreatment of Leukemia and Lymphoma in Children With Ataxia Telangiectasia
NCT04605523Not specifiedUNKNOWNNeurofilament Light- Chain in Ataxia Telangiectasia
NCT04991701Not specifiedUNKNOWNA National Retrospective Population Based Cohort Study of the Natural History of Ataxia Telangiectasia
NCT05252819Not specifiedCOMPLETEDWhole Body MRI for Cancer Surveillance in A-T

About this page

Generated deterministically by Sugi Atlas from primary biomedical databases via BioBTree. Every record on this page traces to a primary source.

Generated
Atlas version
v1.1.2
BioBTree
v2.0.2

Sources 74

This page pulls from 74 datasets indexed by BioBTree:

alphafoldalphamissenseantibodybgeebgee_evidencebindingdbbiogrid_interactionbrendabrenda_kineticsccdscellosauruschembl_activitychembl_targetciviccivic_evidenceclingen_dosageclingen_gene_validityclinical_trialsclinvarcollectrictd_gene_interactiondbsnpdepmapdiamond_similarityefoensemblentrezesm2_similarityexonfantom5_genefantom5_promotergenccgenerifgogoparentgtopdbgwasgwas_studyhgnchpointactinterprointogenjasparmeshmimmirdbmondomsigdborphanetorthologparalogpdbpfampharmgkb_clinicalpharmgkb_genepharmgkb_guidelinepharmgkb_variantpubchempubchem_activitypubchem_assaypubmedreactomerefseqrhearnacentralscxa_expressionscxa_gene_experimentsignorspliceaistring_interactiontranscriptufeatureuniprot