Cluster composition

Functions

CategoryNameIntersectionWithQueryPValueGenesInTermGenesInQueryGenesInTermInQueryID
DomainDMAP_binding

DIP2B DIP2A DIP2C

6.44e-075763PF06464
DomainDMAP1-bd

DIP2B DIP2A DIP2C

1.28e-066763IPR010506
DomainDMAP_binding

DIP2B DIP2A DIP2C

1.28e-066763SM01137
DomainARM-like

ATR STAG1 RPTOR NBEAL2 ARFGEF1 ULK4 MEI1

1.14e-04270767IPR011989
DomainAMP-binding

DIP2B DIP2A DIP2C

2.43e-0430763PF00501
DomainAMP-dep_Synth/Lig

DIP2B DIP2A DIP2C

2.43e-0430763IPR000873
DomainARM-type_fold

ATR STAG1 RPTOR NBEAL2 ARFGEF1 ULK4 MEI1

4.56e-04339767IPR016024
PathwayKEGG_MEDICUS_REFERENCE_FANCONI_ANEMIA_PATHWAY

FANCD2 FANCB ATR

4.66e-0519533M47853
Pubmed

CGG-repeat expansion in the DIP2B gene is associated with the fragile site FRA12A on chromosome 12q13.1.

DIP2B DIP2A DIP2C

1.04e-08377317236128
Pubmed

The Fanconi anemia family of genes and its correlation with breast cancer susceptibility and breast cancer features.

FANCD2 FANCB ATR

4.66e-061577319536649
Pubmed

Cloning, genomic organization and expression pattern of a novel Drosophila gene, the disco-interacting protein 2 (dip2), and its murine homolog.

DIP2A DIP2C

4.84e-06277212137943
Pubmed

TMEM16A drives renal cyst growth by augmenting Ca2+ signaling in M1 cells.

PKD1 ANO1

4.84e-06277232185407
Pubmed

TMEM16A chloride channel does not drive mucus production.

ANO1 MUC5AC

4.84e-06277231732694
Pubmed

IL-1β upregulates Muc5ac expression via NF-κB-induced HIF-1α in asthma.

HIF1A MUC5AC

4.84e-06277229031476
Pubmed

Hypoxia induces mucin expression and secretion in human bronchial epithelial cells.

HIF1A MUC5AC

4.84e-06277223084780
Pubmed

Cyst growth in ADPKD is prevented by pharmacological and genetic inhibition of TMEM16A in vivo.

PKD1 ANO1

4.84e-06277232859916
Pubmed

Hypoxia-mediated mechanism of MUC5AC production in human nasal epithelia and its implication in rhinosinusitis.

HIF1A MUC5AC

4.84e-06277224840724
Pubmed

Regulation of cigarette smoke-mediated mucin expression by hypoxia-inducible factor-1α via epidermal growth factor receptor-mediated signaling pathways.

HIF1A MUC5AC

4.84e-06277221544845
Pubmed

ATR couples FANCD2 monoubiquitination to the DNA-damage response.

FANCD2 ATR

4.84e-06277215314022
Pubmed

Elucidation of the Fanconi Anemia Protein Network in Meiosis and Its Function in the Regulation of Histone Modifications.

FANCD2 FANCB ATR

5.72e-061677327760317
Pubmed

Gender-Dependent Phenotype in Polycystic Kidney Disease Is Determined by Differential Intracellular Ca2+ Signals.

PKD1 ANO1

1.45e-05377234199520
Pubmed

Remodeling of Interstrand Crosslink Proximal Replisomes Is Dependent on ATR, FANCM, and FANCD2.

FANCD2 ATR

1.45e-05377231067464
Pubmed

Polycystin-1 is required for stereocilia structure but not for mechanotransduction in inner ear hair cells.

ESPN PKD1

1.45e-05377221865467
Pubmed

Phosphorylation of FANCD2 on two novel sites is required for mitomycin C resistance.

FANCD2 ATR

1.45e-05377216943440
Pubmed

Regulation of the Fanconi Anemia DNA Repair Pathway by Phosphorylation and Monoubiquitination.

FANCD2 ATR

1.45e-05377234828369
Pubmed

HIF1-regulated ATRIP expression is required for hypoxia induced ATR activation.

HIF1A ATR

1.45e-05377223454212
Pubmed

Differential roles for Chk1 and FANCD2 in ATR-mediated signalling for psoralen photoactivation-induced senescence.

FANCD2 ATR

1.45e-05377221995812
Pubmed

Genomic variants in an inbred mouse model predict mania-like behaviors.

FNDC1 CAD UAP1L1

1.79e-052377329768498
Pubmed

The role of the XBP-1/AGR2 signaling pathway in the regulation of airway Mucin5ac hypersecretion under hypoxia.

HIF1A MUC5AC

2.89e-05477231128106
Pubmed

Hypoxia-inducible factor 1alpha is regulated by the mammalian target of rapamycin (mTOR) via an mTOR signaling motif.

HIF1A RPTOR

2.89e-05477217502379
Pubmed

The DNA crosslink-induced S-phase checkpoint depends on ATR-CHK1 and ATR-NBS1-FANCD2 pathways.

FANCD2 ATR

2.89e-05477214988723
Pubmed

FANCI phosphorylation functions as a molecular switch to turn on the Fanconi anemia pathway.

FANCD2 ATR

2.89e-05477218931676
Pubmed

Autism candidate gene DIP2A regulates spine morphogenesis via acetylation of cortactin.

DIP2B DIP2A DIP2C

3.28e-052877331600191
Pubmed

Activation of a metabolic gene regulatory network downstream of mTOR complex 1.

HIF1A RPTOR

4.82e-05577220670887
Pubmed

Combinatorial CRISPR screen identifies fitness effects of gene paralogues.

EAF1 ATR ASF1B ARFGEF1 UAP1L1

6.00e-0518677533637726
Pubmed

Intracellular metabolic adaptation of intraepithelial CD4+CD8αα+ T lymphocytes.

HIF1A RPTOR

7.22e-05677235313689
Pubmed

ATR-ATRIP kinase complex triggers activation of the Fanconi anemia DNA repair pathway.

FANCD2 ATR

7.22e-05677222258451
Pubmed

Germinal centre hypoxia and regulation of antibody qualities by a hypoxia response system.

HIF1A RPTOR

7.22e-05677227501247
Pubmed

X-linked inheritance of Fanconi anemia complementation group B.

FANCD2 FANCB

1.34e-04877215502827
Pubmed

Yeast two-hybrid screening of proteins interacting with plasmin receptor subunit: C-terminal fragment of annexin A2.

SNX17 CTSS

1.72e-04977221963895
Pubmed

mTOR regulates metabolic adaptation of APCs in the lung and controls the outcome of allergic inflammation.

HIF1A RPTOR

1.72e-04977228798047
Pubmed

Interaction between von Hippel-Lindau Protein and Fatty Acid Synthase Modulates Hypoxia Target Gene Expression.

HIF1A CAD

1.72e-04977228775317
Pubmed

The pleckstrin homology domain of phospholipase D1 accelerates EGFR endocytosis by increasing the expression of the Rab5 effector, rabaptin-5.

GPLD1 HIF1A

1.72e-04977226680696
Pubmed

A proteomic analysis of ataxia telangiectasia-mutated (ATM)/ATM-Rad3-related (ATR) substrates identifies the ubiquitin-proteasome system as a regulator for DNA damage checkpoints.

ATR MED1

2.15e-041077217478428
Pubmed

Cdk12 is essential for embryonic development and the maintenance of genomic stability.

FANCD2 ATR

2.15e-041077226658019
Pubmed

Tti1 and Tel2 are critical factors in mammalian target of rapamycin complex assembly.

ATR RPTOR

2.63e-041177220427287
Pubmed

Sonic hedgehog signaling regulates actin cytoskeleton via Tiam1-Rac1 cascade during spine formation.

SCAPER DGKZ

2.63e-041177220654717
Pubmed

The Fanconi anemia pathway promotes replication-dependent DNA interstrand cross-link repair.

FANCD2 FANCB

2.63e-041177219965384
Pubmed

Rheb binds and regulates the mTOR kinase.

ATR RPTOR

3.15e-041277215854902
Pubmed

LncRNA DUXAP9-206 directly binds with Cbl-b to augment EGFR signaling and promotes non-small cell lung cancer progression.

RPTOR ULK4

3.15e-041277230515972
Pubmed

A human ortholog of archaeal DNA repair protein Hef is defective in Fanconi anemia complementation group M.

FANCD2 FANCB

3.15e-041277216116422
Pubmed

HELQ promotes RAD51 paralogue-dependent repair to avert germ cell loss and tumorigenesis.

FANCD2 ATR

3.15e-041277224005329
Pubmed

A glycolytic shift in Schwann cells supports injured axons.

HIF1A RPTOR

3.15e-041277232807950
Pubmed

Mechanism of Ubiquitination and Deubiquitination in the Fanconi Anemia Pathway.

FANCD2 FANCB

3.71e-041377227986371
Pubmed

Tbx5 is required for avian and Mammalian epicardial formation and coronary vasculogenesis.

HIF1A FREM3

4.33e-041477225245104
Pubmed

Cdk12 Regulates Neurogenesis and Late-Arising Neuronal Migration in the Developing Cerebral Cortex.

FANCD2 ATR

4.99e-041577227073218
Pubmed

Esophageal Atresia / Tracheoesophageal Fistula Overview – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY

FANCD2 FANCB

5.69e-041677220301753
Pubmed

Unpackaging the genetics of mammalian fertility: strategies to identify the "reproductive genome".

DNAH1 TDRD12

5.69e-041677229878059
Pubmed

Identifications of novel host cell factors that interact with the receptor-binding domain of the SARS-CoV-2 spike protein.

DHX16 DIP2B DIP2A MTMR12 ATR GAPDHS PARP12

5.98e-0465077738777146
Pubmed

A large family of endosome-localized proteins related to sorting nexin 1.

SNX14 SNX17

6.44e-041777211485546
Pubmed

USP7 represses lineage differentiation genes in mouse embryonic stem cells by both catalytic and noncatalytic activities.

ANKRD31 FANCB KLHL23 PRAMEF2 LHX6 BTN2A1 SLC35G4

7.40e-0467477737196079
Pubmed

Hypoxia-Regulated lncRNA USP2-AS1 Drives Head and Neck Squamous Cell Carcinoma Progression.

HIF1A ATR

8.07e-041977236359803
Pubmed

Tel2 structure and function in the Hsp90-dependent maturation of mTOR and ATR complexes.

ATR RPTOR

8.07e-041977220801936
Pubmed

C5orf51 is a component of the MON1-CCZ1 complex and controls RAB7A localization and stability during mitophagy.

SNX14 YKT6 ZFYVE16 RPTOR SNX17 ARFGEF1

8.94e-0450477634432599
Pubmed

Glomerulocystic kidney disease in mice with a targeted inactivation of Wwtr1.

DCTN5 PKD1

8.96e-042077217251353
Pubmed

A ubiquitin-binding protein, FAAP20, links RNF8-mediated ubiquitination to the Fanconi anemia DNA repair network.

FANCD2 FANCB

8.96e-042077222705371
Pubmed

ETAA1 acts at stalled replication forks to maintain genome integrity.

FANCD2 ATR

9.89e-042177227723720
Pubmed

Evaluating new candidate SNPs as low penetrance risk factors in sporadic breast cancer: a two-stage Spanish case-control study.

FANCD2 ATR MED1

1.03e-038977318950845
Pubmed

Qualitative and quantitative analyses of protein phosphorylation in naive and stimulated mouse synaptosomal preparations.

CACNA1A MAGI2 SACS RPTOR SNX17

1.05e-0334777517114649
Pubmed

DNA-dependent phosphorylation of Chk1 and Claspin in a human cell-free system.

ORC1 ATR

1.09e-032277215707391
Pubmed

Hereditary Ataxia Overview

CACNA1A SNX14 SACS

1.14e-039277320301317
Pubmed

Fanconi Anemia

FANCD2 FANCB

1.19e-032377220301575
Pubmed

A novel missense variant in CUL3 shows altered binding ability to BTB-adaptor proteins leading to diverse phenotypes of CUL3-related disorders.

KLHL23 KLHL22

1.19e-032377233130828
Pubmed

Global genetic analysis in mice unveils central role for cilia in congenital heart disease.

DCTN5 SNX17 PKD1

1.45e-0310077325807483
Pubmed

5-HT(6) receptor recruitment of mTOR as a mechanism for perturbed cognition in schizophrenia.

ATR RPTOR

1.64e-032777223027611
Pubmed

Large-scale characterization of HeLa cell nuclear phosphoproteins.

DHX16 FANCD2 FBXO38 DIP2B ATR RPTOR MED1

1.64e-0377477715302935
Pubmed

The Functional Proximal Proteome of Oncogenic Ras Includes mTORC2.

DIP2B YKT6 CADM4 NBEAL2 SNX17 ARFGEF1

1.66e-0356977630639242
Pubmed

Mouse screen reveals multiple new genes underlying mouse and human hearing loss.

ESPN ORC1 MAGI2 DIP2B COL24A1 DIP2A DCTN5 NBEAL2 PRAMEF2

1.68e-03124277930973865
Pubmed

Genetic and Proteomic Interrogation of Lower Confidence Candidate Genes Reveals Signaling Networks in β-Catenin-Active Cancers.

HIF1A CAD EAF1 DCTN5 PRPF4 MLLT6 MED1 PARP12 DNAH1

1.72e-03124777927684187
Pubmed

Genetic link between renal birth defects and congenital heart disease.

SNX17 PKD1

1.76e-032877227002738
Pubmed

UBR-box containing protein, UBR5, is over-expressed in human lung adenocarcinoma and is a potential therapeutic target.

CAD RPTOR

2.02e-033077232867711
Pubmed

Polymorphic variants in hereditary pancreatic cancer genes are not associated with pancreatic cancer risk.

FANCD2 ATR

2.16e-033177219690177
CoexpressionAtlasdev gonad_e13.5_F_MeioticGermCell_Oct_top-relative-expression-ranked_500

FANCD2 ORC1 FANCB CAD ATR ASF1B SCAPER PARP12 TDRD12

6.73e-06385739gudmap_dev gonad_e13.5_F_MeioticGermCell_Oct_500
CoexpressionAtlasFacebaseRNAseq_e9.5_Olfactory Placode_top-relative-expression-ranked_1000_k-means-cluster#5

COL24A1 FNDC1 KLHL23 EMILIN3 LHX6 CTSS PARP12

2.07e-05244737Facebase_RNAseq_e9.5_Olfactory Placode_1000_K5
ToppCellfacs-Large_Intestine-Distal-18m-Epithelial-enterocyte_of_epithelium_of_large_intestine|Large_Intestine / Large_Intestine_Pancreas_Liver - method, tissue, subtissue, age, lineage, cell ontology and free annotation

ESPN HIF1A ANO1 CTSS PARP12

9.12e-06162775bc63a96ad3ba0b3433e3679d7a005f47709ff384
ToppCell343B-Myeloid-Macrophage-FABP4+_Macrophage_proliferating_2|343B / Donor, Lineage, Cell class and subclass (all cells)

FANCD2 ORC1 FANCB SLC31A2 ASF1B

1.06e-051677757efa0081e79f22b219eac64ffcaedb2179cde299
ToppCellrenal_cortex_nuclei|World / Celltypes from Cells and Nuclei per compartment and clinical group

MAGI2 DIP2B STAG1 SCAPER DIP2C

2.07e-05192775e8cc4d08fcfceeab75a02558817e4ccd7dbafe3a
ToppCellPCW_13-14-Mesenchymal-Mesenchymal_myocytic-mes_proliferating_SM_(20)|PCW_13-14 / Celltypes from embryonic and fetal-stage human lung

FANCD2 ORC1 FANCB ASF1B ANO1

2.17e-05194775590a9d4f054e6a3685daf752c9354650fcc7d18a
ToppCellPCW_05-06-Mesenchymal-Mesenchymal_cycling-mes_proliferating3_(7)|PCW_05-06 / Celltypes from embryonic and fetal-stage human lung

FANCD2 ORC1 FANCB ASF1B MGME1

2.23e-051957751a5e814e12fe37287dbfc58189e1958e2c76b5da
ToppCellTracheal-NucSeq|Tracheal / Cell types per location group and 10X technology with lineage, and cell group designations

MAGI2 DIP2B STAG1 SCAPER DIP2C

2.46e-0519977594b94b17ca18b8dc27b91da1f2ccf89e03cc7035
ToppCellFetal_brain-organoid_Tanaka_cellReport-GW13-Stem_cells|GW13 / Sample Type, Dataset, Time_group, and Cell type.

FANCD2 ORC1 ASF1B MLLT6 MGME1

2.52e-05200775d933978b55fefe52cad599b36f6b47a0c7f71f96
ToppCellFetal_brain-organoid_Tanaka_cellReport-GW13-Stem_cells-Neuroepithelial_cell|GW13 / Sample Type, Dataset, Time_group, and Cell type.

FANCD2 ORC1 ASF1B MLLT6 MGME1

2.52e-052007753d932765c31aef1f80a118d51e8e66c50a758dbb
ToppCellFetal_brain-organoid_Tanaka_cellReport-GW23-Stem_cells-Neuroepithelial_cell|GW23 / Sample Type, Dataset, Time_group, and Cell type.

FANCD2 ORC1 ASF1B MGME1 SLC5A1

2.52e-05200775c9c832f489629b8724501ddfede984b41a7b674d
ToppCellFetal_brain-organoid_Tanaka_cellReport-GW23-Stem_cells|GW23 / Sample Type, Dataset, Time_group, and Cell type.

FANCD2 ORC1 ASF1B MGME1 SLC5A1

2.52e-05200775d7832ab1ed0ff0a6f7e3ac11b2095dc72c90af44
Diseaseskin melanoma (is_marker_for)

FANCD2 HIF1A

4.88e-0413752DOID:8923 (is_marker_for)
DiseaseFanconi anemia

FANCD2 FANCB

5.69e-0414752cv:C0015625
Diseasevenous thromboembolism, fibrinogen measurement

TSPAN15 DIP2B DGKZ

6.72e-0467753EFO_0004286, EFO_0004623
DiseaseBone marrow hypocellularity

FANCD2 FANCB

9.50e-0418752C1855710
DiseaseChronic myeloproliferative disorder

ORC1 ATR

1.06e-0319752C1292778
DiseaseBipolar Disorder

CACNA1A MAGI2 HIF1A DCTN5 MCHR2 ULK4

1.36e-03477756C0005586
DiseaseSeckel syndrome

ORC1 ATR

1.42e-0322752C0265202
Diseasevenous thromboembolism, tissue plasminogen activator measurement

TSPAN15 DGKZ

1.56e-0323752EFO_0004286, EFO_0004791
DiseaseFanconi Anemia

FANCD2 FANCB

1.84e-0325752C0015625
DiseasePancytopenia

FANCD2 FANCB

1.99e-0326752C0030312
DiseaseAcute monocytic leukemia

FANCD2 FANCB

1.99e-0326752C0023465
DiseaseMiller Dieker syndrome

FANCD2 FANCB

2.48e-0329752C0265219

Protein segments in the cluster

PeptideGeneStartEntry
VALNTLCVAIVHYNQ

CACNA1A

496

O00555
SVAVHQACYGIVQVP

MLLT6

31

P55198
IHEGTVLQAVRTCYN

ARFGEF1

166

Q9Y6D6
YLEACVVSVLQIHVT

DHX16

591

O60231
CVLIINHDTGEYVLE

EAF1

86

Q96JC9
QGAEYIDCISNVAHV

PHYKPL

46

Q8IUZ5
VTCVYQLQNGTHVAT

ADAMTS17

886

Q8TE56
VISEHVANYEQCIFG

ANKRD31

981

Q8N7Z5
VLFGVETHVCIQQTA

ISOC1

206

Q96CN7
DVIVYINEVCVLGHT

MAGI2

471

Q86UL8
VQHETLNYIGLLDCV

MGME1

226

Q9BQP7
ENDITLHCVDQIYGV

MTMR12

106

Q9C0I1
HIEGALVIINEYGSC

LRRTM1

496

Q86UE6
VCVNYVVSGIIQHDL

HIF1A

336

Q16665
VARILLQENGHIYVC

MTRR

636

Q9UBK8
QEGHLEVTQYLVQEC

ESPN

181

B1AK53
HYASVISPQVCVALV

OR4K2

131

Q8NGD2
IVQVACQECHLYLVL

GPR119

246

Q8TDV5
VVLVTHQLQYLEFCG

ABCC11

686

Q96J66
VLQAIDSIHQVGVYC

DIP2B

881

Q9P265
TLHGYIESQVQCGQV

LHX6

316

Q9UPM6
TCAVYHRSLIIQQQG

MUC5AC

5531

P98088
SVHIINICAIEDIGY

ANO1

16

Q5XXA6
VCAFYTHVQTVRGVA

FAM170B

106

A6NMN3
CHTVYGIEAVVRSLQ

MEI1

361

Q5TIA1
TLSQEEGDQICLYHI

PARP12

266

Q9H0J9
VVTYVHICATEIIKN

FANCB

236

Q8NB91
CSTEIHIQIGQFVLI

ORC1

41

Q13415
QRVVAIFIHYCDVNG

FBXO38

1166

Q6PIJ6
YICNLAVADLVHIVG

MCHR2

71

Q969V1
IQGLIQVCVYIHQSV

DNAH1

2771

Q9P2D7
GVTVVLITCTYHGQE

ASF1B

91

Q9NVP2
HILVYVLLGCNQEDQ

ATR

1531

Q13535
QQEHADLSVCVVGRY

KLHL22

386

Q53GT1
VGNATACVLHDVIYV

KLHL23

406

Q8NBE8
VQRVTQHKCYIVATV

FCF1

146

Q9Y324
NITVVAVEGCHSFVI

FNDC1

1661

Q4ZHG4
QSLIHVIQVVIGYFI

SLC31A2

96

O15432
FYNVITVCGTNEVRH

C3orf38

301

Q5JPI3
EITCRLHQYDGSIVV

CADM4

41

Q8NFZ8
IDSIHQVGVYCLALV

DIP2C

866

Q9Y2E4
YVVLTQIAHLQRGEC

C1orf53

101

Q5VUE5
VIHNITAQENGTYRC

BTN2A1

111

Q7KYR7
DCVVNAAQIGSYVHV

DCTN5

96

Q9BTE1
SCTQNVNHGVLVVGY

CTSS

271

P25774
YVVHRNVTCILQEGA

EMILIN3

61

Q9NT22
AALGQRTICHYIVEA

DGKZ

866

Q13574
IDSIHQVGVYCLALV

DIP2A

881

Q14689
GQLVVDNHEISVYQC

GAPDHS

136

O14556
LLHEVIVCVGYFTVN

SCAPER

1266

Q9BY12
NNITCVTYHVNIVLE

SACS

366

Q9NZJ4
IRHQVAYNTLIGSCV

MED1

411

Q15648
DTYCQQEVVGALVTH

FANCD2

466

Q9BXW9
EHVYLRAQNCTVTVG

PKD1

1261

P98161
TQDEINRGLICYIHT

FREM3

1376

P0C091
CVYTIPAHQNLVTGV

PRPF4

441

O43172
EAALYGNVQQVVHLC

TDRD12

641

Q587J7
VQVLYGHGAAVSCVA

NBEAL2

2546

Q6ZNJ1
LETLVLEGCQIHYSQ

PRAMEF2

351

O60811
VIVNSYHTGQEACLQ

RPTOR

541

Q8N122
LLTNHYVCEVDGQNV

SDCBP2

226

Q9H190
IVLCVAGVVVHAQEQ

COL24A1

26

Q17RW2
CHVYVRNDSLAGVVI

YKT6

66

O15498
NVLNIGCAYSAVQVV

SLC35G4

111

P0C7Q5
VAYNIHVNGVLHCRV

SNX17

21

Q15036
VREGCHQYSLTIEQL

ZDHHC6

291

Q9H6R6
YQRLHGQLCDCVIVV

ZBTB5

16

O15062
QEGAVHVLQFCLTVE

SNX14

356

Q9Y5W7
QDVIYVRGCTNAVII

TSPAN15

211

O95858
VITENVIVDCSHIQF

GPLD1

201

P80108
AVIVTQHPVANCYVT

UNQ5815/PRO19632

86

Q6UWF5
GVEFVHVYCVDNILV

UAP1L1

246

Q3KQV9
EQIVVQALQCSHYSI

STAG1

731

Q8WVM7
TQHLGIVGECNVQYA

CAD

656

P27708
NVNGIILVTVAVFCH

SLC5A1

646

P13866
FIINCIQVHGQVLYT

WDR86

316

Q86TI4
HLVCIQNDGIYETQA

ZFYVE16

1291

Q7Z3T8
YLCVVAGHQEVATRL

ULK4

491

Q96C45