Cluster composition

Functions

CategoryNameIntersectionWithQueryPValueGenesInTermGenesInQueryGenesInTermInQueryID
GeneOntologyMolecularFunctionsulfur compound transmembrane transporter activity

SLC6A6 SLC26A4

1.07e-0361162GO:1901682
GeneOntologyBiologicalProcesssulfur compound transport

SLC35F3 SLC6A6 SLC26A4

1.62e-0565163GO:0072348
HumanPhenoAbnormal dense granules

HPS5 LYST

7.73e-05982HP:0012484
HumanPhenoAbnormal platelet granules

HPS5 LYST

1.67e-041382HP:0011883
MousePhenoabnormal platelet ADP level

HPS5 LYST

9.65e-067102MP:0009556
MousePhenodecreased platelet ADP level

HPS5 LYST

9.65e-067102MP:0009557
MousePhenoabnormal platelet ATP level

HPS5 LYST

2.07e-0510102MP:0009447
MousePhenodecreased platelet ATP level

HPS5 LYST

2.07e-0510102MP:0009448
MousePhenodecreased susceptibility to atherosclerosis

HPS5 PLA2G15

2.52e-0511102MP:0005341
MousePhenodecreased ear pigmentation

HPS5 LYST

3.03e-0512102MP:0011279
MousePhenoabnormal choroid pigmentation

HPS5 LYST

4.17e-0514102MP:0005100
MousePhenodecreased cellular ATP level

HPS5 LYST

5.50e-0516102MP:0014246
MousePhenodecreased platelet serotonin level

HPS5 LYST

5.50e-0516102MP:0004725
MousePhenoabnormal platelet serotonin level

HPS5 LYST

5.50e-0516102MP:0004723
MousePhenoabnormal cellular ATP level

HPS5 LYST

6.23e-0517102MP:0014244
MousePhenodecreased tail pigmentation

HPS5 LYST

7.00e-0518102MP:0011277
MousePhenoimpaired balance

LYST AK9 SLC26A4

7.26e-05121103MP:0001525
MousePhenoabnormal susceptibility to atherosclerosis

HPS5 PLA2G15

7.83e-0519102MP:0005340
MousePhenodecreased eye pigmentation

HPS5 LYST

1.16e-0423102MP:0005172
MousePhenoabnormal platelet dense granule morphology

HPS5 LYST

1.37e-0425102MP:0004721
MousePhenoabnormal ear pigmentation

HPS5 LYST

1.48e-0426102MP:0000015
MousePhenoabnormal outer ear skin morphology

HPS5 LYST

1.60e-0427102MP:0030530
MousePhenoabnormal foot pigmentation

HPS5 LYST

1.72e-0428102MP:0009379
MousePhenoabnormal iris pigmentation

HPS5 LYST

2.12e-0431102MP:0005102
MousePhenoabnormal head skin morphology

HPS5 LYST

2.55e-0434102MP:0030529
MousePhenoabnormal extracutaneous pigmentation

HPS5 LYST SLC26A4

2.60e-04186103MP:0009389
MousePhenoabnormal foam cell morphology

RAD51AP2 PLA2G15 PLD6 SLC26A4 CCND2

2.76e-04954105MP:0009840
MousePhenoabnormal tail pigmentation

HPS5 LYST

3.37e-0439102MP:0005174
MousePhenodecreased serotonin level

HPS5 LYST

3.54e-0440102MP:0010070
MousePhenoabnormal vestibular system physiology

LYST SLC26A4

5.32e-0449102MP:0004742
MousePhenoabnormal optic choroid morphology

HPS5 LYST

5.99e-0452102MP:0005098
MousePhenohypopigmentation

HPS5 LYST

6.22e-0453102MP:0005408
MousePhenoabnormal sperm number

RAD51AP2 PLD6 SLC26A4 CCND2

6.66e-04624104MP:0002673
MousePhenodecreased male germ cell number

RAD51AP2 PLD6 SLC26A4 CCND2

7.33e-04640104MP:0004901
MousePhenoincreased susceptibility to Herpesvirales infection

HPS5 LYST

8.24e-0461102MP:0020916
MousePhenoabnormal melanocyte morphology

LYST SLC26A4

8.24e-0461102MP:0002877
MousePhenodiluted coat color

HPS5 LYST

9.07e-0464102MP:0000371
MousePhenodecreased germ cell number

RAD51AP2 PLD6 SLC26A4 CCND2

9.57e-04687104MP:0002209
MousePhenoabnormal serotonin level

HPS5 LYST

1.18e-0373102MP:0005322
MousePhenoimpaired swimming

LYST SLC26A4

1.41e-0380102MP:0001522
MousePhenoabnormal susceptibility to Herpesvirales infection

HPS5 LYST

1.52e-0383102MP:0020915
MousePhenoabnormal gametes

RAD51AP2 PLD6 SLC26A4 CCND2

1.58e-03785104MP:0001124
MousePhenoabnormal cerebellar granule layer morphology

LYST CCND2

1.59e-0385102MP:0000886
MousePhenoabnormal skin pigmentation

HPS5 LYST

1.67e-0387102MP:0002095
MousePhenoincreased bleeding time

HPS5 LYST

1.82e-0391102MP:0005606
MousePhenosmall testis

RAD51AP2 PLD6 SLC26A4 CCND2

1.88e-03823104MP:0001147
MousePhenooligozoospermia

RAD51AP2 SLC26A4 CCND2

2.14e-03384103MP:0002687
MousePhenoabnormal male germ cell morphology

RAD51AP2 PLD6 SLC26A4 CCND2

2.20e-03859104MP:0006362
MousePhenosmall gonad

RAD51AP2 PLD6 SLC26A4 CCND2

2.46e-03885104MP:0001116
MousePhenoabnormal primary sex determination

RAD51AP2 PLD6 SLC26A4 CCND2

2.63e-03901104MP:0002211
MousePhenoabnormal spermatogenesis

RAD51AP2 PLD6 SLC26A4 CCND2

2.73e-03910104MP:0001156
MousePhenoabnormal testis size

RAD51AP2 PLD6 SLC26A4 CCND2

2.78e-03915104MP:0004849
MousePhenoabnormal outer ear morphology

HPS5 LYST

3.09e-03119102MP:0002177
MousePhenoabnormal sex determination

RAD51AP2 PLD6 SLC26A4 CCND2

3.13e-03945104MP:0002210
MousePhenoabnormal germ cell morphology

RAD51AP2 PLD6 SLC26A4 CCND2

3.15e-03946104MP:0002208
MousePhenoabnormal urine homeostasis

HPS5 LYST SLC26A4

3.71e-03466103MP:0009643
MousePhenoabnormal ear morphology

HPS5 LYST SLC26A4

3.80e-03470103MP:0002102
MousePhenoabnormal retina pigment epithelium morphology

HPS5 LYST

3.96e-03135102MP:0005201
MousePhenoarrest of male meiosis

RAD51AP2 PLD6

4.25e-03140102MP:0008261
MousePhenoabnormal retina layer morphology

HPS5 SLC6A6 LYST

4.63e-03504103MP:0003727
MousePhenoabnormal gametogenesis

RAD51AP2 PLD6 SLC26A4 CCND2

4.93e-031070104MP:0001929
DomainCadherin_tail

PCDHA13 PCDHA1

4.50e-0437162PF15974
DomainCadherin_CBD

PCDHA13 PCDHA1

4.50e-0437162IPR031904
DomainCadherin_N

PCDHA13 PCDHA1

1.39e-0365162IPR013164
DomainCadherin_2

PCDHA13 PCDHA1

1.39e-0365162PF08266
DomainCadherin_CS

PCDHA13 PCDHA1

3.84e-03109162IPR020894
DomainCadherin

PCDHA13 PCDHA1

4.12e-03113162PF00028
DomainCADHERIN_1

PCDHA13 PCDHA1

4.12e-03113162PS00232
Domain-

PCDHA13 PCDHA1

4.19e-031141622.60.40.60
DomainCADHERIN_2

PCDHA13 PCDHA1

4.19e-03114162PS50268
DomainCA

PCDHA13 PCDHA1

4.26e-03115162SM00112
DomainCadherin-like

PCDHA13 PCDHA1

4.34e-03116162IPR015919
DomainCadherin

PCDHA13 PCDHA1

4.48e-03118162IPR002126
DomainAAA+_ATPase

DNAH7 AK9

6.60e-03144162IPR003593
DomainAAA

DNAH7 AK9

6.60e-03144162SM00382
DomainWD40_repeat_dom

HPS5 LYST

2.61e-02297162IPR017986
Domain-

HPS5 LYST

3.23e-023331622.130.10.10
DomainWD40/YVTN_repeat-like_dom

HPS5 LYST

3.26e-02335162IPR015943
PathwayREACTOME_TRANSPORT_OF_INORGANIC_CATIONS_ANIONS_AND_AMINO_ACIDS_OLIGOPEPTIDES

SLC6A6 SLC26A4

2.02e-0310892M823
PathwayREACTOME_TRANSPORT_OF_INORGANIC_CATIONS_ANIONS_AND_AMINO_ACIDS_OLIGOPEPTIDES

SLC6A6 SLC26A4

2.06e-0310992MM15074
PathwayREACTOME_GLYCEROPHOSPHOLIPID_BIOSYNTHESIS

PLA2G15 PLD6

2.49e-0312092MM14585
PathwayREACTOME_GLYCEROPHOSPHOLIPID_BIOSYNTHESIS

PLA2G15 PLD6

2.82e-0312892M706
PathwayREACTOME_PHOSPHOLIPID_METABOLISM

PLA2G15 PLD6

6.49e-0319692MM14591
PathwayREACTOME_PHOSPHOLIPID_METABOLISM

PLA2G15 PLD6

7.49e-0321192M649
PathwayREACTOME_SLC_MEDIATED_TRANSMEMBRANE_TRANSPORT

SLC6A6 SLC26A4

9.45e-0323892MM15076
PathwayREACTOME_SLC_MEDIATED_TRANSMEMBRANE_TRANSPORT

SLC6A6 SLC26A4

1.03e-0224992M5988
Pubmed

Analysis of atherosclerosis susceptibility in mice with genetic defects in platelet function.

HPS5 LYST

1.98e-0651622369371
Pubmed

Monoallelic yet combinatorial expression of variable exons of the protocadherin-alpha gene cluster in single neurons.

PCDHA13 PCDHA1

2.08e-051516215640798
Pubmed

Platelet storage pool deficiency in mouse pigment mutations associated with seven distinct genetic loci.

HPS5 LYST

2.08e-05151626696991
Pubmed

Alpha protocadherins and Pyk2 kinase regulate cortical neuron migration and cytoskeletal dynamics via Rac1 GTPase and WAVE complex in mice.

PCDHA13 PCDHA1

2.69e-051716229911975
Pubmed

Genomic organization of the family of CNR cadherin genes in mice and humans.

PCDHA13 PCDHA1

3.02e-051816210662547
Pubmed

CNR/Pcdhalpha family in subplate neurons, and developing cortical connectivity.

PCDHA13 PCDHA1

3.02e-051816215570159
Pubmed

Developmental epigenetic modification regulates stochastic expression of clustered protocadherin genes, generating single neuron diversity.

PCDHA13 PCDHA1

5.44e-052416224698270
Pubmed

Interaction with protocadherin-gamma regulates the cell surface expression of protocadherin-alpha.

PCDHA13 PCDHA1

7.45e-052816215347688
Pubmed

Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.

RAD51AP2 PCDHA13 PCDHA1

8.93e-0519316322589738
Pubmed

Absence of S100A4 in the mouse lens induces an aberrant retina-specific differentiation program and cataract.

SLC6A6 SLC26A4

1.10e-043416233500475
Pubmed

Clustered gamma-protocadherins regulate cortical interneuron programmed cell death.

PCDHA13 PCDHA1

3.12e-045716232633719
Pubmed

CTCF Governs the Identity and Migration of MGE-Derived Cortical Interneurons.

PCDHA13 PCDHA1

3.23e-045816230377227
Pubmed

Comparative DNA sequence analysis of mouse and human protocadherin gene clusters.

PCDHA13 PCDHA1

4.44e-046816211230163
Cytoband5q31

PCDHA13 PCDHA1

7.29e-041151625q31
CytobandEnsembl 112 genes in cytogenetic band chr1q42

SLC35F3 LYST

3.11e-03240162chr1q42
CytobandEnsembl 112 genes in cytogenetic band chr5q31

PCDHA13 PCDHA1

4.75e-03298162chr5q31
GeneFamilyPhospholipases

PLA2G15 PLD6

4.71e-0442142467
GeneFamilyClustered protocadherins

PCDHA13 PCDHA1

1.09e-036414220
GeneFamilySolute carriers

SLC35F3 SLC6A6 SLC26A4

3.15e-03395143752
ToppCellControl-Endothelial-Endothelial-Vein|Control / V2 postpublication: Rhesus Genome Updated; Treatment groups by lineage, cell_type_level1, cell_type_level2

FCN3 SLC6A6 LYST

3.74e-0518616392092f11ecce22c14f244e42c499af0822977e6f
ToppCelldroplet-Lung-1m-Hematologic-myeloid-alveolar_macrophage-alveolar_macrophage|1m / method, tissue, age, lineage, sublineage, cell ontologies, cell type and subtype

SLC6A6 PLA2G15 CCND2

3.92e-05189163b2542b6fcf7bc10d29158d42b03182a939ff135a
ToppCellrenal_cortex_nuclei-Renal_AKI_(acute_kidney_injury)-Epithelial-Intermediate_tubule_epithelial_cell-kidney_loop_of_Henle_thin_descending_limb_epithelial_cell-Descending_Thin_Limb_Cell_Type_2|Renal_AKI_(acute_kidney_injury) / Celltypes from Cells and Nuclei per compartment and clinical group

SLC35F3 SLC6A6 DNAH7

3.92e-05189163bd91bdfe35294e60d980259b70fe9e60dca2743f
ToppCelldroplet-Lung-1m-Hematologic-myeloid-alveolar_macrophage|1m / method, tissue, age, lineage, sublineage, cell ontologies, cell type and subtype

SLC6A6 PLA2G15 CCND2

3.99e-05190163da58227565ad6a690828dd8554dd3670222f8582
ToppCellPND10|World / Age_group by Lineage, Lineage_subclass, Cell_type, subtypes-by-prolif

SLC6A6 SLC26A4 CCND2

3.99e-05190163d67e2814047c8df2ae4b7bc8be9539f5df6ecef2
Diseaseplatelet storage pool deficiency (implicated_via_orthology)

HPS5 LYST

2.52e-0515152DOID:2223 (implicated_via_orthology)
Disease1,5 anhydroglucitol measurement

PCDHA13 PCDHA1

9.72e-0529152EFO_0008009
Diseasevisceral adipose tissue measurement, body mass index

PCDHA13 PCDHA1

8.80e-0487152EFO_0004340, EFO_0004765
Diseaseunipolar depression

DNAH7 AK9 PCDHA1 CCND2

2.64e-031206154EFO_0003761
DiseaseMyocardial Ischemia

SLC6A6 CCND2

3.53e-03176152C0151744
Diseaseneutrophil count, basophil count

PCDHA13 PCDHA1

5.64e-03224152EFO_0004833, EFO_0005090
DiseaseDrugs used in diabetes use measurement

DNAH7 CCND2

7.25e-03255152EFO_0009924

Protein segments in the cluster

PeptideGeneStartEntry
LWKVWTELLDVLGLD

BRI3BP

91

Q8WY22
TEEKWNWLLLLEIDL

RAD51AP2

426

Q09MP3
WLNLELLLPVIIDCW

PLA2G15

76

Q8NCC3
LLEWELVVLGKLKWN

CCND2

136

P30279
MDLLWILPSLWLLLL

FCN3

1

O75636
WIPETVEEWKLLLHL

HPS5

1021

Q9UPZ3
ARDLLLWLLLLAAWE

PCDHA1

11

Q9Y5I3
PRQLLLWLLILAAWE

PCDHA13

11

Q9Y5I0
WEGKLLLLQEILDEW

DNAH7

966

Q8WXX0
VKLLEELLLDWKIWS

LYST

1911

Q99698
LALTLEALPWVLRWL

PLD6

16

Q8N2A8
EILEVILSEWWLKEP

AK9

1101

Q5TCS8
LKWDLALCLLLVWLV

SLC6A6

216

P31641
LLLLPEEWDVWLIKL

SLC35F3

371

Q8IY50
ILEWLPKYRVKEWLL

SLC26A4

71

O43511
LELISQLKWVELPWL

ZNF483

216

Q8TF39
QLKWVELPWLLEEVS

ZNF483

221

Q8TF39