Cluster composition

Functions

CategoryNameIntersectionWithQueryPValueGenesInTermGenesInQueryGenesInTermInQueryID
GeneOntologyMolecularFunctionaldehyde dehydrogenase (NAD+) activity

ADH5 ALDH1L1

3.27e-0415362GO:0004029
GeneOntologyMolecularFunctionaldehyde dehydrogenase [NAD(P)+] activity

ADH5 ALDH1L1

4.23e-0417362GO:0004030
GeneOntologyMolecularFunctiondeath receptor binding

FEM1B RIPK1

9.24e-0425362GO:0005123
GeneOntologyMolecularFunctionoxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor

ADH5 ALDH1L1

3.38e-0348362GO:0016620
DomainAcylCo_DH/oxidase_C

FANCG ACOX1

4.26e-0416362IPR009075
DomainBTB-kelch_protein

KLHL41 KLHL40

3.10e-0343362IPR017096
Domain-

KLHL41 KLHL40

3.85e-03483622.120.10.80
DomainTPR

TTC7A FEM1B FANCG

3.90e-03165363PS50005
DomainTPR_REGION

TTC7A FEM1B FANCG

3.90e-03165363PS50293
DomainARM-type_fold

SCYL2 NBEAL1 DOCK9 RTTN

3.97e-03339364IPR016024
DomainKelch-typ_b-propeller

KLHL41 KLHL40

5.03e-0355362IPR015915
DomainKelch

KLHL41 KLHL40

5.58e-0358362SM00612
DomainGal_Oxase/kelch_b-propeller

KLHL41 KLHL40

5.77e-0359362IPR011043
DomainBACK

KLHL41 KLHL40

5.96e-0360362SM00875
DomainBACK

KLHL41 KLHL40

6.15e-0361362PF07707
DomainBACK

KLHL41 KLHL40

6.15e-0361362IPR011705
DomainKelch_1

KLHL41 KLHL40

8.03e-0370362PF01344
DomainKelch_1

KLHL41 KLHL40

8.03e-0370362IPR006652
DomainTPR-like_helical_dom

TTC7A TRAPPC10 FANCG

1.01e-02233363IPR011990
DomainCys-rich_flank_reg_C

LRRC4C ELFN1

1.30e-0290362IPR000483
DomainLRRCT

LRRC4C ELFN1

1.30e-0290362SM00082
Pubmed

Dysregulation of NRAP degradation by KLHL41 contributes to pathophysiology in nemaline myopathy.

KLHL41 KLHL40

1.56e-05636230986853
Pubmed

KLHL41 stabilizes skeletal muscle sarcomeres by nonproteolytic ubiquitination.

KLHL41 KLHL40

2.18e-05736228826497
Pubmed

Nemaline Myopathy – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY

KLHL41 KLHL40

4.66e-051036220301465
Pubmed

Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity.

SLC6A18 UNC93A

6.83e-051236228406212
Pubmed

A dual-activity topoisomerase complex regulates mRNA translation and turnover.

PIGW ORC1 SYNJ1 DOCK9 RTTN EIF2B3 SLC52A3

1.19e-04110536735748872
Pubmed

KLHL40 deficiency destabilizes thin filament proteins and promotes nemaline myopathy.

KLHL41 KLHL40

1.24e-041636224960163
Pubmed

BioID reveals an ATG9A interaction with ATG13-ATG101 in the degradation of p62/SQSTM1-ubiquitin clusters.

SCYL2 TRAPPC10 SYNJ1 NBEAL1

2.12e-0428536434369648
Pubmed

A systematic survey of loss-of-function variants in human protein-coding genes.

SLC6A18 UNC93A

2.38e-042236222344438
Pubmed

Identification of a large set of rare complete human knockouts.

SLC6A18 UNC93A

2.83e-042436225807282
Pubmed

Common homozygosity for predicted loss-of-function variants reveals both redundant and advantageous effects of dispensable human genes.

SLC6A18 UNC93A

5.07e-043236232487729
Pubmed

The mutational constraint spectrum quantified from variation in 141,456 humans.

SLC6A18 UNC93A

5.07e-043236232461654
Pubmed

Insulin-dependent interactions of proteins with GLUT4 revealed through stable isotope labeling by amino acids in cell culture (SILAC).

KLHL41 ACOX1

6.78e-043736216396496
Pubmed

Construction of long-transcript enriched cDNA libraries from submicrogram amounts of total RNAs by a universal PCR amplification method.

ADH5 FEM1B TRAPPC10 PIGW SYNJ1 DOCK9

7.91e-04108436611544199
Pubmed

Update on the Kelch-like (KLHL) gene family.

KLHL41 KLHL40

8.33e-044136223676014
Cytoband12q24.22

RNFT2 FBXO21

2.68e-051036212q24.22
GeneFamilyKelch like|BTB domain containing

KLHL41 KLHL40

2.20e-0342302617
CoexpressionGSE41867_NAIVE_VS_DAY8_LCMV_EFFECTOR_CD8_TCELL_UP

ORC1 MRPS16 RIPK1 HIBCH EIF2B3

7.65e-06200365M9467
Diseasepeptic ulcer disease, Peptic ulcer and gastro-oesophageal reflux disease (GORD) drug use measurement, gastroesophageal reflux disease

ELFN1 CCKBR

3.93e-0424362EFO_0003948, EFO_0009923, MONDO_0004247
Diseasecholestasis (biomarker_via_orthology)

ADH5 ALDH1L1

1.64e-0349362DOID:13580 (biomarker_via_orthology)
Diseaseurinary metabolite measurement

UNC93A HIBCH ACOX1

3.30e-03245363EFO_0005116

Protein segments in the cluster

PeptideGeneStartEntry
THYIMTILGCLFGMV

ELFN1

416

P0C7U0
TCKGKTILHYMGTST

ADH5

131

P11766
IFGTVICKAVSYLMG

CCKBR

121

P32239
ICKAVSYLMGVSVSV

CCKBR

126

P32239
LGGCLVEYMAKVHAL

BFSP2

111

Q13515
KVHTFLDYIMGGCQI

CPNE6

291

O95741
HSGMLVVAVCTKREY

NBEAL1

636

Q6ZS30
CQKPYVALIHGITMG

HIBCH

131

Q6NVY1
VCYSIGLIMKHKRYG

FBXO21

501

O94952
TCLMIAAYKGHTDVV

FEM1B

156

Q9UK73
HTYCGKGVCLLTGIM

KCNN3

516

Q9UGI6
AIKGVHSVRYLCMGA

FGF19

91

O95750
NVISHKGMIYCLGGK

KLHL41

441

O60662
TVLSHMDLVYVIGGK

KLHL40

456

Q2TBA0
GTVMTHGAYKVRIAV

LRRC4C

391

Q9HCJ2
VQVYTALGSCHRKMG

FANCG

246

O15287
MYGFMDVVCIGLIIH

MARCHF9

226

Q86YJ5
LVVIKSTMHYAGGLF

HFM1

626

A2PYH4
KLLDHTGGCMYISGV

ORC1

521

Q13415
YVHIMKEGLCSRVST

EIF2B3

301

Q9NR50
QVHSGKLVCGMVSYL

ACOX1

441

Q15067
KVLQGSITHCAEPYM

DOCK9

481

Q9BZ29
HKLGIAVCIGMASTF

RNFT2

181

Q96EX2
MVHLTTLLCKAYRGG

MRPS16

1

Q9Y3D3
LVLGALGETMCYHKS

RTTN

441

Q86VV8
FSGCLSYVKVMLGVV

SLC52A3

406

Q9NQ40
GDTMLHYLVLVTGCM

SYNJ1

71

O43426
HYLVLVTGCMSVGKI

SYNJ1

76

O43426
VGHGMICKAYAILLV

SMYD1

411

Q8NB12
AVLMGILGIYKCTFT

SCYL2

541

Q6P3W7
EIIEGMCYLHGKGVI

RIPK1

121

Q13546
IISTLGYVAIHMAGV

PIGW

306

Q7Z7B1
MCVIRGIETTGKVIY

SLC6A18

196

Q96N87
AGAVYTLALKTHVGM

ALDH1L1

511

O75891
VLYVLGAVTHVSCMI

UNC93A

321

Q86WB7
KVMGHSSLNCYIRVG

ZNF443

111

Q9Y2A4
CEAMLILGKLHYVEG

TTC7A

121

Q9ULT0
HVGGVLCVEITMYSQ

TRAPPC10

601

P48553