WIPI1 (WD repeat domain, phosphoinositide interacting 1) - Rat Genome Database

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Gene: WIPI1 (WD repeat domain, phosphoinositide interacting 1) Homo sapiens
Analyze
Symbol: WIPI1
Name: WD repeat domain, phosphoinositide interacting 1
RGD ID: 1605986
HGNC Page HGNC:25471
Description: Enables several functions, including nuclear receptor binding activity; phosphatidylinositol phosphate binding activity; and protein-macromolecule adaptor activity. Involved in several processes, including autophagosome assembly; positive regulation of autophagosome assembly; and vesicle targeting, trans-Golgi to endosome. Located in bounding membrane of organelle; phagophore assembly site membrane; and trans-Golgi network.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: ATG18; atg18 protein homolog; ATG18A; FLJ10055; WD repeat domain phosphoinositide-interacting protein 1; WD40 repeat protein interacting with phosphoinositides of 49 kDa; WD40 repeat protein Interacting with phosphoInositides of 49kDa; WIPI 49 kDa; WIPI-1 alpha; WIPI49
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381768,421,281 - 68,457,496 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1768,420,948 - 68,457,513 (-)EnsemblGRCh38hg38GRCh38
GRCh371766,417,422 - 66,453,637 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361763,929,017 - 63,965,248 (-)NCBINCBI36Build 36hg18NCBI36
Celera1762,988,989 - 63,025,394 (-)NCBICelera
Cytogenetic Map17q24.2NCBI
HuRef1761,803,259 - 61,839,657 (-)NCBIHuRef
CHM1_11766,482,061 - 66,518,186 (-)NCBICHM1_1
T2T-CHM13v2.01769,297,798 - 69,334,178 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-alpha-phellandrene  (EXP)
1,2-dichloroethane  (ISO)
1-[(4-chlorophenyl)-phenylmethyl]-4-methylpiperazine  (EXP)
1-naphthyl isothiocyanate  (EXP)
17beta-estradiol  (EXP)
17beta-hydroxy-5alpha-androstan-3-one  (EXP)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4,6-tribromophenol  (EXP)
3,3',5,5'-tetrabromobisphenol A  (EXP)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
acrylamide  (ISO)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP)
alpha-phellandrene  (EXP)
amiodarone  (EXP)
amitriptyline  (EXP)
atrazine  (EXP)
benzo[a]pyrene  (ISO)
benzo[a]pyrene diol epoxide I  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
buspirone  (ISO)
cadmium dichloride  (ISO)
calcitriol  (EXP)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chlorpromazine  (EXP)
choline  (ISO)
cisplatin  (EXP)
clofibrate  (ISO)
clomipramine  (EXP)
clozapine  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
coumestrol  (EXP)
cyclosporin A  (EXP)
decabromodiphenyl ether  (EXP)
deoxynivalenol  (EXP)
diclofenac  (ISO)
diethylstilbestrol  (ISO)
doxorubicin  (ISO)
endosulfan  (ISO)
Enterolactone  (EXP)
erythromycin A  (EXP)
ethanol  (EXP)
etoposide  (EXP)
fenthion  (ISO)
flecainide  (EXP)
fluoxetine  (EXP)
flutamide  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
gentamycin  (ISO)
haloperidol  (EXP)
imipramine  (EXP)
iron atom  (EXP)
iron(0)  (EXP)
ketoconazole  (EXP)
L-methionine  (ISO)
lead diacetate  (ISO)
levofloxacin  (ISO)
manganese atom  (ISO)
manganese(0)  (ISO)
manganese(II) chloride  (ISO)
menadione  (EXP)
mercury atom  (ISO)
mercury(0)  (ISO)
methapyrilene  (ISO)
methylmercury chloride  (EXP)
mitomycin C  (EXP)
nickel sulfate  (EXP)
niclosamide  (EXP)
paracetamol  (EXP)
pentamidine  (EXP)
perfluorooctanoic acid  (EXP)
perhexiline  (EXP)
phenobarbital  (ISO)
pirinixic acid  (ISO)
procainamide  (EXP)
sertraline  (EXP)
silicon dioxide  (EXP)
sodium arsenate  (ISO)
sodium arsenite  (EXP,ISO)
sotalol  (EXP)
T-2 toxin  (EXP)
tamoxifen  (EXP)
temozolomide  (EXP)
tert-butyl hydroperoxide  (EXP)
testosterone  (EXP,ISO)
tetracycline  (EXP)
thapsigargin  (EXP,ISO)
thioridazine  (EXP)
Triptolide  (ISO)
troglitazone  (ISO)
trovafloxacin  (EXP)
tunicamycin  (EXP)
valproic acid  (EXP,ISO)
zimeldine  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:14702039   PMID:15020712   PMID:15489334   PMID:15602573   PMID:16169070   PMID:17618624   PMID:19936222   PMID:20505359   PMID:20562859   PMID:21317285   PMID:21564513  
PMID:21873635   PMID:24384561   PMID:24991767   PMID:25233424   PMID:25462558   PMID:26186194   PMID:28514442   PMID:28561066   PMID:28625976   PMID:29048433   PMID:30622661   PMID:31021818  
PMID:31271352   PMID:33499712   PMID:33562550   PMID:33636294   PMID:33685363   PMID:33961781   PMID:34079125   PMID:34689010   PMID:35466426   PMID:37620393   PMID:37774976  


Genomics

Comparative Map Data
WIPI1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381768,421,281 - 68,457,496 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1768,420,948 - 68,457,513 (-)EnsemblGRCh38hg38GRCh38
GRCh371766,417,422 - 66,453,637 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361763,929,017 - 63,965,248 (-)NCBINCBI36Build 36hg18NCBI36
Celera1762,988,989 - 63,025,394 (-)NCBICelera
Cytogenetic Map17q24.2NCBI
HuRef1761,803,259 - 61,839,657 (-)NCBIHuRef
CHM1_11766,482,061 - 66,518,186 (-)NCBICHM1_1
T2T-CHM13v2.01769,297,798 - 69,334,178 (-)NCBIT2T-CHM13v2.0
Wipi1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3911109,464,347 - 109,502,215 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl11109,464,157 - 109,502,793 (-)EnsemblGRCm39 Ensembl
GRCm3811109,573,521 - 109,611,389 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl11109,573,331 - 109,611,967 (-)EnsemblGRCm38mm10GRCm38
MGSCv3711109,434,835 - 109,472,703 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3611109,389,611 - 109,427,479 (-)NCBIMGSCv36mm8
Celera11121,311,520 - 121,349,584 (-)NCBICelera
Cytogenetic Map11E1NCBI
cM Map1172.18NCBI
Wipi1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81095,042,451 - 95,079,679 (-)NCBIGRCr8
mRatBN7.21094,542,946 - 94,580,174 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1094,542,946 - 94,579,846 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1099,600,580 - 99,637,322 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01099,063,654 - 99,100,399 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01094,473,833 - 94,510,401 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01097,859,730 - 97,896,949 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1097,859,727 - 97,896,525 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01097,578,114 - 97,614,772 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41098,722,266 - 98,753,713 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11098,736,531 - 98,768,083 (+)NCBI
Celera1093,202,993 - 93,239,541 (-)NCBICelera
Cytogenetic Map10q32.1NCBI
Wipi1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554784,309,880 - 4,343,934 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554784,309,975 - 4,341,107 (+)NCBIChiLan1.0ChiLan1.0
WIPI1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21984,449,415 - 84,486,108 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11789,270,536 - 89,307,191 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01762,357,952 - 62,394,620 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11767,748,201 - 67,784,313 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1767,748,201 - 67,784,389 (-)Ensemblpanpan1.1panPan2
WIPI1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1915,115,098 - 15,147,893 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl915,115,315 - 15,149,147 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha916,007,598 - 16,040,393 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0916,777,725 - 16,810,214 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl916,777,726 - 16,810,216 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1915,722,376 - 15,755,139 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0911,778,126 - 11,810,866 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0911,778,427 - 11,811,230 (+)NCBIUU_Cfam_GSD_1.0
Wipi1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560211,382,450 - 11,411,762 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365417,783,322 - 7,812,054 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365417,782,836 - 7,812,142 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
WIPI1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1211,715,318 - 11,752,021 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11211,715,332 - 11,752,009 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21212,181,684 - 12,218,356 (+)NCBISscrofa10.2Sscrofa10.2susScr3
WIPI1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11653,096,027 - 53,133,828 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1653,096,023 - 53,135,010 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607724,024,610 - 24,063,523 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Wipi1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248703,486,375 - 3,518,193 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248703,487,814 - 3,518,206 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in WIPI1
35 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 17q23.2-25.3(chr17:36449220-83086677)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|See cases [RCV000052483] Chr17:36449220..83086677 [GRCh38]
Chr17:58617905..81044553 [GRCh37]
Chr17:55972687..78637842 [NCBI36]
Chr17:17q23.2-25.3
pathogenic
GRCh38/hg38 17q24.2-24.3(chr17:67833866-70085854)x1 copy number loss See cases [RCV000053452] Chr17:67833866..70085854 [GRCh38]
Chr17:65829982..68081995 [GRCh37]
Chr17:63260444..65593590 [NCBI36]
Chr17:17q24.2-24.3
pathogenic
GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3 copy number gain See cases [RCV000137437] Chr17:36449220..75053130 [GRCh38]
Chr17:57595736..73049225 [GRCh37]
Chr17:54950518..70560820 [NCBI36]
Chr17:17q23.1-25.1
pathogenic
GRCh38/hg38 17q24.2(chr17:67584224-68639875)x1 copy number loss See cases [RCV000138379] Chr17:67584224..68639875 [GRCh38]
Chr17:65580340..66636016 [GRCh37]
Chr17:63010802..64147611 [NCBI36]
Chr17:17q24.2
pathogenic
GRCh38/hg38 17q24.2-24.3(chr17:68420514-71351235)x1 copy number loss See cases [RCV000143113] Chr17:68420514..71351235 [GRCh38]
Chr17:66416655..69347376 [GRCh37]
Chr17:63928250..66858971 [NCBI36]
Chr17:17q24.2-24.3
pathogenic
GRCh37/hg19 17q24.2-24.3(chr17:65343022-69344022)x3 copy number gain See cases [RCV000446484] Chr17:65343022..69344022 [GRCh37]
Chr17:17q24.2-24.3
uncertain significance
GRCh37/hg19 17q24.2-25.3(chr17:64241326-81041938)x3 copy number gain See cases [RCV000447577] Chr17:64241326..81041938 [GRCh37]
Chr17:17q24.2-25.3
pathogenic
GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3 copy number gain See cases [RCV000447823] Chr17:42580684..81085615 [GRCh37]
Chr17:17q21.31-25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
NM_017983.7(WIPI1):c.1214C>T (p.Ala405Val) single nucleotide variant not specified [RCV004294691] Chr17:68426154 [GRCh38]
Chr17:66422295 [GRCh37]
Chr17:17q24.2
uncertain significance
NM_017983.7(WIPI1):c.473C>T (p.Ala158Val) single nucleotide variant not specified [RCV004293712] Chr17:68436437 [GRCh38]
Chr17:66432578 [GRCh37]
Chr17:17q24.2
uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3 copy number gain not provided [RCV000683952] Chr17:63689671..81041938 [GRCh37]
Chr17:17q24.1-25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17q24.1-25.2(chr17:64159738-74891024)x3 copy number gain not provided [RCV000762750] Chr17:64159738..74891024 [GRCh37]
Chr17:17q24.1-25.2
likely pathogenic
NM_017983.7(WIPI1):c.1192+4G>A single nucleotide variant not provided [RCV000968749] Chr17:68427131 [GRCh38]
Chr17:66423272 [GRCh37]
Chr17:17q24.2
benign
GRCh37/hg19 17q23.1-24.2(chr17:57869604-67078443)x3 copy number gain not provided [RCV000845965] Chr17:57869604..67078443 [GRCh37]
Chr17:17q23.1-24.2
pathogenic
GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3 copy number gain not provided [RCV000849900] Chr17:62778720..81041938 [GRCh37]
Chr17:17q24.1-25.3
pathogenic
NM_017983.7(WIPI1):c.1184C>T (p.Thr395Met) single nucleotide variant not specified [RCV004288854] Chr17:68427143 [GRCh38]
Chr17:66423284 [GRCh37]
Chr17:17q24.2
uncertain significance
NM_017983.7(WIPI1):c.950T>A (p.Ile317Asn) single nucleotide variant not specified [RCV004318742] Chr17:68430011 [GRCh38]
Chr17:66426152 [GRCh37]
Chr17:17q24.2
uncertain significance
NM_017983.7(WIPI1):c.983G>A (p.Arg328Gln) single nucleotide variant Neural tube defect [RCV000853418] Chr17:68428919 [GRCh38]
Chr17:66425060 [GRCh37]
Chr17:17q24.2
affects
NM_017983.7(WIPI1):c.923G>A (p.Arg308His) single nucleotide variant not provided [RCV000889145] Chr17:68430038 [GRCh38]
Chr17:66426179 [GRCh37]
Chr17:17q24.2
benign
NM_017983.7(WIPI1):c.237A>G (p.Lys79=) single nucleotide variant not provided [RCV000974136] Chr17:68450824 [GRCh38]
Chr17:66446965 [GRCh37]
Chr17:17q24.2
benign
NC_000017.10:g.(?_66303635)_(66596807_?)dup duplication not provided [RCV001918933] Chr17:66303635..66596807 [GRCh37]
Chr17:17q24.2
uncertain significance
NM_017983.7(WIPI1):c.616G>A (p.Glu206Lys) single nucleotide variant not specified [RCV004137814] Chr17:68435625 [GRCh38]
Chr17:66431766 [GRCh37]
Chr17:17q24.2
uncertain significance
NM_017983.7(WIPI1):c.793A>G (p.Thr265Ala) single nucleotide variant not specified [RCV004152019] Chr17:68433475 [GRCh38]
Chr17:66429616 [GRCh37]
Chr17:17q24.2
uncertain significance
NM_017983.7(WIPI1):c.922C>T (p.Arg308Cys) single nucleotide variant not specified [RCV004084790] Chr17:68430039 [GRCh38]
Chr17:66426180 [GRCh37]
Chr17:17q24.2
uncertain significance
NM_017983.7(WIPI1):c.760G>A (p.Glu254Lys) single nucleotide variant not specified [RCV004225736] Chr17:68433508 [GRCh38]
Chr17:66429649 [GRCh37]
Chr17:17q24.2
uncertain significance
NM_017983.7(WIPI1):c.1046G>A (p.Gly349Glu) single nucleotide variant not specified [RCV004153886] Chr17:68428856 [GRCh38]
Chr17:66424997 [GRCh37]
Chr17:17q24.2
uncertain significance
NM_017983.7(WIPI1):c.917C>T (p.Thr306Ile) single nucleotide variant not specified [RCV004110656] Chr17:68430044 [GRCh38]
Chr17:66426185 [GRCh37]
Chr17:17q24.2
uncertain significance
NM_017983.7(WIPI1):c.832T>A (p.Tyr278Asn) single nucleotide variant not specified [RCV004167405] Chr17:68430129 [GRCh38]
Chr17:66426270 [GRCh37]
Chr17:17q24.2
uncertain significance
NM_017983.7(WIPI1):c.649C>G (p.Pro217Ala) single nucleotide variant not specified [RCV004107037] Chr17:68434599 [GRCh38]
Chr17:66430740 [GRCh37]
Chr17:17q24.2
uncertain significance
NM_017983.7(WIPI1):c.1069C>T (p.His357Tyr) single nucleotide variant not specified [RCV004171621] Chr17:68428833 [GRCh38]
Chr17:66424974 [GRCh37]
Chr17:17q24.2
uncertain significance
NM_017983.7(WIPI1):c.847T>C (p.Phe283Leu) single nucleotide variant not specified [RCV004334338] Chr17:68430114 [GRCh38]
Chr17:66426255 [GRCh37]
Chr17:17q24.2
uncertain significance
NM_017983.7(WIPI1):c.1220G>A (p.Arg407Gln) single nucleotide variant not specified [RCV004361203] Chr17:68426148 [GRCh38]
Chr17:66422289 [GRCh37]
Chr17:17q24.2
uncertain significance
GRCh37/hg19 17q24.2-24.3(chr17:66271342-67205346)x3 copy number gain not specified [RCV003987225] Chr17:66271342..67205346 [GRCh37]
Chr17:17q24.2-24.3
uncertain significance
NM_017983.7(WIPI1):c.687G>A (p.Met229Ile) single nucleotide variant WIPI1-related condition [RCV003949197] Chr17:68434561 [GRCh38]
Chr17:66430702 [GRCh37]
Chr17:17q24.2
likely benign
NM_017983.7(WIPI1):c.1152C>T (p.Thr384=) single nucleotide variant WIPI1-related condition [RCV003947168] Chr17:68427175 [GRCh38]
Chr17:66423316 [GRCh37]
Chr17:17q24.2
likely benign
NM_017983.7(WIPI1):c.556G>A (p.Glu186Lys) single nucleotide variant not specified [RCV004482986] Chr17:68435685 [GRCh38]
Chr17:66431826 [GRCh37]
Chr17:17q24.2
uncertain significance
NM_017983.7(WIPI1):c.187G>A (p.Val63Met) single nucleotide variant not specified [RCV004482985] Chr17:68450874 [GRCh38]
Chr17:66447015 [GRCh37]
Chr17:17q24.2
uncertain significance
NM_017983.7(WIPI1):c.175G>T (p.Asp59Tyr) single nucleotide variant not specified [RCV004482984] Chr17:68450886 [GRCh38]
Chr17:66447027 [GRCh37]
Chr17:17q24.2
uncertain significance
NM_017983.7(WIPI1):c.154C>T (p.His52Tyr) single nucleotide variant not specified [RCV004482983] Chr17:68452919 [GRCh38]
Chr17:66449060 [GRCh37]
Chr17:17q24.2
uncertain significance
NM_017983.7(WIPI1):c.1322G>A (p.Gly441Asp) single nucleotide variant not specified [RCV004482982] Chr17:68421792 [GRCh38]
Chr17:66417933 [GRCh37]
Chr17:17q24.2
uncertain significance
NM_017983.7(WIPI1):c.1094C>G (p.Thr365Arg) single nucleotide variant not specified [RCV004482981] Chr17:68427233 [GRCh38]
Chr17:66423374 [GRCh37]
Chr17:17q24.2
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1973
Count of miRNA genes:822
Interacting mature miRNAs:980
Transcripts:ENST00000262139, ENST00000546360, ENST00000585393, ENST00000586815, ENST00000587731, ENST00000589316, ENST00000589459, ENST00000590402, ENST00000591494, ENST00000591744, ENST00000592645
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
STS-N51941  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371766,417,507 - 66,417,723UniSTSGRCh37
Build 361763,929,102 - 63,929,318RGDNCBI36
Celera1762,989,074 - 62,989,290RGD
Cytogenetic Map17q24.2UniSTS
HuRef1761,803,344 - 61,803,560UniSTS
GeneMap99-GB4 RH Map17432.57UniSTS
RH80612  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371766,417,473 - 66,417,720UniSTSGRCh37
Build 361763,929,068 - 63,929,315RGDNCBI36
Celera1762,989,040 - 62,989,287RGD
Cytogenetic Map17q24.2UniSTS
HuRef1761,803,310 - 61,803,557UniSTS
GeneMap99-GB4 RH Map17429.53UniSTS
RH93843  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371766,425,305 - 66,425,436UniSTSGRCh37
Build 361763,936,900 - 63,937,031RGDNCBI36
Celera1762,996,868 - 62,996,999RGD
Cytogenetic Map17q24.2UniSTS
HuRef1761,811,138 - 61,811,269UniSTS
GeneMap99-GB4 RH Map17432.57UniSTS
SHGC-78791  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371766,434,182 - 66,434,475UniSTSGRCh37
Build 361763,945,777 - 63,946,070RGDNCBI36
Celera1763,005,921 - 63,006,222RGD
Cytogenetic Map17q24.2UniSTS
HuRef1761,820,193 - 61,820,494UniSTS
TNG Radiation Hybrid Map1730234.0UniSTS
RH122789  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371766,434,520 - 66,434,738UniSTSGRCh37
Build 361763,946,115 - 63,946,333RGDNCBI36
Celera1763,006,267 - 63,006,485RGD
Cytogenetic Map17q24.2UniSTS
HuRef1761,820,539 - 61,820,757UniSTS
TNG Radiation Hybrid Map1730234.0UniSTS
SHGC-146131  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371766,449,089 - 66,449,393UniSTSGRCh37
Build 361763,960,684 - 63,960,988RGDNCBI36
Celera1763,020,833 - 63,021,137RGD
Cytogenetic Map17q24.2UniSTS
HuRef1761,835,105 - 61,835,409UniSTS
TNG Radiation Hybrid Map1730230.0UniSTS
SHGC-146295  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371766,441,988 - 66,442,283UniSTSGRCh37
Build 361763,953,583 - 63,953,878RGDNCBI36
Celera1763,013,732 - 63,014,027RGD
Cytogenetic Map17q24.2UniSTS
HuRef1761,828,004 - 61,828,299UniSTS
TNG Radiation Hybrid Map1730234.0UniSTS
SHGC-155164  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371766,424,675 - 66,424,975UniSTSGRCh37
Build 361763,936,270 - 63,936,570RGDNCBI36
Celera1762,996,238 - 62,996,538RGD
Cytogenetic Map17q24.2UniSTS
HuRef1761,810,508 - 61,810,808UniSTS
TNG Radiation Hybrid Map1730238.0UniSTS
RH16580  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371766,421,717 - 66,421,836UniSTSGRCh37
Build 361763,933,312 - 63,933,431RGDNCBI36
Celera1762,993,280 - 62,993,399RGD
Cytogenetic Map17q24.2UniSTS
HuRef1761,807,550 - 61,807,669UniSTS
GeneMap99-GB4 RH Map17432.57UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2348 2851 1446 366 1745 206 4315 2063 1719 367 1364 1542 170 1 1201 2786 6 2
Low 91 140 280 258 205 259 41 130 2013 52 95 71 4 3 2
Below cutoff 1 1 4 2 1

Sequence


RefSeq Acc Id: ENST00000262139   ⟹   ENSP00000262139
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1768,421,281 - 68,457,496 (-)Ensembl
RefSeq Acc Id: ENST00000546360   ⟹   ENSP00000437345
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1768,421,514 - 68,457,479 (-)Ensembl
RefSeq Acc Id: ENST00000585393   ⟹   ENSP00000465557
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1768,421,486 - 68,427,175 (-)Ensembl
RefSeq Acc Id: ENST00000586815
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1768,433,509 - 68,457,513 (-)Ensembl
RefSeq Acc Id: ENST00000587731
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1768,428,245 - 68,430,132 (-)Ensembl
RefSeq Acc Id: ENST00000589316   ⟹   ENSP00000465470
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1768,421,310 - 68,457,499 (-)Ensembl
RefSeq Acc Id: ENST00000589459
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1768,421,309 - 68,457,499 (-)Ensembl
RefSeq Acc Id: ENST00000590402
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1768,425,926 - 68,427,569 (-)Ensembl
RefSeq Acc Id: ENST00000591494
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1768,428,877 - 68,448,440 (-)Ensembl
RefSeq Acc Id: ENST00000591744   ⟹   ENSP00000466270
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1768,425,930 - 68,433,571 (-)Ensembl
RefSeq Acc Id: ENST00000592645   ⟹   ENSP00000465695
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1768,420,948 - 68,427,232 (-)Ensembl
RefSeq Acc Id: NM_001320772   ⟹   NP_001307701
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381768,421,281 - 68,457,496 (-)NCBI
CHM1_11766,482,061 - 66,518,186 (-)NCBI
T2T-CHM13v2.01769,297,798 - 69,334,178 (-)NCBI
Sequence:
RefSeq Acc Id: NM_017983   ⟹   NP_060453
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381768,421,281 - 68,457,496 (-)NCBI
GRCh371766,417,422 - 66,453,653 (-)RGD
Build 361763,929,017 - 63,965,248 (-)NCBI Archive
Celera1762,988,989 - 63,025,394 (-)RGD
HuRef1761,803,259 - 61,839,657 (-)ENTREZGENE
CHM1_11766,482,061 - 66,518,186 (-)NCBI
T2T-CHM13v2.01769,297,798 - 69,334,178 (-)NCBI
Sequence:
RefSeq Acc Id: NR_135470
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381768,421,281 - 68,457,496 (-)NCBI
CHM1_11766,482,061 - 66,518,186 (-)NCBI
T2T-CHM13v2.01769,297,798 - 69,334,178 (-)NCBI
Sequence:
RefSeq Acc Id: NR_135471
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381768,421,281 - 68,457,496 (-)NCBI
CHM1_11766,482,061 - 66,518,186 (-)NCBI
T2T-CHM13v2.01769,297,798 - 69,334,178 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017024808   ⟹   XP_016880297
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381768,421,281 - 68,450,695 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054316594   ⟹   XP_054172569
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01769,297,798 - 69,327,389 (-)NCBI
RefSeq Acc Id: NP_060453   ⟸   NM_017983
- Peptide Label: isoform a
- UniProtKB: Q8IXM5 (UniProtKB/Swiss-Prot),   Q9NWF8 (UniProtKB/Swiss-Prot),   Q5MNZ9 (UniProtKB/Swiss-Prot),   B4DX63 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001307701   ⟸   NM_001320772
- Peptide Label: isoform b
- UniProtKB: B4DX63 (UniProtKB/TrEMBL),   G5EA37 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016880297   ⟸   XM_017024808
- Peptide Label: isoform X1
- UniProtKB: B4DX63 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000437345   ⟸   ENST00000546360
RefSeq Acc Id: ENSP00000465557   ⟸   ENST00000585393
RefSeq Acc Id: ENSP00000465470   ⟸   ENST00000589316
RefSeq Acc Id: ENSP00000262139   ⟸   ENST00000262139
RefSeq Acc Id: ENSP00000466270   ⟸   ENST00000591744
RefSeq Acc Id: ENSP00000465695   ⟸   ENST00000592645
RefSeq Acc Id: XP_054172569   ⟸   XM_054316594
- Peptide Label: isoform X1

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q5MNZ9-F1-model_v2 AlphaFold Q5MNZ9 1-446 view protein structure

Promoters
RGD ID:6811393
Promoter ID:HG_ACW:36065
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:WIPI1.HAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 361763,945,666 - 63,946,166 (-)MPROMDB
RGD ID:6794735
Promoter ID:HG_KWN:26940
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_017983,   UC002JHD.2,   UC002JHE.2
Position:
Human AssemblyChrPosition (strand)Source
Build 361763,965,086 - 63,965,762 (-)MPROMDB
RGD ID:7236123
Promoter ID:EPDNEW_H23807
Type:initiation region
Name:WIPI1_1
Description:WD repeat domain, phosphoinositide interacting 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381768,457,479 - 68,457,539EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:25471 AgrOrtholog
COSMIC WIPI1 COSMIC
Ensembl Genes ENSG00000070540 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000262139 ENTREZGENE
  ENST00000262139.10 UniProtKB/Swiss-Prot
  ENST00000546360 ENTREZGENE
  ENST00000546360.5 UniProtKB/TrEMBL
  ENST00000585393.1 UniProtKB/TrEMBL
  ENST00000589316.5 UniProtKB/TrEMBL
  ENST00000591744.1 UniProtKB/TrEMBL
  ENST00000592645.5 UniProtKB/TrEMBL
Gene3D-CATH 2.130.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000070540 GTEx
HGNC ID HGNC:25471 ENTREZGENE
Human Proteome Map WIPI1 Human Proteome Map
InterPro PROPPIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40/YVTN_repeat-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40_repeat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40_repeat_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:55062 UniProtKB/Swiss-Prot
NCBI Gene 55062 ENTREZGENE
OMIM 609224 OMIM
PANTHER PTHR11227:SF23 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD-REPEAT PROTEIN INTERACTING WITH PHOSPHOINOSIDES WIPI -RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam PROPPIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA142670575 PharmGKB
SMART WD40 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF50978 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B4DX63 ENTREZGENE, UniProtKB/TrEMBL
  G5EA37 ENTREZGENE, UniProtKB/TrEMBL
  K7EK57_HUMAN UniProtKB/TrEMBL
  K7EKC5_HUMAN UniProtKB/TrEMBL
  K7EKN0_HUMAN UniProtKB/TrEMBL
  K7ELY0_HUMAN UniProtKB/TrEMBL
  Q5MNZ9 ENTREZGENE
  Q8IXM5 ENTREZGENE
  Q9NWF8 ENTREZGENE
  WIPI1_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary Q8IXM5 UniProtKB/Swiss-Prot
  Q9NWF8 UniProtKB/Swiss-Prot