WDR1 (WD repeat domain 1) - Rat Genome Database

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Gene: WDR1 (WD repeat domain 1) Homo sapiens
Analyze
Symbol: WDR1
Name: WD repeat domain 1
RGD ID: 1314033
HGNC Page HGNC
Description: Predicted to enable actin filament binding activity. Involved in apical junction assembly; maintenance of epithelial cell apical/basal polarity; and regulation of actin filament depolymerization. Located in cell-cell junction and plasma membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: actin interacting protein 1; actin-interacting protein 1; AIP1; epididymis secretory protein Li 52; HEL-S-52; NORI-1; PFITS; WD repeat-containing protein 1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl410,074,339 - 10,116,949 (-)EnsemblGRCh38hg38GRCh38
GRCh38410,074,339 - 10,116,860 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37410,075,963 - 10,118,423 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3649,685,061 - 9,727,671 (-)NCBINCBI36hg18NCBI36
Build 3449,752,232 - 9,794,842NCBI
Celera410,558,329 - 10,600,940 (-)NCBI
Cytogenetic Map4p16.1NCBI
HuRef49,409,667 - 9,452,321 (-)NCBIHuRef
CHM1_1410,074,119 - 10,116,732 (-)NCBICHM1_1
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
References

References - curated
1. GOA_HUMAN data from the GO Consortium
2. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:1602151   PMID:6457647   PMID:8125298   PMID:10036186   PMID:10366597   PMID:12477932   PMID:12665801   PMID:14630798   PMID:15231747   PMID:15489334   PMID:15592455   PMID:15629458  
PMID:16009940   PMID:17293856   PMID:18179892   PMID:18494608   PMID:18624398   PMID:19056867   PMID:19165527   PMID:19818632   PMID:20631256   PMID:21319273   PMID:21688384   PMID:21873635  
PMID:21900206   PMID:21943158   PMID:22229870   PMID:22658674   PMID:22863883   PMID:22939629   PMID:23215816   PMID:23293323   PMID:23382044   PMID:23524849   PMID:23707566   PMID:23824909  
PMID:24516586   PMID:25011449   PMID:25499913   PMID:25659154   PMID:25792565   PMID:25796446   PMID:25921289   PMID:26344197   PMID:26438387   PMID:26465331   PMID:26496610   PMID:26499835  
PMID:26641092   PMID:27173277   PMID:27521604   PMID:27557945   PMID:27609643   PMID:27621311   PMID:27684187   PMID:27994071   PMID:28302793   PMID:28514442   PMID:28675297   PMID:28822708  
PMID:28986522   PMID:29056508   PMID:29117863   PMID:29180619   PMID:29440662   PMID:29467282   PMID:29568061   PMID:29751004   PMID:29955894   PMID:30021884   PMID:30097533   PMID:30158666  
PMID:30425250   PMID:30575818   PMID:30833792   PMID:30890647   PMID:31091453   PMID:31267705   PMID:31343991   PMID:31477895   PMID:31536960   PMID:31586073   PMID:31980649   PMID:32203420  
PMID:32268115   PMID:32416067   PMID:32513696   PMID:32529326   PMID:32601462   PMID:32723865   PMID:32780723   PMID:32807901   PMID:33226137   PMID:33916271   PMID:33961781  


Genomics

Comparative Map Data
WDR1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl410,074,339 - 10,116,949 (-)EnsemblGRCh38hg38GRCh38
GRCh38410,074,339 - 10,116,860 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37410,075,963 - 10,118,423 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3649,685,061 - 9,727,671 (-)NCBINCBI36hg18NCBI36
Build 3449,752,232 - 9,794,842NCBI
Celera410,558,329 - 10,600,940 (-)NCBI
Cytogenetic Map4p16.1NCBI
HuRef49,409,667 - 9,452,321 (-)NCBIHuRef
CHM1_1410,074,119 - 10,116,732 (-)NCBICHM1_1
Wdr1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39538,684,149 - 38,720,265 (-)NCBIGRCm39mm39
GRCm39 Ensembl538,684,156 - 38,720,564 (-)Ensembl
GRCm38538,526,806 - 38,562,922 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl538,526,813 - 38,563,221 (-)EnsemblGRCm38mm10GRCm38
MGSCv37538,918,052 - 38,952,834 (-)NCBIGRCm37mm9NCBIm37
MGSCv36538,815,062 - 38,849,844 (-)NCBImm8
Celera535,975,532 - 36,010,314 (-)NCBICelera
Cytogenetic Map5B3NCBI
cM Map520.63NCBI
Wdr1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21472,258,032 - 72,291,768 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl1472,257,956 - 72,291,766 (+)Ensembl
Rnor_6.01476,990,014 - 77,023,739 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1476,989,919 - 77,023,726 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01476,974,171 - 77,007,900 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41477,489,828 - 77,524,430 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11477,522,469 - 77,526,067 (+)NCBI
Celera1471,210,337 - 71,244,077 (+)NCBICelera
Cytogenetic Map14q21NCBI
Wdr1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555492,640,195 - 2,673,969 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555492,640,193 - 2,674,818 (+)NCBIChiLan1.0ChiLan1.0
WDR1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.149,805,164 - 9,848,032 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl49,805,164 - 9,848,032 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v044,487,054 - 4,516,732 (-)NCBIMhudiblu_PPA_v0panPan3
WDR1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1369,305,731 - 69,348,183 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl369,305,731 - 69,348,177 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha371,858,411 - 71,900,857 (+)NCBI
ROS_Cfam_1.0370,061,466 - 70,103,927 (+)NCBI
UMICH_Zoey_3.1369,335,607 - 69,378,040 (+)NCBI
UNSW_CanFamBas_1.0369,500,585 - 69,543,019 (+)NCBI
UU_Cfam_GSD_1.0369,883,812 - 69,926,328 (+)NCBI
Wdr1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440528562,941,450 - 62,980,758 (+)NCBI
SpeTri2.0NW_00493647716,643,142 - 16,682,450 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
WDR1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl86,413,347 - 6,452,346 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.186,413,338 - 6,452,383 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
WDR1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12739,929,749 - 39,973,892 (+)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl2739,929,787 - 39,974,012 (+)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366604786,717,645 - 86,762,071 (+)NCBIVero_WHO_p1.0
Wdr1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462475521,090,599 - 21,124,107 (+)NCBIHetGla_female_1.0hetGla2

Position Markers
SHGC-33408  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37410,113,703 - 10,113,852UniSTSGRCh37
Build 3649,722,801 - 9,722,950RGDNCBI36
Celera410,596,070 - 10,596,219RGD
Cytogenetic Map4p16.1UniSTS
HuRef49,447,444 - 9,447,593UniSTS
TNG Radiation Hybrid Map46441.0UniSTS
Stanford-G3 RH Map4754.0UniSTS
GeneMap99-GB4 RH Map461.16UniSTS
Whitehead-RH Map478.3UniSTS
NCBI RH Map4107.6UniSTS
GeneMap99-G3 RH Map4738.0UniSTS
D4S438E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37410,102,354 - 10,102,509UniSTSGRCh37
Build 3649,711,452 - 9,711,607RGDNCBI36
Celera410,584,723 - 10,584,878RGD
Cytogenetic Map4p16.1UniSTS
HuRef49,436,094 - 9,436,249UniSTS
STS-M78652  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37410,102,468 - 10,102,529UniSTSGRCh37
Build 3649,711,566 - 9,711,627RGDNCBI36
Celera410,584,837 - 10,584,898RGD
Cytogenetic Map4p16.1UniSTS
HuRef49,436,208 - 9,436,269UniSTS
GeneMap99-GB4 RH Map460.9UniSTS
SHGC-67675  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37410,076,937 - 10,077,062UniSTSGRCh37
Build 3649,686,035 - 9,686,160RGDNCBI36
Celera410,559,303 - 10,559,428RGD
Cytogenetic Map4p16.1UniSTS
HuRef49,410,641 - 9,410,766UniSTS
GeneMap99-GB4 RH Map461.22UniSTS
NCBI RH Map4107.4UniSTS
SHGC-67857  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37410,099,339 - 10,099,505UniSTSGRCh37
Build 3649,708,437 - 9,708,603RGDNCBI36
Celera410,581,708 - 10,581,874RGD
Cytogenetic Map4p16.1UniSTS
HuRef49,433,079 - 9,433,245UniSTS
GeneMap99-GB4 RH Map461.22UniSTS
G41952  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37410,107,418 - 10,107,551UniSTSGRCh37
Build 3649,716,516 - 9,716,649RGDNCBI36
Celera410,589,785 - 10,589,918RGD
Cytogenetic Map4p16.1UniSTS
HuRef49,441,159 - 9,441,292UniSTS
TNG Radiation Hybrid Map46431.0UniSTS
G65140  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37410,086,352 - 10,086,707UniSTSGRCh37
Build 3649,695,450 - 9,695,805RGDNCBI36
Celera410,568,719 - 10,569,074RGD
Cytogenetic Map4p16.1UniSTS
HuRef49,420,090 - 9,420,445UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5296
Count of miRNA genes:1077
Interacting mature miRNAs:1341
Transcripts:ENST00000264785, ENST00000382451, ENST00000382452, ENST00000499869, ENST00000502702, ENST00000502962, ENST00000504739, ENST00000505543, ENST00000505851, ENST00000506246, ENST00000508079, ENST00000508949, ENST00000509600, ENST00000509695, ENST00000510848, ENST00000514319, ENST00000515018, ENST00000515743
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.


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 2432 2919 1696 595 1940 437 4355 2137 3513 417 1448 1608 171 1204 2788 4
Low 7 70 30 29 11 28 1 58 217 2 12 4 3 1 2 2
Below cutoff 1 4 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_027876 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_017491 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017008880 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB010427 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB209746 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC005674 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC093664 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF020056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF020260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF274954 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK127665 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK222764 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK222897 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291614 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299602 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302209 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303132 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL050108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL110208 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000201 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC002489 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC030541 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG724171 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI831941 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX648190 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU794675 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF584054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L32559 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000264785
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl410,097,710 - 10,106,556 (-)Ensembl
RefSeq Acc Id: ENST00000382451   ⟹   ENSP00000371889
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl410,074,340 - 10,116,949 (-)Ensembl
RefSeq Acc Id: ENST00000382452   ⟹   ENSP00000371890
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl410,074,340 - 10,116,949 (-)Ensembl
RefSeq Acc Id: ENST00000499869   ⟹   ENSP00000427687
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl410,074,339 - 10,116,799 (-)Ensembl
RefSeq Acc Id: ENST00000502702   ⟹   ENSP00000426725
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl410,075,149 - 10,116,727 (-)Ensembl
RefSeq Acc Id: ENST00000502962
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl410,075,343 - 10,093,155 (-)Ensembl
RefSeq Acc Id: ENST00000504739
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl410,084,424 - 10,093,034 (-)Ensembl
RefSeq Acc Id: ENST00000505543
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl410,087,706 - 10,096,618 (-)Ensembl
RefSeq Acc Id: ENST00000505851
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl410,097,712 - 10,116,504 (-)Ensembl
RefSeq Acc Id: ENST00000506246
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl410,084,424 - 10,092,939 (-)Ensembl
RefSeq Acc Id: ENST00000508079   ⟹   ENSP00000425481
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl410,088,287 - 10,116,339 (-)Ensembl
RefSeq Acc Id: ENST00000508949
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl410,087,706 - 10,096,578 (-)Ensembl
RefSeq Acc Id: ENST00000509600
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl410,115,894 - 10,116,868 (-)Ensembl
RefSeq Acc Id: ENST00000509695
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl410,087,842 - 10,094,896 (-)Ensembl
RefSeq Acc Id: ENST00000510848
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl410,087,776 - 10,096,174 (-)Ensembl
RefSeq Acc Id: ENST00000514319
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl410,097,844 - 10,116,462 (-)Ensembl
RefSeq Acc Id: ENST00000515018
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl410,098,990 - 10,106,499 (-)Ensembl
RefSeq Acc Id: ENST00000515743
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl410,075,149 - 10,093,019 (-)Ensembl
RefSeq Acc Id: NM_005112   ⟹   NP_005103
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38410,074,339 - 10,116,799 (-)NCBI
GRCh37410,075,963 - 10,118,612 (-)NCBI
Build 3649,685,061 - 9,727,671 (-)NCBI Archive
HuRef49,409,667 - 9,452,321 (-)ENTREZGENE
CHM1_1410,074,119 - 10,116,732 (-)NCBI
Sequence:
RefSeq Acc Id: NM_017491   ⟹   NP_059830
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38410,074,339 - 10,116,799 (-)NCBI
GRCh37410,075,963 - 10,118,612 (-)NCBI
Build 3649,685,061 - 9,727,671 (-)NCBI Archive
HuRef49,409,667 - 9,452,321 (-)ENTREZGENE
CHM1_1410,074,119 - 10,116,732 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017008880   ⟹   XP_016864369
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38410,074,339 - 10,116,860 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_005103   ⟸   NM_005112
- Peptide Label: isoform 2
- UniProtKB: O75083 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_059830   ⟸   NM_017491
- Peptide Label: isoform 1
- UniProtKB: O75083 (UniProtKB/Swiss-Prot),   V9HWG7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016864369   ⟸   XM_017008880
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000426725   ⟸   ENST00000502702
RefSeq Acc Id: ENSP00000425481   ⟸   ENST00000508079
RefSeq Acc Id: ENSP00000427687   ⟸   ENST00000499869
RefSeq Acc Id: ENSP00000371890   ⟸   ENST00000382452
RefSeq Acc Id: ENSP00000371889   ⟸   ENST00000382451
Protein Domains
WD_REPEATS_REGION

Promoters
RGD ID:6812647
Promoter ID:HG_ACW:58338
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:WDR1.NAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 3649,717,296 - 9,717,796 (-)MPROMDB
RGD ID:6802212
Promoter ID:HG_KWN:47870
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000264785,   ENST00000382451,   ENST00000382452,   ENST00000400001,   ENST00000411154,   NM_005112,   NM_017491
Position:
Human AssemblyChrPosition (strand)Source
Build 3649,726,711 - 9,728,362 (-)MPROMDB
RGD ID:6853526
Promoter ID:EP74590
Type:initiation region
Name:HS_WDR1
Description:WD repeat domain 1.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 3649,727,467 - 9,727,527EPD
RGD ID:6867036
Promoter ID:EPDNEW_H6683
Type:initiation region
Name:WDR1_1
Description:WD repeat domain 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6684  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38410,116,760 - 10,116,820EPDNEW
RGD ID:6867038
Promoter ID:EPDNEW_H6684
Type:initiation region
Name:WDR1_2
Description:WD repeat domain 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6683  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38410,116,872 - 10,116,932EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 4p16.1(chr4:9381969-10163409)x3 copy number gain See cases [RCV000051567] Chr4:9381969..10163409 [GRCh38]
Chr4:9383695..10165033 [GRCh37]
Chr4:8992793..9774131 [NCBI36]
Chr4:4p16.1
uncertain significance
GRCh38/hg38 4p16.3-15.1(chr4:72555-28066309)x1 copy number loss See cases [RCV000051642] Chr4:72555..28066309 [GRCh38]
Chr4:72447..28067931 [GRCh37]
Chr4:62447..27677029 [NCBI36]
Chr4:4p16.3-15.1
pathogenic
GRCh38/hg38 4p16.3-15.33(chr4:56878-14499760)x1 copy number loss See cases [RCV000051614] Chr4:56878..14499760 [GRCh38]
Chr4:56772..14501384 [GRCh37]
Chr4:46772..14110482 [NCBI36]
Chr4:4p16.3-15.33
pathogenic
GRCh38/hg38 4p16.3-15.2(chr4:51519-26519788)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051752]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051752]|See cases [RCV000051752] Chr4:51519..26519788 [GRCh38]
Chr4:51413..26521410 [GRCh37]
Chr4:41413..26130508 [NCBI36]
Chr4:4p16.3-15.2
pathogenic
GRCh38/hg38 4p16.3-15.1(chr4:72555-33130620)x3 copy number gain See cases [RCV000051753] Chr4:72555..33130620 [GRCh38]
Chr4:72447..33132242 [GRCh37]
Chr4:62447..32808637 [NCBI36]
Chr4:4p16.3-15.1
pathogenic
GRCh38/hg38 4p16.3-14(chr4:85149-38700366)x3 copy number gain See cases [RCV000051757] Chr4:85149..38700366 [GRCh38]
Chr4:85040..38701987 [GRCh37]
Chr4:75040..38378382 [NCBI36]
Chr4:4p16.3-14
pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:2231690-11197847)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051758]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051758]|See cases [RCV000051758] Chr4:2231690..11197847 [GRCh38]
Chr4:2233417..11199471 [GRCh37]
Chr4:2203215..10808569 [NCBI36]
Chr4:4p16.3-16.1
pathogenic
GRCh38/hg38 4p16.3-15.2(chr4:85149-22450018)x3 copy number gain See cases [RCV000051755] Chr4:85149..22450018 [GRCh38]
Chr4:85040..22451641 [GRCh37]
Chr4:75040..22060739 [NCBI36]
Chr4:4p16.3-15.2
pathogenic
GRCh38/hg38 4p16.3-15.33(chr4:72555-11610824)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051674]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051674]|See cases [RCV000051674] Chr4:72555..11610824 [GRCh38]
Chr4:72447..11612448 [GRCh37]
Chr4:62447..11221546 [NCBI36]
Chr4:4p16.3-15.33
pathogenic
GRCh38/hg38 4p16.1(chr4:9946194-10938417)x3 copy number gain See cases [RCV000051759] Chr4:9946194..10938417 [GRCh38]
Chr4:9947818..10940041 [GRCh37]
Chr4:9556916..10549139 [NCBI36]
Chr4:4p16.1
pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:85149-17486742)x1 copy number loss See cases [RCV000051679] Chr4:85149..17486742 [GRCh38]
Chr4:85040..17488365 [GRCh37]
Chr4:75040..17097463 [NCBI36]
Chr4:4p16.3-15.32
pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:51319-10250807)x3 copy number gain See cases [RCV000051743] Chr4:51319..10250807 [GRCh38]
Chr4:51213..10252431 [GRCh37]
Chr4:41213..9861529 [NCBI36]
Chr4:4p16.3-16.1
pathogenic
GRCh38/hg38 4p16.2-16.1(chr4:5455628-10640216)x1 copy number loss See cases [RCV000053262] Chr4:5455628..10640216 [GRCh38]
Chr4:5457355..10641840 [GRCh37]
Chr4:5508256..10250938 [NCBI36]
Chr4:4p16.2-16.1
pathogenic
GRCh38/hg38 4p16.1(chr4:9946394-10449826)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054038]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054038]|See cases [RCV000054038] Chr4:9946394..10449826 [GRCh38]
Chr4:9948018..10451450 [GRCh37]
Chr4:9557116..10060548 [NCBI36]
Chr4:4p16.1
uncertain significance
GRCh38/hg38 4p16.3-14(chr4:72555-39477144)x3 copy number gain See cases [RCV000133677] Chr4:72555..39477144 [GRCh38]
Chr4:72447..39478764 [GRCh37]
Chr4:62447..39155159 [NCBI36]
Chr4:4p16.3-14
pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:78578-10335613)x1 copy number loss See cases [RCV000135336] Chr4:78578..10335613 [GRCh38]
Chr4:78470..10337237 [GRCh37]
Chr4:68470..9946335 [NCBI36]
Chr4:4p16.3-16.1
pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:78578-15625573)x3 copy number gain See cases [RCV000135349] Chr4:78578..15625573 [GRCh38]
Chr4:78470..15627196 [GRCh37]
Chr4:68470..15236294 [NCBI36]
Chr4:4p16.3-15.32
pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:72555-17278013)x1 copy number loss See cases [RCV000135657] Chr4:72555..17278013 [GRCh38]
Chr4:72447..17279636 [GRCh37]
Chr4:62447..16888734 [NCBI36]
Chr4:4p16.3-15.32
pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:72555-15658035)x1 copy number loss See cases [RCV000135532] Chr4:72555..15658035 [GRCh38]
Chr4:72447..15659658 [GRCh37]
Chr4:62447..15268756 [NCBI36]
Chr4:4p16.3-15.32
pathogenic
GRCh38/hg38 4p16.1(chr4:9813220-10817946)x3 copy number gain See cases [RCV000136068] Chr4:9813220..10817946 [GRCh38]
Chr4:9814844..10819570 [GRCh37]
Chr4:9423942..10428668 [NCBI36]
Chr4:4p16.1
uncertain significance
GRCh38/hg38 4p16.3-16.1(chr4:72555-10250666)x1 copy number loss See cases [RCV000137036] Chr4:72555..10250666 [GRCh38]
Chr4:72447..10252290 [GRCh37]
Chr4:62447..9861388 [NCBI36]
Chr4:4p16.3-16.1
pathogenic|uncertain significance
GRCh38/hg38 4p16.3-15.31(chr4:51519-17798196)x3 copy number gain See cases [RCV000137071] Chr4:51519..17798196 [GRCh38]
Chr4:51413..17799819 [GRCh37]
Chr4:41413..17408917 [NCBI36]
Chr4:4p16.3-15.31
pathogenic
GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3 copy number gain See cases [RCV000137261] Chr4:36424..47491595 [GRCh38]
Chr4:36424..47493612 [GRCh37]
Chr4:26424..47188369 [NCBI36]
Chr4:4p16.3-12
pathogenic
GRCh38/hg38 4p16.3-15.33(chr4:72555-12898612)x1 copy number loss See cases [RCV000138198] Chr4:72555..12898612 [GRCh38]
Chr4:72447..12900236 [GRCh37]
Chr4:62447..12509334 [NCBI36]
Chr4:4p16.3-15.33
pathogenic
GRCh38/hg38 4p16.1(chr4:10011787-10873830)x3 copy number gain See cases [RCV000137872] Chr4:10011787..10873830 [GRCh38]
Chr4:10013411..10875454 [GRCh37]
Chr4:9622509..10484552 [NCBI36]
Chr4:4p16.1
uncertain significance
GRCh38/hg38 4p16.3-15.31(chr4:72555-21022414)x3 copy number gain See cases [RCV000138305] Chr4:72555..21022414 [GRCh38]
Chr4:72447..21024037 [GRCh37]
Chr4:62447..20633135 [NCBI36]
Chr4:4p16.3-15.31
pathogenic
GRCh38/hg38 4p16.1(chr4:9813220-11009701)x3 copy number gain See cases [RCV000138398] Chr4:9813220..11009701 [GRCh38]
Chr4:9814844..11011325 [GRCh37]
Chr4:9423942..10620423 [NCBI36]
Chr4:4p16.1
uncertain significance
GRCh38/hg38 4p16.1(chr4:9813097-10873771)x3 copy number gain See cases [RCV000140423] Chr4:9813097..10873771 [GRCh38]
Chr4:9814721..10875395 [GRCh37]
Chr4:9423819..10484493 [NCBI36]
Chr4:4p16.1
uncertain significance
GRCh38/hg38 4p16.3-15.32(chr4:37335-15869056)x1 copy number loss See cases [RCV000139551] Chr4:37335..15869056 [GRCh38]
Chr4:37336..15870679 [GRCh37]
Chr4:27336..15479777 [NCBI36]
Chr4:4p16.3-15.32
pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:4426403-17460549)x1 copy number loss See cases [RCV000141502] Chr4:4426403..17460549 [GRCh38]
Chr4:4428130..17462172 [GRCh37]
Chr4:4479031..17071270 [NCBI36]
Chr4:4p16.3-15.32
pathogenic
GRCh38/hg38 4p16.1(chr4:9846063-10651440)x3 copy number gain See cases [RCV000142152] Chr4:9846063..10651440 [GRCh38]
Chr4:9847687..10653064 [GRCh37]
Chr4:9456785..10262162 [NCBI36]
Chr4:4p16.1
uncertain significance
GRCh38/hg38 4p16.1(chr4:9369290-10250666)x3 copy number gain See cases [RCV000142611] Chr4:9369290..10250666 [GRCh38]
Chr4:9371016..10252290 [GRCh37]
Chr4:8980114..9861388 [NCBI36]
Chr4:4p16.1
uncertain significance
GRCh38/hg38 4p16.1(chr4:9500007-10147031)x3 copy number gain See cases [RCV000143287] Chr4:9500007..10147031 [GRCh38]
Chr4:9501651..10148655 [GRCh37]
Chr4:9110749..9757753 [NCBI36]
Chr4:4p16.1
uncertain significance
GRCh38/hg38 4p16.1(chr4:9813097-10714839)x3 copy number gain See cases [RCV000143145] Chr4:9813097..10714839 [GRCh38]
Chr4:9814721..10716463 [GRCh37]
Chr4:9423819..10325561 [NCBI36]
Chr4:4p16.1
likely benign|uncertain significance
GRCh38/hg38 4p16.3-15.31(chr4:68453-20385608)x1 copy number loss See cases [RCV000143713] Chr4:68453..20385608 [GRCh38]
Chr4:68345..20387231 [GRCh37]
Chr4:58345..19996329 [NCBI36]
Chr4:4p16.3-15.31
pathogenic
GRCh38/hg38 4p16.3-15.33(chr4:68453-14612453)x1 copy number loss See cases [RCV000143686] Chr4:68453..14612453 [GRCh38]
Chr4:68345..14614077 [GRCh37]
Chr4:58345..14223175 [NCBI36]
Chr4:4p16.3-15.33
pathogenic
GRCh37/hg19 4p16.3-15.31(chr4:44020-19796182)x1 copy number loss See cases [RCV000203431] Chr4:44020..19796182 [GRCh37]
Chr4:4p16.3-15.31
pathogenic
GRCh37/hg19 4p16.1(chr4:9842917-10410994)x4 copy number gain See cases [RCV000449068] Chr4:9842917..10410994 [GRCh37]
Chr4:4p16.1
uncertain significance
GRCh37/hg19 4p16.3-15.1(chr4:71552-29006745)x1 copy number loss See cases [RCV000240003] Chr4:71552..29006745 [GRCh37]
Chr4:4p16.3-15.1
pathogenic
GRCh37/hg19 4p16.1-15.31(chr4:6447048-20490737)x3 copy number gain See cases [RCV000240007] Chr4:6447048..20490737 [GRCh37]
Chr4:4p16.1-15.31
pathogenic
GRCh37/hg19 4p16.3-11(chr4:12440-49064044)x3 copy number gain See cases [RCV000240562] Chr4:12440..49064044 [GRCh37]
Chr4:4p16.3-11
pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 copy number gain See cases [RCV000449078] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11
pathogenic
GRCh37/hg19 4p16.1(chr4:9783445-10679534)x3 copy number gain See cases [RCV000449135] Chr4:9783445..10679534 [GRCh37]
Chr4:4p16.1
likely benign
GRCh37/hg19 4p16.3-15.31(chr4:68345-20533787)x1 copy number loss See cases [RCV000449197] Chr4:68345..20533787 [GRCh37]
Chr4:4p16.3-15.31
pathogenic
GRCh37/hg19 4p16.3-15.33(chr4:68345-15197147)x1 copy number loss See cases [RCV000446287] Chr4:68345..15197147 [GRCh37]
Chr4:4p16.3-15.33
pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49093788)x3 copy number gain See cases [RCV000446451] Chr4:68345..49093788 [GRCh37]
Chr4:4p16.3-11
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.1(chr4:8683743-10358964)x3 copy number gain See cases [RCV000447041] Chr4:8683743..10358964 [GRCh37]
Chr4:4p16.1
uncertain significance
GRCh37/hg19 4p16.3-15.32(chr4:71552-15302739)x1 copy number loss See cases [RCV000448933] Chr4:71552..15302739 [GRCh37]
Chr4:4p16.3-15.32
pathogenic
GRCh37/hg19 4p16.1(chr4:9688013-10869048)x3 copy number gain See cases [RCV000448440] Chr4:9688013..10869048 [GRCh37]
Chr4:4p16.1
uncertain significance
GRCh37/hg19 4p16.3-16.1(chr4:68345-10336032)x1 copy number loss See cases [RCV000512104] Chr4:68345..10336032 [GRCh37]
Chr4:4p16.3-16.1
pathogenic
GRCh37/hg19 4p16.3-15.32(chr4:68345-15973383)x1 copy number loss See cases [RCV000510662] Chr4:68345..15973383 [GRCh37]
Chr4:4p16.3-15.32
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.1(chr4:10032249-10885795)x3 copy number gain See cases [RCV000511401] Chr4:10032249..10885795 [GRCh37]
Chr4:4p16.1
uncertain significance
GRCh37/hg19 4p16.3-15.33(chr4:68345-13770107)x1 copy number loss See cases [RCV000511351] Chr4:68345..13770107 [GRCh37]
Chr4:4p16.3-15.33
pathogenic
GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3 copy number gain See cases [RCV000511193] Chr4:68345..66440622 [GRCh37]
Chr4:4p16.3-q13.1
pathogenic
Single allele inversion Dihydropteridine reductase deficiency [RCV000768549] Chr4:8398067..17505522 [GRCh38]
Chr4:4p16.1-15.32
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 copy number gain See cases [RCV000512241] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
NM_017491.5(WDR1):c.348G>T (p.Arg116Ser) single nucleotide variant not provided [RCV000658993] Chr4:10099021 [GRCh38]
Chr4:10100645 [GRCh37]
Chr4:4p16.1
uncertain significance
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 copy number gain not provided [RCV000682363] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11
pathogenic
GRCh37/hg19 4p16.3-15.1(chr4:4165334-33324781)x1 copy number loss not provided [RCV000682373] Chr4:4165334..33324781 [GRCh37]
Chr4:4p16.3-15.1
pathogenic
GRCh37/hg19 4p16.1(chr4:9663395-10653064)x3 copy number gain not provided [RCV000682384] Chr4:9663395..10653064 [GRCh37]
Chr4:4p16.1
uncertain significance
GRCh37/hg19 4p16.1(chr4:9748015-10077638)x3 copy number gain not provided [RCV000682385] Chr4:9748015..10077638 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_017491.5(WDR1):c.397T>C (p.Trp133Arg) single nucleotide variant not provided [RCV001532017] Chr4:10097872 [GRCh38]
Chr4:10099496 [GRCh37]
Chr4:4p16.1
uncertain significance
GRCh37/hg19 4p16.1(chr4:9485300-10274330)x0 copy number loss not provided [RCV000743359] Chr4:9485300..10274330 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9485300-10292034)x0 copy number loss not provided [RCV000743360] Chr4:9485300..10292034 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9486060-10273431)x0 copy number loss not provided [RCV000743361] Chr4:9486060..10273431 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9486060-10274994)x0 copy number loss not provided [RCV000743362] Chr4:9486060..10274994 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9486060-10276250)x0 copy number loss not provided [RCV000743363] Chr4:9486060..10276250 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9486060-10400156)x0 copy number loss not provided [RCV000743364] Chr4:9486060..10400156 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9486060-10409841)x0 copy number loss not provided [RCV000743365] Chr4:9486060..10409841 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9486060-10726103)x0 copy number loss not provided [RCV000743366] Chr4:9486060..10726103 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9486060-10727697)x0 copy number loss not provided [RCV000743367] Chr4:9486060..10727697 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9492403-10310495)x0 copy number loss not provided [RCV000743368] Chr4:9492403..10310495 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9492403-10342028)x0 copy number loss not provided [RCV000743369] Chr4:9492403..10342028 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9492403-10383005)x0 copy number loss not provided [RCV000743370] Chr4:9492403..10383005 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9626304-10274383)x0 copy number loss not provided [RCV000743371] Chr4:9626304..10274383 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9626897-11038982)x0 copy number loss not provided [RCV000743372] Chr4:9626897..11038982 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9832512-10400156)x0 copy number loss not provided [RCV000743373] Chr4:9832512..10400156 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9872364-10136753)x0 copy number loss not provided [RCV000743374] Chr4:9872364..10136753 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9872364-10396125)x0 copy number loss not provided [RCV000743375] Chr4:9872364..10396125 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:10115065-10149595)x1 copy number loss not provided [RCV000743382] Chr4:10115065..10149595 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:10115065-10159020)x1 copy number loss not provided [RCV000743383] Chr4:10115065..10159020 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 copy number gain not provided [RCV000743155] Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 copy number gain not provided [RCV000743156] Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 copy number gain not provided [RCV000743147] Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-11(chr4:1356924-49659859)x3 copy number gain not provided [RCV000743201] Chr4:1356924..49659859 [GRCh37]
Chr4:4p16.3-11
pathogenic
GRCh37/hg19 4p16.1(chr4:9474235-10271645)x0 copy number loss not provided [RCV000743302] Chr4:9474235..10271645 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9474235-10272429)x0 copy number loss not provided [RCV000743303] Chr4:9474235..10272429 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9474235-10272591)x0 copy number loss not provided [RCV000743304] Chr4:9474235..10272591 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9474235-10272605)x0 copy number loss not provided [RCV000743305] Chr4:9474235..10272605 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9474235-10272953)x0 copy number loss not provided [RCV000743306] Chr4:9474235..10272953 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9474235-10273244)x0 copy number loss not provided [RCV000743307] Chr4:9474235..10273244 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9474235-10273836)x0 copy number loss not provided [RCV000743308] Chr4:9474235..10273836 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9474235-10274383)x0 copy number loss not provided [RCV000743309] Chr4:9474235..10274383 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9474235-10274626)x0 copy number loss not provided [RCV000743310] Chr4:9474235..10274626 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9474235-10274994)x0 copy number loss not provided [RCV000743311] Chr4:9474235..10274994 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9474235-10275470)x0 copy number loss not provided [RCV000743312] Chr4:9474235..10275470 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9474235-10283627)x0 copy number loss not provided [RCV000743313] Chr4:9474235..10283627 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9474235-10284993)x0 copy number loss not provided [RCV000743314] Chr4:9474235..10284993 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9474235-10292034)x0 copy number loss not provided [RCV000743315] Chr4:9474235..10292034 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9474235-10310495)x0 copy number loss not provided [RCV000743316] Chr4:9474235..10310495 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9474235-10311074)x0 copy number loss not provided [RCV000743317] Chr4:9474235..10311074 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9474235-10335052)x0 copy number loss not provided [RCV000743318] Chr4:9474235..10335052 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9474235-10342028)x0 copy number loss not provided [RCV000743319] Chr4:9474235..10342028 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9474235-10342723)x0 copy number loss not provided [RCV000743320] Chr4:9474235..10342723 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9474235-10394063)x0 copy number loss not provided [RCV000743321] Chr4:9474235..10394063 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9474235-10396125)x0 copy number loss not provided [RCV000743322] Chr4:9474235..10396125 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9474235-10396709)x0 copy number loss not provided [RCV000743323] Chr4:9474235..10396709 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.3-12(chr4:49450-46339070)x3 copy number gain not provided [RCV000743154] Chr4:49450..46339070 [GRCh37]
Chr4:4p16.3-12
pathogenic
GRCh37/hg19 4p16.1(chr4:9474235-10398081)x0 copy number loss not provided [RCV000743324] Chr4:9474235..10398081 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9474235-10399316)x0 copy number loss not provided [RCV000743325] Chr4:9474235..10399316 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9474235-10400156)x0 copy number loss not provided [RCV000743326] Chr4:9474235..10400156 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9474235-10402173)x0 copy number loss not provided [RCV000743327] Chr4:9474235..10402173 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9474235-10402457)x0 copy number loss not provided [RCV000743328] Chr4:9474235..10402457 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9474235-10419465)x0 copy number loss not provided [RCV000743329] Chr4:9474235..10419465 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9474235-10538501)x0 copy number loss not provided [RCV000743330] Chr4:9474235..10538501 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9474235-10704867)x0 copy number loss not provided [RCV000743331] Chr4:9474235..10704867 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9474235-10706422)x0 copy number loss not provided [RCV000743332] Chr4:9474235..10706422 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9474235-10730199)x0 copy number loss not provided [RCV000743333] Chr4:9474235..10730199 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9474235-10735895)x0 copy number loss not provided [RCV000743334] Chr4:9474235..10735895 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9474235-10739561)x0 copy number loss not provided [RCV000743335] Chr4:9474235..10739561 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9474235-11016253)x0 copy number loss not provided [RCV000743336] Chr4:9474235..11016253 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9474235-11040290)x0 copy number loss not provided [RCV000743337] Chr4:9474235..11040290 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9476332-10324160)x0 copy number loss not provided [RCV000743338] Chr4:9476332..10324160 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9476603-10274383)x0 copy number loss not provided [RCV000743339] Chr4:9476603..10274383 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9476926-10272429)x0 copy number loss not provided [RCV000743340] Chr4:9476926..10272429 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9476926-10274383)x0 copy number loss not provided [RCV000743341] Chr4:9476926..10274383 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9476926-10275470)x0 copy number loss not provided [RCV000743342] Chr4:9476926..10275470 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9476926-10292034)x0 copy number loss not provided [RCV000743343] Chr4:9476926..10292034 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9476926-10378602)x0 copy number loss not provided [RCV000743344] Chr4:9476926..10378602 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9476926-10396125)x0 copy number loss not provided [RCV000743345] Chr4:9476926..10396125 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9476926-10402457)x0 copy number loss not provided [RCV000743346] Chr4:9476926..10402457 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9476926-10649456)x0 copy number loss not provided [RCV000743347] Chr4:9476926..10649456 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9476926-10739561)x0 copy number loss not provided [RCV000743348] Chr4:9476926..10739561 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9477103-10396125)x0 copy number loss not provided [RCV000743349] Chr4:9477103..10396125 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9477442-10424323)x0 copy number loss not provided [RCV000743350] Chr4:9477442..10424323 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9477503-10274279)x0 copy number loss not provided [RCV000743351] Chr4:9477503..10274279 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9477503-10274626)x0 copy number loss not provided [RCV000743352] Chr4:9477503..10274626 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9477503-10292034)x0 copy number loss not provided [RCV000743353] Chr4:9477503..10292034 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9477503-10396125)x0 copy number loss not provided [RCV000743354] Chr4:9477503..10396125 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9477503-10699551)x0 copy number loss not provided [RCV000743355] Chr4:9477503..10699551 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9477503-10739561)x0 copy number loss not provided [RCV000743356] Chr4:9477503..10739561 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9480235-10335052)x0 copy number loss not provided [RCV000743357] Chr4:9480235..10335052 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9485300-10272429)x0 copy number loss not provided [RCV000743358] Chr4:9485300..10272429 [GRCh37]
Chr4:4p16.1
benign
NM_017491.5(WDR1):c.414T>A (p.Ser138=) single nucleotide variant not provided [RCV000896451] Chr4:10097855 [GRCh38]
Chr4:10099479 [GRCh37]
Chr4:4p16.1
likely benign
NM_000384.3(APOB):c.3122-6G>A single nucleotide variant not provided [RCV001702290] Chr4:10097780 [GRCh38]
Chr4:10099404 [GRCh37]
Chr4:4p16.1
likely benign
NM_017491.5(WDR1):c.1164G>A (p.Val388=) single nucleotide variant not provided [RCV000914424] Chr4:10083054 [GRCh38]
Chr4:10084678 [GRCh37]
Chr4:4p16.1
likely benign
NM_017491.5(WDR1):c.17-8C>G single nucleotide variant not provided [RCV000883144] Chr4:10116242 [GRCh38]
Chr4:10117866 [GRCh37]
Chr4:4p16.1
benign|likely benign
NM_017491.5(WDR1):c.1284+9C>T single nucleotide variant not provided [RCV000895561] Chr4:10081348 [GRCh38]
Chr4:10082972 [GRCh37]
Chr4:4p16.1
likely benign
GRCh37/hg19 4p16.1(chr4:9827438-10939900) copy number gain not provided [RCV000767791] Chr4:9827438..10939900 [GRCh37]
Chr4:4p16.1
pathogenic
NM_017491.5(WDR1):c.1568C>T (p.Ser523Leu) single nucleotide variant not provided [RCV000915860] Chr4:10077754 [GRCh38]
Chr4:10079378 [GRCh37]
Chr4:4p16.1
benign
NM_017491.5(WDR1):c.1198G>A (p.Gly400Arg) single nucleotide variant not provided [RCV000998221] Chr4:10081443 [GRCh38]
Chr4:10083067 [GRCh37]
Chr4:4p16.1
uncertain significance
GRCh37/hg19 4p16.1(chr4:9663649-10767260)x3 copy number gain not provided [RCV000848809] Chr4:9663649..10767260 [GRCh37]
Chr4:4p16.1
uncertain significance
GRCh37/hg19 4p16.1(chr4:9843086-10946046)x3 copy number gain not provided [RCV000846503] Chr4:9843086..10946046 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_017491.5(WDR1):c.182T>C (p.Val61Ala) single nucleotide variant not provided [RCV000958332] Chr4:10103943 [GRCh38]
Chr4:10105567 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.3-15.33(chr4:3374195-13468480)x1 copy number loss not provided [RCV000845896] Chr4:3374195..13468480 [GRCh37]
Chr4:4p16.3-15.33
pathogenic
GRCh37/hg19 4p16.1(chr4:9540691-10209966)x3 copy number gain not provided [RCV000848955] Chr4:9540691..10209966 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_017491.5(WDR1):c.1270G>A (p.Val424Met) single nucleotide variant Lazy leukocyte syndrome [RCV001250780] Chr4:10081371 [GRCh38]
Chr4:10082995 [GRCh37]
Chr4:4p16.1
pathogenic
NM_017491.5(WDR1):c.435C>G (p.His145Gln) single nucleotide variant Lazy leukocyte syndrome [RCV001250783] Chr4:10097834 [GRCh38]
Chr4:10099458 [GRCh37]
Chr4:4p16.1
pathogenic
NM_017491.5(WDR1):c.361G>A (p.Gly121Arg) single nucleotide variant Lazy leukocyte syndrome [RCV001250781] Chr4:10099008 [GRCh38]
Chr4:10100632 [GRCh37]
Chr4:4p16.1
pathogenic
GRCh37/hg19 4p16.2-15.32(chr4:5914109-17264668)x1 copy number loss not provided [RCV001005519] Chr4:5914109..17264668 [GRCh37]
Chr4:4p16.2-15.32
likely pathogenic
NM_017491.5(WDR1):c.510C>T (p.Cys170=) single nucleotide variant not provided [RCV000912885] Chr4:10097759 [GRCh38]
Chr4:10099383 [GRCh37]
Chr4:4p16.1
likely benign
NM_017491.5(WDR1):c.630C>T (p.Asp210=) single nucleotide variant not provided [RCV001532016] Chr4:10088670 [GRCh38]
Chr4:10090294 [GRCh37]
Chr4:4p16.1
likely benign
GRCh37/hg19 4p16.3-15.31(chr4:68598-18912995)x1 copy number loss not provided [RCV001537927] Chr4:68598..18912995 [GRCh37]
Chr4:4p16.3-15.31
pathogenic
GRCh37/hg19 4p16.3-15.2(chr4:68345-27423424)x3 copy number gain not provided [RCV001005510] Chr4:68345..27423424 [GRCh37]
Chr4:4p16.3-15.2
pathogenic
GRCh37/hg19 4p16.3-15.2(chr4:49450-24280482)x1 copy number loss See cases [RCV001007422] Chr4:49450..24280482 [GRCh37]
Chr4:4p16.3-15.2
pathogenic
NM_017491.5(WDR1):c.76G>A (p.Asp26Asn) single nucleotide variant Lazy leukocyte syndrome [RCV001250778] Chr4:10116175 [GRCh38]
Chr4:10117799 [GRCh37]
Chr4:4p16.1
pathogenic
NM_017491.5(WDR1):c.877C>T (p.Leu293Phe) single nucleotide variant Lazy leukocyte syndrome [RCV001250785] Chr4:10087781 [GRCh38]
Chr4:10089405 [GRCh37]
Chr4:4p16.1
pathogenic
NM_017491.5(WDR1):c.1251C>T (p.Pro417=) single nucleotide variant not provided [RCV001532015] Chr4:10081390 [GRCh38]
Chr4:10083014 [GRCh37]
Chr4:4p16.1
likely benign
NM_017491.5(WDR1):c.243G>A (p.Lys81=) single nucleotide variant not provided [RCV001532018] Chr4:10099126 [GRCh38]
Chr4:10100750 [GRCh37]
Chr4:4p16.1
likely benign
GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3 copy number gain See cases [RCV001194594] Chr4:49450..49620898 [GRCh37]
Chr4:4p16.3-11
pathogenic
NM_017491.5(WDR1):c.1715A>T (p.Asp572Val) single nucleotide variant Lazy leukocyte syndrome [RCV001250784] Chr4:10075484 [GRCh38]
Chr4:10077108 [GRCh37]
Chr4:4p16.1
pathogenic
GRCh37/hg19 4p16.1-15.33(chr4:9896293-13242797)x3 copy number gain See cases [RCV001195074] Chr4:9896293..13242797 [GRCh37]
Chr4:4p16.1-15.33
uncertain significance
GRCh37/hg19 4p16.3-16.1(chr4:68345-10312798)x1 copy number loss not provided [RCV001005514] Chr4:68345..10312798 [GRCh37]
Chr4:4p16.3-16.1
pathogenic
GRCh37/hg19 4p16.1(chr4:9501650-10794722)x3 copy number gain not provided [RCV001005523] Chr4:9501650..10794722 [GRCh37]
Chr4:4p16.1
likely benign
GRCh37/hg19 4p16.1(chr4:9544188-10738030)x3 copy number gain not provided [RCV001005524] Chr4:9544188..10738030 [GRCh37]
Chr4:4p16.1
likely benign
NM_017491.5(WDR1):c.16AAG[1] (p.Lys7del) deletion Lazy leukocyte syndrome [RCV001250779] Chr4:10116230..10116232 [GRCh38]
Chr4:10117854..10117856 [GRCh37]
Chr4:4p16.1
pathogenic
NM_017491.5(WDR1):c.856C>G (p.Leu286Val) single nucleotide variant Lazy leukocyte syndrome [RCV001250782] Chr4:10087802 [GRCh38]
Chr4:10089426 [GRCh37]
Chr4:4p16.1
pathogenic
NM_017491.5(WDR1):c.392T>G (p.Phe131Cys) single nucleotide variant Intellectual developmental disorder 61 [RCV000999499] Chr4:10097877 [GRCh38]
Chr4:10099501 [GRCh37]
Chr4:4p16.1
pathogenic
NM_017491.5(WDR1):c.1433C>T (p.Thr478Met) single nucleotide variant WDR1 deficiency [RCV001267809] Chr4:10077889 [GRCh38]
Chr4:10079513 [GRCh37]
Chr4:4p16.1
uncertain significance
GRCh37/hg19 4p16.1(chr4:9748015-10942200)x3 copy number gain not provided [RCV001259847] Chr4:9748015..10942200 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_017491.5(WDR1):c.932A>G (p.Lys311Arg) single nucleotide variant not provided [RCV001324543] Chr4:10087726 [GRCh38]
Chr4:10089350 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_017491.5(WDR1):c.201G>A (p.Ala67=) single nucleotide variant not provided [RCV001433221] Chr4:10103924 [GRCh38]
Chr4:10105548 [GRCh37]
Chr4:4p16.1
likely benign
NM_017491.5(WDR1):c.651C>T (p.Asp217=) single nucleotide variant not provided [RCV001396517] Chr4:10088359 [GRCh38]
Chr4:10089983 [GRCh37]
Chr4:4p16.1
likely benign
NM_017491.5(WDR1):c.1561G>A (p.Gly521Ser) single nucleotide variant not provided [RCV001367820] Chr4:10077761 [GRCh38]
Chr4:10079385 [GRCh37]
Chr4:4p16.1
uncertain significance
GRCh37/hg19 4p16.3-15.1(chr4:69671-29702595)x3 copy number gain not provided [RCV001537928] Chr4:69671..29702595 [GRCh37]
Chr4:4p16.3-15.1
pathogenic
NM_017491.5(WDR1):c.1427G>A (p.Gly476Asp) single nucleotide variant not provided [RCV001310827] Chr4:10077895 [GRCh38]
Chr4:10079519 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_017491.5(WDR1):c.481C>T (p.Arg161Trp) single nucleotide variant not provided [RCV001371086] Chr4:10097788 [GRCh38]
Chr4:10099412 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_017491.5(WDR1):c.512C>T (p.Ala171Val) single nucleotide variant not provided [RCV001363188] Chr4:10097757 [GRCh38]
Chr4:10099381 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_017491.5(WDR1):c.208G>A (p.Gly70Arg) single nucleotide variant not provided [RCV001312037] Chr4:10103917 [GRCh38]
Chr4:10105541 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_017491.5(WDR1):c.507C>T (p.Asn169=) single nucleotide variant not provided [RCV001513629] Chr4:10097762 [GRCh38]
Chr4:10099386 [GRCh37]
Chr4:4p16.1
benign
NM_017491.5(WDR1):c.762G>A (p.Gly254=) single nucleotide variant not provided [RCV001424951] Chr4:10087896 [GRCh38]
Chr4:10089520 [GRCh37]
Chr4:4p16.1
likely benign
NM_017491.5(WDR1):c.1284+4_1284+5dup duplication not provided [RCV001517206] Chr4:10081350..10081351 [GRCh38]
Chr4:10082974..10082975 [GRCh37]
Chr4:4p16.1
benign
NM_017491.5(WDR1):c.230-18G>A single nucleotide variant not provided [RCV001523315] Chr4:10099157 [GRCh38]
Chr4:10100781 [GRCh37]
Chr4:4p16.1
benign
NM_017491.5(WDR1):c.1569G>A (p.Ser523=) single nucleotide variant not provided [RCV001518001] Chr4:10077753 [GRCh38]
Chr4:10079377 [GRCh37]
Chr4:4p16.1
benign
NM_017491.5(WDR1):c.553A>G (p.Ile185Val) single nucleotide variant not provided [RCV001518002] Chr4:10097716 [GRCh38]
Chr4:10099340 [GRCh37]
Chr4:4p16.1
benign
NM_017491.5(WDR1):c.1570-12A>T single nucleotide variant not provided [RCV001512794] Chr4:10077460 [GRCh38]
Chr4:10079084 [GRCh37]
Chr4:4p16.1
benign
NM_017491.5(WDR1):c.17-16A>G single nucleotide variant not provided [RCV001393000] Chr4:10116250 [GRCh38]
Chr4:10117874 [GRCh37]
Chr4:4p16.1
likely benign
NM_017491.5(WDR1):c.1641T>C (p.Phe547=) single nucleotide variant not provided [RCV001439783] Chr4:10077377 [GRCh38]
Chr4:10079001 [GRCh37]
Chr4:4p16.1
likely benign
NM_017491.5(WDR1):c.717+12C>T single nucleotide variant not provided [RCV001440240] Chr4:10088281 [GRCh38]
Chr4:10089905 [GRCh37]
Chr4:4p16.1
likely benign
NM_017491.5(WDR1):c.1338C>T (p.Tyr446=) single nucleotide variant not provided [RCV001510225] Chr4:10078948 [GRCh38]
Chr4:10080572 [GRCh37]
Chr4:4p16.1
benign|likely benign
NM_017491.5(WDR1):c.777G>A (p.Lys259=) single nucleotide variant not provided [RCV001510834] Chr4:10087881 [GRCh38]
Chr4:10089505 [GRCh37]
Chr4:4p16.1
benign
NM_017491.5(WDR1):c.1196+12C>T single nucleotide variant not provided [RCV001516402] Chr4:10083010 [GRCh38]
Chr4:10084634 [GRCh37]
Chr4:4p16.1
benign
NM_017491.5(WDR1):c.1266G>A (p.Val422=) single nucleotide variant not provided [RCV001517473] Chr4:10081375 [GRCh38]
Chr4:10082999 [GRCh37]
Chr4:4p16.1
benign
NM_017491.5(WDR1):c.732C>T (p.Pro244=) single nucleotide variant not provided [RCV001435902] Chr4:10087926 [GRCh38]
Chr4:10089550 [GRCh37]
Chr4:4p16.1
likely benign
NM_017491.5(WDR1):c.743A>G (p.His248Arg) single nucleotide variant not provided [RCV001510022] Chr4:10087915 [GRCh38]
Chr4:10089539 [GRCh37]
Chr4:4p16.1
benign
NM_017491.5(WDR1):c.138+9C>T single nucleotide variant not provided [RCV001510424] Chr4:10116104 [GRCh38]
Chr4:10117728 [GRCh37]
Chr4:4p16.1
benign
NM_017491.5(WDR1):c.717+10A>T single nucleotide variant not provided [RCV001521253] Chr4:10088283 [GRCh38]
Chr4:10089907 [GRCh37]
Chr4:4p16.1
benign
NM_017491.5(WDR1):c.1587T>C (p.Tyr529=) single nucleotide variant not provided [RCV001404801] Chr4:10077431 [GRCh38]
Chr4:10079055 [GRCh37]
Chr4:4p16.1
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:12754 AgrOrtholog
COSMIC WDR1 COSMIC
Ensembl Genes ENSG00000071127 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000371889 UniProtKB/Swiss-Prot
  ENSP00000371890 UniProtKB/Swiss-Prot
  ENSP00000425481 UniProtKB/TrEMBL
  ENSP00000426725 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000427687 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000382451 UniProtKB/Swiss-Prot
  ENST00000382452 UniProtKB/Swiss-Prot
  ENST00000499869 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000502702 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000508079 UniProtKB/TrEMBL
Gene3D-CATH 2.130.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000071127 GTEx
HGNC ID HGNC:12754 ENTREZGENE
Human Proteome Map WDR1 Human Proteome Map
InterPro G-protein_beta_WD-40_rep UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  N2O_reductase_N 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_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40_repeat_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:9948 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 9948 ENTREZGENE
OMIM 150550 OMIM
  604734 OMIM
Pfam WD40 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA37358 PharmGKB
PRINTS GPROTEINBRPT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE WD_REPEATS_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD_REPEATS_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD_REPEATS_REGION UniProtKB/Swiss-Prot
SMART WD40 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF50974 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF50978 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt D6RD66_HUMAN UniProtKB/TrEMBL
  L8E9Y5_HUMAN UniProtKB/TrEMBL
  O75083 ENTREZGENE
  Q53GN4_HUMAN UniProtKB/TrEMBL
  V9HWG7 ENTREZGENE, UniProtKB/TrEMBL
  WDR1_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary A8K6E9 UniProtKB/Swiss-Prot
  A8MPU4 UniProtKB/Swiss-Prot
  O75313 UniProtKB/Swiss-Prot
  Q8N6E5 UniProtKB/Swiss-Prot
  Q9UG05 UniProtKB/Swiss-Prot
  Q9UG78 UniProtKB/Swiss-Prot
  Q9UQE0 UniProtKB/Swiss-Prot