WDR26 (WD repeat domain 26) - Rat Genome Database

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Gene: WDR26 (WD repeat domain 26) Homo sapiens
Analyze
Symbol: WDR26
Name: WD repeat domain 26
RGD ID: 1348746
HGNC Page HGNC:21208
Description: Predicted to be involved in proteasome-mediated ubiquitin-dependent protein catabolic process. Located in cytosol; mitochondrion; and nucleoplasm. Part of ubiquitin ligase complex.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CDW2; CUL4- and DDB1-associated WDR protein 2; FLJ21016; GID complex subunit 7 homolog; GID7; MIP2; myocardial ischemic preconditioning up-regulated protein 2; myocardial ischemic preconditioning upregulated protein 2; SKDEAS; WD repeat-containing protein 26
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
GRCh381224,385,146 - 224,434,797 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1224,385,146 - 224,437,033 (-)EnsemblGRCh38hg38GRCh38
GRCh371224,572,848 - 224,622,499 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361222,639,815 - 222,688,335 (-)NCBINCBI36Build 36hg18NCBI36
Build 341220,879,927 - 220,928,447NCBI
Celera1197,763,775 - 197,812,936 (-)NCBICelera
Cytogenetic Map1q42.11-q42.12NCBI
HuRef1195,092,877 - 195,142,018 (-)NCBIHuRef
CHM1_11225,845,217 - 225,894,316 (-)NCBICHM1_1
T2T-CHM13v2.01223,573,956 - 223,623,646 (-)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
(1->4)-beta-D-glucan  (ISO)
1,2-dimethylhydrazine  (ISO)
14-Deoxy-11,12-didehydroandrographolide  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
3-methylcholanthrene  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
5-methoxy-2-\{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl\}-1H-benzimidazole  (ISO)
6-propyl-2-thiouracil  (ISO)
allethrin  (ISO)
amiodarone  (ISO)
amitrole  (ISO)
Aroclor 1254  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
benzbromarone  (ISO)
benzo[a]pyrene  (EXP)
benzo[a]pyrene diol epoxide I  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP)
butanal  (EXP)
CGP 52608  (EXP)
choline  (ISO)
cisplatin  (EXP)
clobetasol  (ISO)
clofibrate  (ISO)
cobalt dichloride  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
cyclosporin A  (ISO)
cyhalothrin  (ISO)
cypermethrin  (ISO)
dexamethasone  (EXP)
dibutyl phthalate  (ISO)
dioxygen  (ISO)
doxorubicin  (EXP)
enzyme inhibitor  (EXP)
fenvalerate  (ISO)
folic acid  (ISO)
FR900359  (EXP)
fulvestrant  (EXP)
gentamycin  (ISO)
indometacin  (EXP)
ivermectin  (EXP)
ketoconazole  (EXP)
L-ethionine  (ISO)
L-methionine  (ISO)
leflunomide  (ISO)
methimazole  (ISO)
methotrexate  (EXP)
omeprazole  (ISO)
oxaliplatin  (ISO)
paracetamol  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
pirinixic acid  (ISO)
pyrethrins  (ISO)
rimonabant  (ISO)
sodium arsenate  (ISO)
succimer  (ISO)
sunitinib  (EXP)
tert-butyl hydroperoxide  (EXP)
thioacetamide  (ISO)
topotecan  (ISO)
trichostatin A  (EXP)
trimellitic anhydride  (ISO)
troglitazone  (ISO)
urethane  (EXP)
valproic acid  (EXP)
vinclozolin  (ISO)
zinc atom  (EXP)
zinc(0)  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytoplasm  (IDA,IEA)
cytosol  (IDA)
GID complex  (IBA)
mitochondrion  (IDA,IEA)
nucleoplasm  (IDA)
nucleus  (IDA,IEA)
ubiquitin ligase complex  (IDA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abducens palsy  (IAGP)
Abnormal Eustachian tube morphology  (IAGP)
Abnormal skeletal morphology  (IAGP)
Abnormality of the gingiva  (IAGP)
Absent cupid's bow  (IAGP)
Absent speech  (IAGP)
Amblyopia  (IAGP)
Anteverted nares  (IAGP)
Autistic behavior  (IAGP)
Autosomal dominant inheritance  (IAGP)
Bilateral tonic-clonic seizure  (IAGP)
Brain imaging abnormality  (IAGP)
Broad-based gait  (IAGP)
Cerebellar hypoplasia  (IAGP)
Cerebral hypomyelination  (IAGP)
Cleft palate  (IAGP)
Coarse facial features  (IAGP)
Constipation  (IAGP)
Delayed ability to sit  (IAGP)
Delayed ability to walk  (IAGP)
Delayed speech and language development  (IAGP)
Depressed nasal bridge  (IAGP)
Everted upper lip vermilion  (IAGP)
Failure to thrive  (IAGP)
Febrile seizure (within the age range of 3 months to 6 years)  (IAGP)
Feeding difficulties  (IAGP)
Feeding difficulties in infancy  (IAGP)
Full cheeks  (IAGP)
Gait ataxia  (IAGP)
Gastroesophageal reflux  (IAGP)
Gastrointestinal stroma tumor  (IAGP)
Gastrostomy tube feeding in infancy  (IAGP)
Generalized non-motor (absence) seizure  (IAGP)
Global developmental delay  (IAGP)
Happy demeanor  (IAGP)
Hip dysplasia  (IAGP)
Hypermetropia  (IAGP)
Hyperplasia of the maxilla  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hypotonia  (IAGP)
Increased axial length of the globe  (IAGP)
Infantile onset  (IAGP)
Intellectual disability  (IAGP)
Lower-limb joint contracture  (IAGP)
Marcus Gunn jaw winking synkinesis  (IAGP)
Metatarsus adductus  (IAGP)
Microcephaly  (IAGP)
Micrognathia  (IAGP)
Mild global developmental delay  (IAGP)
Motor stereotypy  (IAGP)
Myopia  (IAGP)
Osteopathia striata  (IAGP)
Pachygyria  (IAGP)
Parathyroid carcinoma  (IAGP)
Pes cavus  (IAGP)
Pineal cyst  (IAGP)
Prolonged QT interval  (IAGP)
Prominent nasal tip  (IAGP)
Recurrent otitis media  (IAGP)
Repetitive compulsive behavior  (IAGP)
Right aortic arch  (IAGP)
Seizure  (IAGP)
Severe global developmental delay  (IAGP)
Sparse lateral eyebrow  (IAGP)
Spastic gait  (IAGP)
Stereotypical body rocking  (IAGP)
Strabismus  (IAGP)
Thick upper lip vermilion  (IAGP)
Tracheomalacia  (IAGP)
Ventricular septal defect  (IAGP)
Ventriculomegaly  (IAGP)
Widely spaced teeth  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8125298   PMID:8889548   PMID:11282995   PMID:11483580   PMID:12477932   PMID:14702039   PMID:15146197   PMID:15378603   PMID:15489334   PMID:15722257   PMID:16196087   PMID:17041588  
PMID:17081983   PMID:17289546   PMID:17510365   PMID:17620599   PMID:17643931   PMID:17785286   PMID:18029348   PMID:18587224   PMID:18775313   PMID:19446606   PMID:19542561   PMID:19615732  
PMID:20171191   PMID:21042317   PMID:21139048   PMID:21183687   PMID:21320693   PMID:21873635   PMID:21890473   PMID:21900206   PMID:21906983   PMID:22065575   PMID:22863883   PMID:22939629  
PMID:22990118   PMID:23000965   PMID:23402259   PMID:23625927   PMID:23667531   PMID:23956138   PMID:24366813   PMID:25544563   PMID:25670202   PMID:25918994   PMID:25921289   PMID:26186194  
PMID:26344197   PMID:26496610   PMID:26895380   PMID:26972000   PMID:27098453   PMID:27173435   PMID:27432908   PMID:27609421   PMID:27637333   PMID:27835684   PMID:28514442   PMID:28675297  
PMID:28685749   PMID:28686853   PMID:28794006   PMID:29053956   PMID:29229926   PMID:29331416   PMID:29491746   PMID:29509190   PMID:29656893   PMID:29911972   PMID:30196744   PMID:30462309  
PMID:30471866   PMID:30773093   PMID:30833792   PMID:31010829   PMID:31021590   PMID:31059266   PMID:31091453   PMID:31285494   PMID:31340145   PMID:31753913   PMID:31980649   PMID:32030560  
PMID:32068487   PMID:32129710   PMID:32235678   PMID:32416067   PMID:32552912   PMID:32698014   PMID:32707033   PMID:32812023   PMID:32958140   PMID:33060197   PMID:33239621   PMID:33506510  
PMID:33675273   PMID:33905682   PMID:33961781   PMID:34055682   PMID:34315543   PMID:34383978   PMID:34647674   PMID:34709266   PMID:34709727   PMID:34728620   PMID:35032548   PMID:35256949  
PMID:35271311   PMID:35446349   PMID:35509820   PMID:35563538   PMID:35627197   PMID:35776542   PMID:35831314   PMID:35833506   PMID:35914814   PMID:35944360   PMID:36114006   PMID:36215168  
PMID:36736316   PMID:36931259   PMID:37689310   PMID:38113892  


Genomics

Comparative Map Data
WDR26
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381224,385,146 - 224,434,797 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1224,385,146 - 224,437,033 (-)EnsemblGRCh38hg38GRCh38
GRCh371224,572,848 - 224,622,499 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361222,639,815 - 222,688,335 (-)NCBINCBI36Build 36hg18NCBI36
Build 341220,879,927 - 220,928,447NCBI
Celera1197,763,775 - 197,812,936 (-)NCBICelera
Cytogenetic Map1q42.11-q42.12NCBI
HuRef1195,092,877 - 195,142,018 (-)NCBIHuRef
CHM1_11225,845,217 - 225,894,316 (-)NCBICHM1_1
T2T-CHM13v2.01223,573,956 - 223,623,646 (-)NCBIT2T-CHM13v2.0
Wdr26
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391181,000,791 - 181,046,211 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1181,000,793 - 181,039,566 (-)EnsemblGRCm39 Ensembl
GRCm381181,173,226 - 181,220,921 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1181,173,228 - 181,212,001 (-)EnsemblGRCm38mm10GRCm38
MGSCv371183,103,357 - 183,142,109 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361183,014,368 - 183,048,045 (-)NCBIMGSCv36mm8
Celera1188,240,133 - 188,279,705 (-)NCBICelera
Cytogenetic Map1H4NCBI
cM Map184.53NCBI
Wdr26
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81395,462,017 - 95,503,826 (-)NCBIGRCr8
mRatBN7.21392,930,282 - 92,972,061 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1392,930,285 - 92,977,295 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1395,435,602 - 95,477,016 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01396,835,504 - 96,876,919 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01394,011,130 - 94,052,465 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01399,493,117 - 99,532,775 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1399,493,120 - 99,531,959 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.013104,488,124 - 104,526,797 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41396,944,266 - 96,984,348 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1392,471,633 - 92,510,631 (-)NCBICelera
Cytogenetic Map13q26NCBI
Wdr26
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955520950,502 - 986,929 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955520950,505 - 983,963 (+)NCBIChiLan1.0ChiLan1.0
WDR26
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2125,093,026 - 25,142,497 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1125,043,748 - 25,093,175 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01199,853,860 - 199,903,474 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11204,861,784 - 204,911,148 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1204,861,784 - 204,914,538 (-)Ensemblpanpan1.1panPan2
WDR26
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1739,968,183 - 40,003,221 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl739,967,576 - 39,997,853 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha739,447,756 - 39,487,509 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0739,800,017 - 39,839,819 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl739,799,505 - 39,837,473 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1739,641,020 - 39,680,775 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0739,648,499 - 39,688,230 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0739,917,284 - 39,957,066 (+)NCBIUU_Cfam_GSD_1.0
Wdr26
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934453,273,000 - 53,317,076 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365261,434,653 - 1,474,314 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365261,429,972 - 1,474,296 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
WDR26
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1012,713,769 - 12,756,549 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11012,713,528 - 12,756,713 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21015,136,567 - 15,179,565 (-)NCBISscrofa10.2Sscrofa10.2susScr3
WDR26
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1255,339,056 - 5,393,173 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_0236660555,522,246 - 5,571,153 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Wdr26
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248356,005,173 - 6,041,915 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248356,000,566 - 6,041,917 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in WDR26
118 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001379403.1(WDR26):c.1198C>T (p.Arg400Cys) single nucleotide variant Skraban-Deardorff syndrome [RCV001507329] Chr1:224418381 [GRCh38]
Chr1:224606083 [GRCh37]
Chr1:1q42.12		 likely pathogenic
NM_001379403.1(WDR26):c.356del (p.Gly119fs) deletion not provided [RCV000521137] Chr1:224434050 [GRCh38]
Chr1:224621752 [GRCh37]
Chr1:1q42.12		 pathogenic
GRCh38/hg38 1q41-42.12(chr1:223882252-224902629)x1 copy number loss See cases [RCV000050819] Chr1:223882252..224902629 [GRCh38]
Chr1:224069954..225090331 [GRCh37]
Chr1:222136577..223156954 [NCBI36]
Chr1:1q41-42.12		 uncertain significance
GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3 copy number gain See cases [RCV000050981] Chr1:214023812..248918469 [GRCh38]
Chr1:214197155..249212668 [GRCh37]
Chr1:212263778..247179291 [NCBI36]
Chr1:1q32.3-44		 pathogenic
GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3 copy number gain See cases [RCV000050581] Chr1:223347693..248918469 [GRCh38]
Chr1:223521035..249212668 [GRCh37]
Chr1:221587658..247179291 [NCBI36]
Chr1:1q41-44		 pathogenic
GRCh38/hg38 1q41-44(chr1:221902539-248918469)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051875]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051875]|See cases [RCV000051875] Chr1:221902539..248918469 [GRCh38]
Chr1:222075881..249212668 [GRCh37]
Chr1:220142504..247179291 [NCBI36]
Chr1:1q41-44		 pathogenic
GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3 copy number gain See cases [RCV000051878] Chr1:223828500..248891309 [GRCh38]
Chr1:224016202..249185508 [GRCh37]
Chr1:222082825..247152131 [NCBI36]
Chr1:1q41-44		 pathogenic
GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3 copy number gain See cases [RCV000051880] Chr1:223887780..248891309 [GRCh38]
Chr1:224075482..249185508 [GRCh37]
Chr1:222142105..247152131 [NCBI36]
Chr1:1q41-44		 pathogenic
GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3 copy number gain See cases [RCV000051882] Chr1:224096488..248918469 [GRCh38]
Chr1:224284190..249212668 [GRCh37]
Chr1:222350813..247179291 [NCBI36]
Chr1:1q42.11-44		 pathogenic
GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3 copy number gain See cases [RCV000051861] Chr1:209646207..248931113 [GRCh38]
Chr1:209819552..249225312 [GRCh37]
Chr1:207886175..247191935 [NCBI36]
Chr1:1q32.2-44		 pathogenic
GRCh38/hg38 1q42.11-42.13(chr1:224096288-227859548)x1 copy number loss See cases [RCV000052311] Chr1:224096288..227859548 [GRCh38]
Chr1:224283990..228047249 [GRCh37]
Chr1:222350613..226113872 [NCBI36]
Chr1:1q42.11-42.13		 pathogenic
GRCh38/hg38 1q41-42.13(chr1:221519280-228862141)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053955]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053955]|See cases [RCV000053955] Chr1:221519280..228862141 [GRCh38]
Chr1:221692622..228997888 [GRCh37]
Chr1:219759245..227064511 [NCBI36]
Chr1:1q41-42.13		 pathogenic
NM_001379403.1(WDR26):c.1916G>A (p.Arg639Gln) single nucleotide variant Skraban-Deardorff syndrome [RCV001291662] Chr1:224398543 [GRCh38]
Chr1:224586245 [GRCh37]
Chr1:1q42.11		 uncertain significance
NM_001379403.1(WDR26):c.1036A>C (p.Asn346His) single nucleotide variant Skraban-Deardorff syndrome [RCV001332600] Chr1:224424546 [GRCh38]
Chr1:224612248 [GRCh37]
Chr1:1q42.12		 uncertain significance
GRCh38/hg38 1q41-42.12(chr1:223749425-224604271)x1 copy number loss See cases [RCV000135362] Chr1:223749425..224604271 [GRCh38]
Chr1:223937127..224791973 [GRCh37]
Chr1:222003750..222858596 [NCBI36]
Chr1:1q41-42.12		 uncertain significance
GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3 copy number gain See cases [RCV000134979] Chr1:209963625..248918469 [GRCh38]
Chr1:210136970..249212668 [GRCh37]
Chr1:208203593..247179291 [NCBI36]
Chr1:1q32.2-44		 pathogenic
GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3 copy number gain See cases [RCV000135839] Chr1:223815147..248918469 [GRCh38]
Chr1:224002849..249212668 [GRCh37]
Chr1:222069472..247179291 [NCBI36]
Chr1:1q41-44		 pathogenic
GRCh38/hg38 1q41-42.13(chr1:223347693-228556332)x1 copy number loss See cases [RCV000136636] Chr1:223347693..228556332 [GRCh38]
Chr1:223521035..228744033 [GRCh37]
Chr1:221587658..226810656 [NCBI36]
Chr1:1q41-42.13		 pathogenic
GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3 copy number gain See cases [RCV000137769] Chr1:224022862..248918469 [GRCh38]
Chr1:224210564..249212668 [GRCh37]
Chr1:222277187..247179291 [NCBI36]
Chr1:1q42.11-44		 pathogenic
GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3 copy number gain See cases [RCV000142054] Chr1:204764914..225408698 [GRCh38]
Chr1:204734042..225596400 [GRCh37]
Chr1:203000665..223663023 [NCBI36]
Chr1:1q32.1-42.12		 pathogenic
GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3 copy number gain See cases [RCV000143727] Chr1:207346642..248930485 [GRCh38]
Chr1:207519987..249224684 [GRCh37]
Chr1:205586610..247191307 [NCBI36]
Chr1:1q32.2-44		 pathogenic
GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3 copy number gain See cases [RCV000240137] Chr1:197811907..228997888 [GRCh37]
Chr1:1q31.3-42.13		 pathogenic
NM_001379403.1(WDR26):c.912G>T (p.Leu304Phe) single nucleotide variant Long QT syndrome [RCV000190124] Chr1:224431492 [GRCh38]
Chr1:224619194 [GRCh37]
Chr1:1q42.12		 likely benign|uncertain significance
NM_001379403.1(WDR26):c.359G>A (p.Gly120Glu) single nucleotide variant Long QT syndrome [RCV000190242] Chr1:224434047 [GRCh38]
Chr1:224621749 [GRCh37]
Chr1:1q42.12		 uncertain significance
GRCh37/hg19 1q42.11-42.12(chr1:224340881-225147932) copy number loss not provided [RCV000767548] Chr1:224340881..225147932 [GRCh37]
Chr1:1q42.11-42.12		 pathogenic
NM_001379403.1(WDR26):c.627del (p.Glu209fs) deletion not provided [RCV000599198] Chr1:224433779 [GRCh38]
Chr1:224621481 [GRCh37]
Chr1:1q42.12		 pathogenic
NM_001379403.1(WDR26):c.1916G>T (p.Arg639Leu) single nucleotide variant not provided [RCV002292755] Chr1:224398543 [GRCh38]
Chr1:224586245 [GRCh37]
Chr1:1q42.11		 uncertain significance
NM_001379403.1(WDR26):c.1870C>G (p.Gln624Glu) single nucleotide variant Inborn genetic diseases [RCV000622642] Chr1:224398589 [GRCh38]
Chr1:224586291 [GRCh37]
Chr1:1q42.11		 uncertain significance
NM_001379403.1(WDR26):c.566C>T (p.Ser189Leu) single nucleotide variant Inborn genetic diseases [RCV002535384]|not provided [RCV000734553] Chr1:224433840 [GRCh38]
Chr1:224621542 [GRCh37]
Chr1:1q42.12		 uncertain significance
GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3 copy number gain See cases [RCV000449172] Chr1:195483439..249213000 [GRCh37]
Chr1:1q31.3-44		 pathogenic
GRCh37/hg19 1q41-44(chr1:214697099-249224684)x3 copy number gain See cases [RCV000449210] Chr1:214697099..249224684 [GRCh37]
Chr1:1q41-44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_001379403.1(WDR26):c.1757del (p.Val586fs) deletion Skraban-Deardorff syndrome [RCV000498946] Chr1:224398997 [GRCh38]
Chr1:224586699 [GRCh37]
Chr1:1q42.11		 pathogenic
NM_001379403.1(WDR26):c.1062T>G (p.Ser354Arg) single nucleotide variant Skraban-Deardorff syndrome [RCV000497307] Chr1:224424520 [GRCh38]
Chr1:224612222 [GRCh37]
Chr1:1q42.12		 pathogenic
NM_001379403.1(WDR26):c.1576G>T (p.Glu526Ter) single nucleotide variant Skraban-Deardorff syndrome [RCV000497821] Chr1:224404453 [GRCh38]
Chr1:224592155 [GRCh37]
Chr1:1q42.12		 pathogenic
NM_001379403.1(WDR26):c.1204_1205del (p.Gln402fs) deletion Skraban-Deardorff syndrome [RCV000497929] Chr1:224418374..224418375 [GRCh38]
Chr1:224606076..224606077 [GRCh37]
Chr1:1q42.12		 pathogenic
NM_001379403.1(WDR26):c.1461_1462del (p.His489fs) deletion Skraban-Deardorff syndrome [RCV000498337] Chr1:224404567..224404568 [GRCh38]
Chr1:224592269..224592270 [GRCh37]
Chr1:1q42.12		 pathogenic
NM_001379403.1(WDR26):c.1150G>A (p.Asp384Asn) single nucleotide variant Skraban-Deardorff syndrome [RCV000498483] Chr1:224419530 [GRCh38]
Chr1:224607232 [GRCh37]
Chr1:1q42.12		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1q42.11-44(chr1:224105294-249224684)x3 copy number gain See cases [RCV000510981] Chr1:224105294..249224684 [GRCh37]
Chr1:1q42.11-44		 pathogenic
NM_001379403.1(WDR26):c.373_374insA (p.Gly125fs) insertion Intellectual disability, seizures, abnormal gait and distinctive facial features [RCV000578316] Chr1:224434032..224434033 [GRCh38]
Chr1:224621734..224621735 [GRCh37]
Chr1:1q42.12		 pathogenic
NM_001379403.1(WDR26):c.1537G>A (p.Asp513Asn) single nucleotide variant Skraban-Deardorff syndrome [RCV000515492] Chr1:224404492 [GRCh38]
Chr1:224592194 [GRCh37]
Chr1:1q42.12		 likely pathogenic
NM_001379403.1(WDR26):c.1525T>G (p.Trp509Gly) single nucleotide variant Skraban-Deardorff syndrome [RCV000515498] Chr1:224404504 [GRCh38]
Chr1:224592206 [GRCh37]
Chr1:1q42.12		 likely pathogenic
NM_001379403.1(WDR26):c.652A>C (p.Lys218Gln) single nucleotide variant Inborn genetic diseases [RCV003281866] Chr1:224433754 [GRCh38]
Chr1:224621456 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001379403.1(WDR26):c.2267G>T (p.Cys756Phe) single nucleotide variant Inborn genetic diseases [RCV000623249] Chr1:224389854 [GRCh38]
Chr1:224577556 [GRCh37]
Chr1:1q42.11		 uncertain significance
NM_001379403.1(WDR26):c.1925_1934del (p.Ala641_Leu642insTer) deletion Inborn genetic diseases [RCV000624089] Chr1:224398525..224398534 [GRCh38]
Chr1:224586227..224586236 [GRCh37]
Chr1:1q42.11		 pathogenic
NM_001379403.1(WDR26):c.1259del (p.Asn420fs) deletion not provided [RCV000657565] Chr1:224418320 [GRCh38]
Chr1:224606022 [GRCh37]
Chr1:1q42.12		 pathogenic
GRCh37/hg19 1q41-44(chr1:218252551-249224684)x3 copy number gain not provided [RCV000684700] Chr1:218252551..249224684 [GRCh37]
Chr1:1q41-44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_001379403.1(WDR26):c.180C>G (p.Ser60=) single nucleotide variant not provided [RCV001531662] Chr1:224434226 [GRCh38]
Chr1:224621928 [GRCh37]
Chr1:1q42.12		 likely benign
GRCh37/hg19 1q41-42.13(chr1:222641389-228137574)x1 copy number loss not provided [RCV001005178] Chr1:222641389..228137574 [GRCh37]
Chr1:1q41-42.13		 pathogenic
NM_001379403.1(WDR26):c.2109A>G (p.Glu703=) single nucleotide variant not provided [RCV000946560] Chr1:224393979 [GRCh38]
Chr1:224581681 [GRCh37]
Chr1:1q42.11		 benign
NM_001379403.1(WDR26):c.1635T>C (p.His545=) single nucleotide variant Skraban-Deardorff syndrome [RCV002495367]|not provided [RCV000887161] Chr1:224401034 [GRCh38]
Chr1:224588736 [GRCh37]
Chr1:1q42.12		 benign|likely benign
NM_001379403.1(WDR26):c.570C>T (p.Ala190=) single nucleotide variant not provided [RCV000954588] Chr1:224433836 [GRCh38]
Chr1:224621538 [GRCh37]
Chr1:1q42.12		 benign
NM_001379403.1(WDR26):c.1974_1975del (p.Arg658fs) microsatellite Skraban-Deardorff syndrome [RCV000986557] Chr1:224398196..224398197 [GRCh38]
Chr1:224585898..224585899 [GRCh37]
Chr1:1q42.11		 pathogenic|likely pathogenic
NM_001379403.1(WDR26):c.1544A>C (p.Tyr515Ser) single nucleotide variant not provided [RCV000994264] Chr1:224404485 [GRCh38]
Chr1:224592187 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001379403.1(WDR26):c.1136G>A (p.Arg379Gln) single nucleotide variant Skraban-Deardorff syndrome [RCV000850385] Chr1:224419544 [GRCh38]
Chr1:224607246 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001379403.1(WDR26):c.1694G>T (p.Gly565Val) single nucleotide variant Skraban-Deardorff syndrome [RCV000986558] Chr1:224400975 [GRCh38]
Chr1:224588677 [GRCh37]
Chr1:1q42.12		 likely pathogenic
GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3 copy number gain not provided [RCV000845852] Chr1:182388773..249111240 [GRCh37]
Chr1:1q25.3-44		 pathogenic
GRCh38/hg38 1q42.11-42.12(chr1:224304638-224434886)x1 copy number loss Skraban-Deardorff syndrome [RCV003327628] Chr1:224304638..224434886 [GRCh38]
Chr1:1q42.11-42.12		 pathogenic
GRCh37/hg19 1q42.11-42.12(chr1:224486843-225283297)x3 copy number gain not provided [RCV000845738] Chr1:224486843..225283297 [GRCh37]
Chr1:1q42.11-42.12		 uncertain significance
GRCh37/hg19 1q41-43(chr1:219916966-239004378)x3 copy number gain not provided [RCV001005175] Chr1:219916966..239004378 [GRCh37]
Chr1:1q41-43		 pathogenic
NM_001379403.1(WDR26):c.318AGG[5] (p.Gly125del) microsatellite Skraban-Deardorff syndrome [RCV003120364]|WDR26-related condition [RCV003973766]|not provided [RCV003420558] Chr1:224434071..224434073 [GRCh38]
Chr1:224621773..224621775 [GRCh37]
Chr1:1q42.12		 benign
NM_001379403.1(WDR26):c.722+18C>G single nucleotide variant Skraban-Deardorff syndrome [RCV002243402]|not provided [RCV001670741] Chr1:224433666 [GRCh38]
Chr1:224621368 [GRCh37]
Chr1:1q42.12		 benign
NM_001379403.1(WDR26):c.447C>T (p.Ser149=) single nucleotide variant not provided [RCV000974890] Chr1:224433959 [GRCh38]
Chr1:224621661 [GRCh37]
Chr1:1q42.12		 benign
NM_001379403.1(WDR26):c.823-10A>G single nucleotide variant Skraban-Deardorff syndrome [RCV003127711]|not provided [RCV001236892] Chr1:224431591 [GRCh38]
Chr1:224619293 [GRCh37]
Chr1:1q42.12		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001379403.1(WDR26):c.1317T>G (p.Ser439Arg) single nucleotide variant Skraban-Deardorff syndrome [RCV001198028] Chr1:224418262 [GRCh38]
Chr1:224605964 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001379403.1(WDR26):c.1111T>C (p.Trp371Arg) single nucleotide variant not provided [RCV003231673] Chr1:224419569 [GRCh38]
Chr1:224607271 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001379403.1(WDR26):c.1814C>T (p.Thr605Ile) single nucleotide variant not provided [RCV003231685] Chr1:224398940 [GRCh38]
Chr1:224586642 [GRCh37]
Chr1:1q42.11		 uncertain significance
NM_001379403.1(WDR26):c.562T>G (p.Ser188Ala) single nucleotide variant Inborn genetic diseases [RCV003276302] Chr1:224433844 [GRCh38]
Chr1:224621546 [GRCh37]
Chr1:1q42.12		 likely benign
NM_001379403.1(WDR26):c.598G>A (p.Ala200Thr) single nucleotide variant Inborn genetic diseases [RCV003276304] Chr1:224433808 [GRCh38]
Chr1:224621510 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001379403.1(WDR26):c.1376G>A (p.Trp459Ter) single nucleotide variant Skraban-Deardorff syndrome [RCV002465430] Chr1:224411509 [GRCh38]
Chr1:224599211 [GRCh37]
Chr1:1q42.12		 pathogenic
GRCh37/hg19 1q41-42.2(chr1:223653722-234591807)x1 copy number loss not provided [RCV001005180] Chr1:223653722..234591807 [GRCh37]
Chr1:1q41-42.2		 pathogenic
NM_001379403.1(WDR26):c.1323_1324delinsTT (p.Arg441_Gln442delinsSerTer) indel not provided [RCV001009141] Chr1:224411561..224411562 [GRCh38]
Chr1:224599263..224599264 [GRCh37]
Chr1:1q42.12		 pathogenic
NM_001379403.1(WDR26):c.1411G>C (p.Ala471Pro) single nucleotide variant Skraban-Deardorff syndrome [RCV001650486] Chr1:224411474 [GRCh38]
Chr1:224599176 [GRCh37]
Chr1:1q42.12		 likely pathogenic
NM_001379403.1(WDR26):c.454del (p.Asp152fs) deletion Skraban-Deardorff syndrome [RCV001027701] Chr1:224433952 [GRCh38]
Chr1:224621654 [GRCh37]
Chr1:1q42.12		 pathogenic
NM_001379403.1(WDR26):c.1196G>A (p.Arg399Gln) single nucleotide variant WDR26-related condition [RCV003396802]|not specified [RCV001192909] Chr1:224418383 [GRCh38]
Chr1:224606085 [GRCh37]
Chr1:1q42.12		 likely pathogenic|uncertain significance
NM_001379403.1(WDR26):c.1458+1G>A single nucleotide variant Skraban-Deardorff syndrome [RCV001196834] Chr1:224411426 [GRCh38]
Chr1:224599128 [GRCh37]
Chr1:1q42.12		 pathogenic
GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3 copy number gain See cases [RCV001194578] Chr1:210152794..249218992 [GRCh37]
Chr1:1q32.2-44		 pathogenic
NM_001379403.1(WDR26):c.1944+1G>C single nucleotide variant Intellectual disability [RCV001260841] Chr1:224398514 [GRCh38]
Chr1:224586216 [GRCh37]
Chr1:1q42.11		 pathogenic
NM_001379403.1(WDR26):c.509dup (p.Asn170fs) duplication Inborn genetic diseases [RCV001266109] Chr1:224433896..224433897 [GRCh38]
Chr1:224621598..224621599 [GRCh37]
Chr1:1q42.12		 pathogenic
NM_001379403.1(WDR26):c.1468C>G (p.Leu490Val) single nucleotide variant Skraban-Deardorff syndrome [RCV001262819] Chr1:224404561 [GRCh38]
Chr1:224592263 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001379403.1(WDR26):c.2094G>A (p.Trp698Ter) single nucleotide variant Inborn genetic diseases [RCV001267154] Chr1:224393994 [GRCh38]
Chr1:224581696 [GRCh37]
Chr1:1q42.11		 pathogenic
NM_001379403.1(WDR26):c.2204A>G (p.Asp735Gly) single nucleotide variant Skraban-Deardorff syndrome [RCV003224887]|not provided [RCV001267965] Chr1:224393884 [GRCh38]
Chr1:224581586 [GRCh37]
Chr1:1q42.11		 pathogenic|likely pathogenic
NM_001379403.1(WDR26):c.736CTC[1] (p.Leu247del) microsatellite not provided [RCV001310902] Chr1:224431763..224431765 [GRCh38]
Chr1:224619465..224619467 [GRCh37]
Chr1:1q42.12		 likely pathogenic
GRCh37/hg19 1q41-42.12(chr1:222605125-224696628)x1 copy number loss not provided [RCV001259110] Chr1:222605125..224696628 [GRCh37]
Chr1:1q41-42.12		 pathogenic
GRCh37/hg19 1q42.11-42.12(chr1:224442473-224794913)x1 copy number loss not provided [RCV001259111] Chr1:224442473..224794913 [GRCh37]
Chr1:1q42.11-42.12		 pathogenic
NM_001379403.1(WDR26):c.665del (p.Gln222fs) deletion not provided [RCV001268221] Chr1:224433741 [GRCh38]
Chr1:224621443 [GRCh37]
Chr1:1q42.12		 pathogenic
NM_001379403.1(WDR26):c.1910dup (p.Asn637fs) duplication not provided [RCV001268450] Chr1:224398548..224398549 [GRCh38]
Chr1:224586250..224586251 [GRCh37]
Chr1:1q42.11		 pathogenic
NM_001379403.1(WDR26):c.740_741del (p.Leu247fs) deletion not provided [RCV001268256] Chr1:224431763..224431764 [GRCh38]
Chr1:224619465..224619466 [GRCh37]
Chr1:1q42.12		 pathogenic
NM_001379403.1(WDR26):c.1812T>A (p.Asp604Glu) single nucleotide variant Inborn genetic diseases [RCV001266044] Chr1:224398942 [GRCh38]
Chr1:224586644 [GRCh37]
Chr1:1q42.11		 uncertain significance
NM_001379403.1(WDR26):c.494C>T (p.Ser165Phe) single nucleotide variant Seizure [RCV001281448]|not provided [RCV003416147] Chr1:224433912 [GRCh38]
Chr1:224621614 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001379403.1(WDR26):c.1829G>A (p.Arg610Gln) single nucleotide variant Skraban-Deardorff syndrome [RCV001263021] Chr1:224398925 [GRCh38]
Chr1:224586627 [GRCh37]
Chr1:1q42.11		 pathogenic|likely pathogenic
NM_001379403.1(WDR26):c.1796C>T (p.Thr599Ile) single nucleotide variant Seizure [RCV001281534] Chr1:224398958 [GRCh38]
Chr1:224586660 [GRCh37]
Chr1:1q42.11		 uncertain significance
NM_001379403.1(WDR26):c.1163-1G>A single nucleotide variant See cases [RCV001420298] Chr1:224418417 [GRCh38]
Chr1:224606119 [GRCh37]
Chr1:1q42.12		 likely pathogenic
NM_001379403.1(WDR26):c.1319+1G>A single nucleotide variant Skraban-Deardorff syndrome [RCV001336700] Chr1:224418259 [GRCh38]
Chr1:224605961 [GRCh37]
Chr1:1q42.12		 pathogenic
GRCh37/hg19 1q41-42.12(chr1:223552998-224761890) copy number loss Global developmental delay [RCV001291986] Chr1:223552998..224761890 [GRCh37]
Chr1:1q41-42.12		 pathogenic
NM_001379403.1(WDR26):c.1963T>G (p.Leu655Val) single nucleotide variant not provided [RCV001310901] Chr1:224398208 [GRCh38]
Chr1:224585910 [GRCh37]
Chr1:1q42.11		 uncertain significance
NM_001379403.1(WDR26):c.1045C>T (p.Arg349Cys) single nucleotide variant Skraban-Deardorff syndrome [RCV001332601] Chr1:224424537 [GRCh38]
Chr1:224612239 [GRCh37]
Chr1:1q42.12		 uncertain significance
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44		 uncertain significance
NM_001379403.1(WDR26):c.365del (p.Gly122fs) deletion Skraban-Deardorff syndrome [RCV002246815] Chr1:224434041 [GRCh38]
Chr1:224621743 [GRCh37]
Chr1:1q42.12		 pathogenic
NM_001379403.1(WDR26):c.1082A>G (p.His361Arg) single nucleotide variant Skraban-Deardorff syndrome [RCV002280298] Chr1:224419598 [GRCh38]
Chr1:224607300 [GRCh37]
Chr1:1q42.12		 likely pathogenic
NM_001379403.1(WDR26):c.773_776del (p.Pro258fs) deletion Skraban-Deardorff syndrome [RCV002246813] Chr1:224431728..224431731 [GRCh38]
Chr1:224619430..224619433 [GRCh37]
Chr1:1q42.12		 pathogenic
NM_001379403.1(WDR26):c.1025C>T (p.Pro342Leu) single nucleotide variant not provided [RCV003126326] Chr1:224424557 [GRCh38]
Chr1:224612259 [GRCh37]
Chr1:1q42.12		 likely pathogenic
NM_001379403.1(WDR26):c.1361A>G (p.His454Arg) single nucleotide variant not provided [RCV001764820] Chr1:224411524 [GRCh38]
Chr1:224599226 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001379403.1(WDR26):c.1113G>A (p.Trp371Ter) single nucleotide variant not provided [RCV003237608] Chr1:224419567 [GRCh38]
Chr1:224607269 [GRCh37]
Chr1:1q42.12		 pathogenic
NM_001379403.1(WDR26):c.1006C>G (p.Leu336Val) single nucleotide variant Skraban-Deardorff syndrome [RCV002272491]|not provided [RCV001771273] Chr1:224424576 [GRCh38]
Chr1:224612278 [GRCh37]
Chr1:1q42.12		 likely pathogenic|uncertain significance
NM_001379403.1(WDR26):c.390_412del (p.Leu132fs) deletion Skraban-Deardorff syndrome [RCV001785354] Chr1:224433994..224434016 [GRCh38]
Chr1:224621696..224621718 [GRCh37]
Chr1:1q42.12		 pathogenic
NM_001379403.1(WDR26):c.1642A>G (p.Ser548Gly) single nucleotide variant not provided [RCV001764063] Chr1:224401027 [GRCh38]
Chr1:224588729 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001379403.1(WDR26):c.1389C>G (p.Phe463Leu) single nucleotide variant not provided [RCV001772543] Chr1:224411496 [GRCh38]
Chr1:224599198 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001379403.1(WDR26):c.988C>G (p.Leu330Val) single nucleotide variant not provided [RCV001752129] Chr1:224424594 [GRCh38]
Chr1:224612296 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001379403.1(WDR26):c.857T>C (p.Val286Ala) single nucleotide variant not provided [RCV001765079] Chr1:224431547 [GRCh38]
Chr1:224619249 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001379403.1(WDR26):c.1556G>A (p.Cys519Tyr) single nucleotide variant Skraban-Deardorff syndrome [RCV001809246] Chr1:224404473 [GRCh38]
Chr1:224592175 [GRCh37]
Chr1:1q42.12		 likely pathogenic
NM_001379403.1(WDR26):c.2182A>G (p.Met728Val) single nucleotide variant not specified [RCV001815132] Chr1:224393906 [GRCh38]
Chr1:224581608 [GRCh37]
Chr1:1q42.11		 uncertain significance
NM_001379403.1(WDR26):c.1271A>G (p.Asp424Gly) single nucleotide variant not provided [RCV001816075] Chr1:224418308 [GRCh38]
Chr1:224606010 [GRCh37]
Chr1:1q42.12		 likely pathogenic
GRCh37/hg19 1q41-42.13(chr1:221303919-227461343) copy number gain not specified [RCV002052845] Chr1:221303919..227461343 [GRCh37]
Chr1:1q41-42.13		 pathogenic
NM_001379403.1(WDR26):c.450G>A (p.Ala150=) single nucleotide variant Developmental disorder [RCV001843793] Chr1:224433956 [GRCh38]
Chr1:224621658 [GRCh37]
Chr1:1q42.12		 likely benign
NM_001379403.1(WDR26):c.1945-30T>G single nucleotide variant Skraban-Deardorff syndrome [RCV002245231] Chr1:224398256 [GRCh38]
Chr1:224585958 [GRCh37]
Chr1:1q42.11		 benign
NM_001379403.1(WDR26):c.539T>C (p.Val180Ala) single nucleotide variant not provided [RCV002224850] Chr1:224433867 [GRCh38]
Chr1:224621569 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001379403.1(WDR26):c.1355C>T (p.Thr452Met) single nucleotide variant Skraban-Deardorff syndrome [RCV002227758] Chr1:224411530 [GRCh38]
Chr1:224599232 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001379403.1(WDR26):c.492dup (p.Ser165fs) duplication Skraban-Deardorff syndrome [RCV002246814] Chr1:224433913..224433914 [GRCh38]
Chr1:224621615..224621616 [GRCh37]
Chr1:1q42.12		 pathogenic
NM_001379403.1(WDR26):c.2249A>G (p.Gln750Arg) single nucleotide variant not specified [RCV003123528] Chr1:224393839 [GRCh38]
Chr1:224581541 [GRCh37]
Chr1:1q42.11		 uncertain significance
NM_001379403.1(WDR26):c.1822C>T (p.Arg608Ter) single nucleotide variant Skraban-Deardorff syndrome [RCV002227003] Chr1:224398932 [GRCh38]
Chr1:224586634 [GRCh37]
Chr1:1q42.11		 pathogenic
NM_001379403.1(WDR26):c.820A>G (p.Lys274Glu) single nucleotide variant not provided [RCV003154102] Chr1:224431684 [GRCh38]
Chr1:224619386 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001379403.1(WDR26):c.937T>G (p.Phe313Val) single nucleotide variant not provided [RCV002273414] Chr1:224424645 [GRCh38]
Chr1:224612347 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001379403.1(WDR26):c.-2C>T single nucleotide variant not provided [RCV002276355] Chr1:224434407 [GRCh38]
Chr1:224622109 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001379403.1(WDR26):c.1050T>G (p.Ile350Met) single nucleotide variant not provided [RCV002291953] Chr1:224424532 [GRCh38]
Chr1:224612234 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001379403.1(WDR26):c.604T>G (p.Ser202Ala) single nucleotide variant not provided [RCV002262265] Chr1:224433802 [GRCh38]
Chr1:224621504 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001379403.1(WDR26):c.1446G>A (p.Trp482Ter) single nucleotide variant Skraban-Deardorff syndrome [RCV002283951] Chr1:224411439 [GRCh38]
Chr1:224599141 [GRCh37]
Chr1:1q42.12		 likely pathogenic
NM_001379403.1(WDR26):c.1498del (p.His500fs) deletion Skraban-Deardorff syndrome [RCV002272629] Chr1:224404531 [GRCh38]
Chr1:224592233 [GRCh37]
Chr1:1q42.12		 pathogenic
GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3 copy number gain See cases [RCV002287837] Chr1:197867914..249224684 [GRCh37]
Chr1:1q31.3-44		 pathogenic
NM_001379403.1(WDR26):c.1630T>A (p.Ser544Thr) single nucleotide variant not provided [RCV003222654] Chr1:224401039 [GRCh38]
Chr1:224588741 [GRCh37]
Chr1:1q42.12		 likely benign|uncertain significance
GRCh37/hg19 1q42.11-42.12(chr1:224432682-225142704) copy number loss Chromosome 1q41-q42 deletion syndrome [RCV002280724] Chr1:224432682..225142704 [GRCh37]
Chr1:1q42.11-42.12		 pathogenic
NM_001379403.1(WDR26):c.834_838del (p.Asp278fs) deletion Skraban-Deardorff syndrome [RCV002294545] Chr1:224431566..224431570 [GRCh38]
Chr1:224619268..224619272 [GRCh37]
Chr1:1q42.12		 pathogenic
NM_001379403.1(WDR26):c.575T>C (p.Val192Ala) single nucleotide variant not provided [RCV002292756] Chr1:224433831 [GRCh38]
Chr1:224621533 [GRCh37]
Chr1:1q42.12		 likely benign
NM_001379403.1(WDR26):c.471T>G (p.Asn157Lys) single nucleotide variant Inborn genetic diseases [RCV003256936] Chr1:224433935 [GRCh38]
Chr1:224621637 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001379403.1(WDR26):c.389C>A (p.Pro130Gln) single nucleotide variant Inborn genetic diseases [RCV003302508] Chr1:224434017 [GRCh38]
Chr1:224621719 [GRCh37]
Chr1:1q42.12		 likely benign
GRCh37/hg19 1q41-42.12(chr1:221325488-225804228)x1 copy number loss not provided [RCV002474859] Chr1:221325488..225804228 [GRCh37]
Chr1:1q41-42.12		 uncertain significance
NM_001379403.1(WDR26):c.1673G>A (p.Gly558Glu) single nucleotide variant not provided [RCV003234488] Chr1:224400996 [GRCh38]
Chr1:224588698 [GRCh37]
Chr1:1q42.12		 uncertain significance
GRCh37/hg19 1q41-44(chr1:223972939-249224684)x3 copy number gain not provided [RCV002475745] Chr1:223972939..249224684 [GRCh37]
Chr1:1q41-44		 pathogenic
NM_001379403.1(WDR26):c.407C>G (p.Ser136Trp) single nucleotide variant not provided [RCV002511455] Chr1:224433999 [GRCh38]
Chr1:224621701 [GRCh37]
Chr1:1q42.12		 uncertain significance
GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2 copy number loss Orofacial cleft 2 [RCV002481175] Chr1:228006998..228061271 [GRCh38]
Chr1:1q32.2-42.13		 association
NM_001379403.1(WDR26):c.1600-3T>C single nucleotide variant not provided [RCV002511610] Chr1:224401072 [GRCh38]
Chr1:224588774 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001379403.1(WDR26):c.410C>T (p.Ala137Val) single nucleotide variant Inborn genetic diseases [RCV002837275] Chr1:224433996 [GRCh38]
Chr1:224621698 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001379403.1(WDR26):c.425C>G (p.Ser142Trp) single nucleotide variant Inborn genetic diseases [RCV002817260] Chr1:224433981 [GRCh38]
Chr1:224621683 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001379403.1(WDR26):c.1776G>A (p.Trp592Ter) single nucleotide variant Inborn genetic diseases [RCV002882504] Chr1:224398978 [GRCh38]
Chr1:224586680 [GRCh37]
Chr1:1q42.11		 pathogenic
NM_001379403.1(WDR26):c.1888A>T (p.Met630Leu) single nucleotide variant Inborn genetic diseases [RCV002841030] Chr1:224398571 [GRCh38]
Chr1:224586273 [GRCh37]
Chr1:1q42.11		 uncertain significance
NM_001379403.1(WDR26):c.311A>G (p.Asn104Ser) single nucleotide variant Inborn genetic diseases [RCV002991066] Chr1:224434095 [GRCh38]
Chr1:224621797 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001379403.1(WDR26):c.2026T>G (p.Ser676Ala) single nucleotide variant not provided [RCV003152110] Chr1:224398145 [GRCh38]
Chr1:224585847 [GRCh37]
Chr1:1q42.11		 uncertain significance
NM_001379403.1(WDR26):c.1458+3A>G single nucleotide variant Inborn genetic diseases [RCV002781714] Chr1:224411424 [GRCh38]
Chr1:224599126 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001379403.1(WDR26):c.559G>T (p.Ala187Ser) single nucleotide variant Inborn genetic diseases [RCV002868676] Chr1:224433847 [GRCh38]
Chr1:224621549 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001379403.1(WDR26):c.1193del (p.Pro398fs) deletion Inborn genetic diseases [RCV002707420] Chr1:224418386 [GRCh38]
Chr1:224606088 [GRCh37]
Chr1:1q42.12		 pathogenic
NM_001379403.1(WDR26):c.1544A>G (p.Tyr515Cys) single nucleotide variant Inborn genetic diseases [RCV002699025] Chr1:224404485 [GRCh38]
Chr1:224592187 [GRCh37]
Chr1:1q42.12		 likely benign
NM_001379403.1(WDR26):c.1457C>T (p.Pro486Leu) single nucleotide variant Inborn genetic diseases [RCV002697327]|not provided [RCV003456550] Chr1:224411428 [GRCh38]
Chr1:224599130 [GRCh37]
Chr1:1q42.12		 uncertain significance
GRCh37/hg19 1q42.11-43(chr1:224230307-243181599)x3 copy number gain not provided [RCV002509019] Chr1:224230307..243181599 [GRCh37]
Chr1:1q42.11-43		 not provided
NM_001379403.1(WDR26):c.1022C>T (p.Thr341Met) single nucleotide variant not provided [RCV002720274] Chr1:224424560 [GRCh38]
Chr1:224612262 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001379403.1(WDR26):c.1441A>G (p.Ile481Val) single nucleotide variant Inborn genetic diseases [RCV002808311] Chr1:224411444 [GRCh38]
Chr1:224599146 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001379403.1(WDR26):c.2059G>A (p.Ala687Thr) single nucleotide variant Inborn genetic diseases [RCV002718556] Chr1:224398112 [GRCh38]
Chr1:224585814 [GRCh37]
Chr1:1q42.11		 likely benign
NM_001379403.1(WDR26):c.1216C>T (p.Arg406Trp) single nucleotide variant not provided [RCV002584986] Chr1:224418363 [GRCh38]
Chr1:224606065 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001379403.1(WDR26):c.1073T>C (p.Met358Thr) single nucleotide variant Inborn genetic diseases [RCV002722734] Chr1:224419607 [GRCh38]
Chr1:224607309 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001379403.1(WDR26):c.586T>G (p.Ser196Ala) single nucleotide variant Inborn genetic diseases [RCV003255872] Chr1:224433820 [GRCh38]
Chr1:224621522 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001379403.1(WDR26):c.517A>G (p.Ser173Gly) single nucleotide variant not provided [RCV003227401] Chr1:224433889 [GRCh38]
Chr1:224621591 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001379403.1(WDR26):c.262C>T (p.His88Tyr) single nucleotide variant not provided [RCV003222655] Chr1:224434144 [GRCh38]
Chr1:224621846 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001379403.1(WDR26):c.460G>C (p.Ala154Pro) single nucleotide variant Skraban-Deardorff syndrome [RCV003139320]|not provided [RCV003481454] Chr1:224433946 [GRCh38]
Chr1:224621648 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001379403.1(WDR26):c.1510G>A (p.Val504Ile) single nucleotide variant Skraban-Deardorff syndrome [RCV003139321] Chr1:224404519 [GRCh38]
Chr1:224592221 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001379403.1(WDR26):c.1881dup (p.Pro628fs) duplication Skraban-Deardorff syndrome [RCV003140437] Chr1:224398577..224398578 [GRCh38]
Chr1:224586279..224586280 [GRCh37]
Chr1:1q42.11		 likely pathogenic
NM_001379403.1(WDR26):c.1669G>C (p.Asp557His) single nucleotide variant Inborn genetic diseases [RCV003219893] Chr1:224401000 [GRCh38]
Chr1:224588702 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001379403.1(WDR26):c.1540_1569del (p.Asn514_Asp523del) deletion not provided [RCV003318937] Chr1:224404460..224404489 [GRCh38]
Chr1:224592162..224592191 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001379403.1(WDR26):c.1702G>A (p.Gly568Arg) single nucleotide variant Skraban-Deardorff syndrome [RCV003334431] Chr1:224400967 [GRCh38]
Chr1:224588669 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001379403.1(WDR26):c.523A>G (p.Asn175Asp) single nucleotide variant not specified [RCV003404867] Chr1:224433883 [GRCh38]
Chr1:224621585 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001379403.1(WDR26):c.1163-14A>G single nucleotide variant not specified [RCV003479607] Chr1:224418430 [GRCh38]
Chr1:224606132 [GRCh37]
Chr1:1q42.12		 likely benign
NM_001379403.1(WDR26):c.1204C>T (p.Gln402Ter) single nucleotide variant WDR26-related condition [RCV003402780] Chr1:224418375 [GRCh38]
Chr1:224606077 [GRCh37]
Chr1:1q42.12		 pathogenic
NM_001379403.1(WDR26):c.1586T>C (p.Leu529Pro) single nucleotide variant not provided [RCV003443858] Chr1:224404443 [GRCh38]
Chr1:224592145 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001322304.2(CNIH3):c.-129C>G single nucleotide variant not provided [RCV002511611] Chr1:224435176 [GRCh38]
Chr1:224622878 [GRCh37]
Chr1:1q42.12		 benign
NM_001322303.2(CNIH3):c.99+19102T>C single nucleotide variant not provided [RCV003414810] Chr1:224454289 [GRCh38]
Chr1:224641991 [GRCh37]
Chr1:1q42.12		 benign
NM_001379403.1(WDR26):c.428C>T (p.Ser143Phe) single nucleotide variant WDR26-related condition [RCV003394489] Chr1:224433978 [GRCh38]
Chr1:224621680 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001379403.1(WDR26):c.1835A>G (p.Tyr612Cys) single nucleotide variant not provided [RCV003443684] Chr1:224398919 [GRCh38]
Chr1:224586621 [GRCh37]
Chr1:1q42.11		 uncertain significance
NM_001379403.1(WDR26):c.2129C>T (p.Thr710Ile) single nucleotide variant WDR26-related condition [RCV003399848] Chr1:224393959 [GRCh38]
Chr1:224581661 [GRCh37]
Chr1:1q42.11		 uncertain significance
NM_001379403.1(WDR26):c.2246_2249delinsTTTGTATAATGTT (p.His749_Gln750delinsLeuCysIleMetLeu) indel WDR26-related condition [RCV003397544] Chr1:224393839..224393842 [GRCh38]
Chr1:224581541..224581544 [GRCh37]
Chr1:1q42.11		 uncertain significance
NM_001379403.1(WDR26):c.351_353dup (p.Gly125_Gln126insGly) duplication WDR26-related condition [RCV003405809] Chr1:224434052..224434053 [GRCh38]
Chr1:224621754..224621755 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001379403.1(WDR26):c.178TCC[6] (p.Ser66_Ser67del) microsatellite not provided [RCV003414807] Chr1:224434205..224434210 [GRCh38]
Chr1:224621907..224621912 [GRCh37]
Chr1:1q42.12		 benign
GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3 copy number gain See cases [RCV001007407] Chr1:204045948..249218992 [GRCh37]
Chr1:1q32.1-44		 pathogenic
NM_001379403.1(WDR26):c.1443A>G (p.Ile481Met) single nucleotide variant not provided [RCV003154535] Chr1:224411442 [GRCh38]
Chr1:224599144 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001379403.1(WDR26):c.603C>T (p.Ala201=) single nucleotide variant not provided [RCV003414802] Chr1:224433803 [GRCh38]
Chr1:224621505 [GRCh37]
Chr1:1q42.12		 benign
NM_001379403.1(WDR26):c.513C>T (p.Ser171=) single nucleotide variant not provided [RCV003414803] Chr1:224433893 [GRCh38]
Chr1:224621595 [GRCh37]
Chr1:1q42.12		 likely benign
NM_001379403.1(WDR26):c.339CGG[5] (p.Gly125_Gln126insGly) microsatellite not provided [RCV003414804] Chr1:224434055..224434056 [GRCh38]
Chr1:224621757..224621758 [GRCh37]
Chr1:1q42.12		 likely benign
NM_001379403.1(WDR26):c.178TCC[10] (p.Ser67_Val68insSerSer) microsatellite not provided [RCV003414805] Chr1:224434204..224434205 [GRCh38]
Chr1:224621906..224621907 [GRCh37]
Chr1:1q42.12		 likely benign
NM_001379403.1(WDR26):c.178TCC[11] (p.Ser67_Val68insSerSerSer) microsatellite not provided [RCV003414806] Chr1:224434204..224434205 [GRCh38]
Chr1:224621906..224621907 [GRCh37]
Chr1:1q42.12		 likely benign
NM_001379403.1(WDR26):c.140G>A (p.Gly47Asp) single nucleotide variant not provided [RCV003414808] Chr1:224434266 [GRCh38]
Chr1:224621968 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001379403.1(WDR26):c.54G>A (p.Ser18=) single nucleotide variant not provided [RCV003414809] Chr1:224434352 [GRCh38]
Chr1:224622054 [GRCh37]
Chr1:1q42.12		 likely benign
NM_001379403.1(WDR26):c.2063G>A (p.Ser688Asn) single nucleotide variant not specified [RCV003388405] Chr1:224398108 [GRCh38]
Chr1:224585810 [GRCh37]
Chr1:1q42.11		 uncertain significance
NM_001379403.1(WDR26):c.465C>A (p.His155Gln) single nucleotide variant not provided [RCV003567424] Chr1:224433941 [GRCh38]
Chr1:224621643 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001379403.1(WDR26):c.387C>T (p.Thr129=) single nucleotide variant WDR26-related condition [RCV003894204] Chr1:224434019 [GRCh38]
Chr1:224621721 [GRCh37]
Chr1:1q42.12		 likely benign
NM_001379403.1(WDR26):c.463C>T (p.His155Tyr) single nucleotide variant Skraban-Deardorff syndrome [RCV003989389] Chr1:224433943 [GRCh38]
Chr1:224621645 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001379403.1(WDR26):c.1039dup (p.Thr347fs) duplication Skraban-Deardorff syndrome [RCV003985186] Chr1:224424542..224424543 [GRCh38]
Chr1:224612244..224612245 [GRCh37]
Chr1:1q42.12		 pathogenic
NM_001379403.1(WDR26):c.647del (p.Lys216fs) deletion Skraban-Deardorff syndrome [RCV003990079] Chr1:224433759 [GRCh38]
Chr1:224621461 [GRCh37]
Chr1:1q42.12		 uncertain significance
GRCh37/hg19 1q41-42.12(chr1:216147522-226765691)x1 copy number loss not provided [RCV004442774] Chr1:216147522..226765691 [GRCh37]
Chr1:1q41-42.12		 pathogenic
NM_001379403.1(WDR26):c.1354dup (p.Thr452fs) duplication not provided [RCV003887602] Chr1:224411530..224411531 [GRCh38]
Chr1:224599232..224599233 [GRCh37]
Chr1:1q42.12		 pathogenic
NM_001379403.1(WDR26):c.1338T>C (p.Tyr446=) single nucleotide variant WDR26-related condition [RCV003893966] Chr1:224411547 [GRCh38]
Chr1:224599249 [GRCh37]
Chr1:1q42.12		 likely benign
NM_001379403.1(WDR26):c.647_655del (p.Lys216_Lys218del) deletion Skraban-Deardorff syndrome [RCV003989058] Chr1:224433751..224433759 [GRCh38]
Chr1:224621453..224621461 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001379403.1(WDR26):c.128G>A (p.Gly43Glu) single nucleotide variant not provided [RCV003884256] Chr1:224434278 [GRCh38]
Chr1:224621980 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001379403.1(WDR26):c.1784G>A (p.Ser595Asn) single nucleotide variant WDR26-related condition [RCV003976890] Chr1:224398970 [GRCh38]
Chr1:224586672 [GRCh37]
Chr1:1q42.11		 uncertain significance
NM_001379403.1(WDR26):c.318AGG[9] (p.Gly125_Gln126insGlyGlyGly) microsatellite Skraban-Deardorff syndrome [RCV003990567] Chr1:224434070..224434071 [GRCh38]
Chr1:224621772..224621773 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001379403.1(WDR26):c.1488A>G (p.Thr496=) single nucleotide variant WDR26-related condition [RCV003949514] Chr1:224404541 [GRCh38]
Chr1:224592243 [GRCh37]
Chr1:1q42.12		 likely benign
NM_001379403.1(WDR26):c.2235T>C (p.Pro745=) single nucleotide variant WDR26-related condition [RCV003974717] Chr1:224393853 [GRCh38]
Chr1:224581555 [GRCh37]
Chr1:1q42.11		 likely benign
Single allele complex Skraban-Deardorff syndrome [RCV003992105] Chr1:224317411..224403138 [GRCh38]
Chr1:1q42.11-42.12		 pathogenic
NM_001379403.1(WDR26):c.1559G>T (p.Gly520Val) single nucleotide variant Inborn genetic diseases [RCV004478273] Chr1:224404470 [GRCh38]
Chr1:224592172 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001379403.1(WDR26):c.1849del (p.Thr618fs) deletion Inborn genetic diseases [RCV004478274] Chr1:224398905 [GRCh38]
Chr1:224586607 [GRCh37]
Chr1:1q42.11		 pathogenic
NM_001379403.1(WDR26):c.482C>T (p.Pro161Leu) single nucleotide variant Inborn genetic diseases [RCV004478275] Chr1:224433924 [GRCh38]
Chr1:224621626 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001379403.1(WDR26):c.655C>T (p.Arg219Trp) single nucleotide variant Inborn genetic diseases [RCV004478276] Chr1:224433751 [GRCh38]
Chr1:224621453 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001379403.1(WDR26):c.336_338del (p.Gly125del) deletion Inborn genetic diseases [RCV004478277] Chr1:224434068..224434070 [GRCh38]
Chr1:224621770..224621772 [GRCh37]
Chr1:1q42.12		 likely benign
NM_001379403.1(WDR26):c.347G>A (p.Gly116Asp) single nucleotide variant Inborn genetic diseases [RCV004478278] Chr1:224434059 [GRCh38]
Chr1:224621761 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001379403.1(WDR26):c.1244G>A (p.Arg415Gln) single nucleotide variant Inborn genetic diseases [RCV004478279] Chr1:224418335 [GRCh38]
Chr1:224606037 [GRCh37]
Chr1:1q42.12		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:6718
Count of miRNA genes:1235
Interacting mature miRNAs:1580
Transcripts:ENST00000295024, ENST00000366852, ENST00000414423, ENST00000443112, ENST00000445239, ENST00000477425, ENST00000479727, ENST00000479778, ENST00000480676, ENST00000486652, ENST00000489825
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
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
SHGC-76417  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371224,605,745 - 224,605,865UniSTSGRCh37
Build 361222,672,368 - 222,672,488RGDNCBI36
Celera1197,796,676 - 197,796,796RGD
Cytogenetic Map1q42.13UniSTS
HuRef1195,125,755 - 195,125,875UniSTS
TNG Radiation Hybrid Map1111817.0UniSTS
GeneMap99-GB4 RH Map1715.41UniSTS
RH99062  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371224,575,739 - 224,575,891UniSTSGRCh37
Build 361222,642,362 - 222,642,514RGDNCBI36
Celera1197,766,669 - 197,766,821RGD
Cytogenetic Map1q42.13UniSTS
HuRef1195,095,771 - 195,095,924UniSTS
GeneMap99-GB4 RH Map1715.41UniSTS
SHGC-111798  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371224,584,563 - 224,584,787UniSTSGRCh37
Build 361222,651,186 - 222,651,410RGDNCBI36
Celera1197,775,493 - 197,775,709RGD
Cytogenetic Map1q42.13UniSTS
HuRef1195,104,593 - 195,104,807UniSTS
TNG Radiation Hybrid Map1111801.0UniSTS
SHGC-76410  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371224,572,966 - 224,573,108UniSTSGRCh37
Build 361222,639,589 - 222,639,731RGDNCBI36
Celera1197,763,896 - 197,764,038RGD
Cytogenetic Map1q42.13UniSTS
HuRef1195,092,998 - 195,093,140UniSTS
TNG Radiation Hybrid Map1111776.0UniSTS
GeneMap99-GB4 RH Map1715.41UniSTS
AL009443  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371224,574,414 - 224,574,547UniSTSGRCh37
Build 361222,641,037 - 222,641,170RGDNCBI36
Celera1197,765,344 - 197,765,477RGD
Cytogenetic Map1q42.13UniSTS
HuRef1195,094,446 - 195,094,579UniSTS
SHGC-32811  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371224,573,176 - 224,573,300UniSTSGRCh37
Build 361222,639,799 - 222,639,923RGDNCBI36
Celera1197,764,106 - 197,764,230RGD
Cytogenetic Map1q42.13UniSTS
HuRef1195,093,208 - 195,093,332UniSTS
TNG Radiation Hybrid Map1111170.0UniSTS
GeneMap99-GB4 RH Map1713.95UniSTS
GeneMap99-GB4 RH Map1715.07UniSTS
Whitehead-RH Map1887.1UniSTS
NCBI RH Map12071.8UniSTS
GeneMap99-G3 RH Map18800.0UniSTS
SHGC-76418  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371224,599,539 - 224,599,726UniSTSGRCh37
Build 361222,666,162 - 222,666,349RGDNCBI36
Celera1197,790,472 - 197,790,659RGD
Cytogenetic Map1q42.13UniSTS
HuRef1195,119,550 - 195,119,737UniSTS
TNG Radiation Hybrid Map1111822.0UniSTS
GeneMap99-GB4 RH Map1715.41UniSTS
SHGC-56807  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371224,607,006 - 224,607,279UniSTSGRCh37
Build 361222,673,629 - 222,673,902RGDNCBI36
Celera1197,797,937 - 197,798,210RGD
Cytogenetic Map1q42.13UniSTS
HuRef1195,127,016 - 195,127,289UniSTS
TNG Radiation Hybrid Map1111817.0UniSTS
SGC32093  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371224,572,861 - 224,572,972UniSTSGRCh37
Build 361222,639,484 - 222,639,595RGDNCBI36
Celera1197,763,791 - 197,763,902RGD
Cytogenetic Map1q42.13UniSTS
HuRef1195,092,893 - 195,093,004UniSTS
GeneMap99-GB4 RH Map1713.95UniSTS
GeneMap99-GB4 RH Map1715.38UniSTS
Whitehead-RH Map1897.6UniSTS
G35510  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1q21UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map2p25-p24UniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map4q21.3UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map1p35UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map6pter-q22.33UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map11q14.2-q21UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map3q28UniSTS
Cytogenetic Map9p21.3UniSTS
Cytogenetic Map7p15.1UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map5q31-q32UniSTS
Cytogenetic Map18p11.2UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map12p13.33UniSTS
Cytogenetic Map18p11.22-p11.21UniSTS
Cytogenetic Map5q34-q35UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map11q13.3UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map12q13.1-q13.2UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic MapXp22.32UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map1q23.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map6pter-p12.1UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map17pUniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map20q13.33UniSTS


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 adipose tissue appendage entire extraembryonic component
High
Medium 2421 2782 1675 580 1922 422 4354 2044 3185 371 1442 1605 171 1203 2787 4
Low 11 202 48 42 26 42 1 149 523 47 6 3 1 1
Below cutoff 1 4 1 5 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_047198 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001115113 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001379403 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_025160 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209887 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB586698 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC099790 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF130049 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK023023 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK024669 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK027236 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299230 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307909 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY221751 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY304473 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC031471 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC034498 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC041978 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC052301 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC063817 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF509638 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG744504 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU673957 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CF786114 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN283908 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CT002105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF011612 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000414423   ⟹   ENSP00000408108
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1224,385,146 - 224,434,797 (-)Ensembl
RefSeq Acc Id: ENST00000443112
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1224,389,148 - 224,434,013 (-)Ensembl
RefSeq Acc Id: ENST00000445239   ⟹   ENSP00000403597
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1224,419,562 - 224,437,033 (-)Ensembl
RefSeq Acc Id: ENST00000477425
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1224,419,549 - 224,433,838 (-)Ensembl
RefSeq Acc Id: ENST00000479727
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1224,397,727 - 224,401,019 (-)Ensembl
RefSeq Acc Id: ENST00000479778
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1224,429,297 - 224,433,850 (-)Ensembl
RefSeq Acc Id: ENST00000480676   ⟹   ENSP00000424784
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1224,385,666 - 224,411,484 (-)Ensembl
RefSeq Acc Id: ENST00000486652   ⟹   ENSP00000422758
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1224,389,136 - 224,434,081 (-)Ensembl
RefSeq Acc Id: ENST00000489825
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1224,419,445 - 224,433,856 (-)Ensembl
RefSeq Acc Id: ENST00000651911   ⟹   ENSP00000498603
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1224,385,161 - 224,433,995 (-)Ensembl
RefSeq Acc Id: ENST00000678307   ⟹   ENSP00000503416
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1224,433,096 - 224,434,797 (-)Ensembl
RefSeq Acc Id: ENST00000678555   ⟹   ENSP00000504302
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1224,389,184 - 224,434,797 (-)Ensembl
RefSeq Acc Id: ENST00000678879   ⟹   ENSP00000503936
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1224,385,184 - 224,433,888 (-)Ensembl
RefSeq Acc Id: ENST00000678917   ⟹   ENSP00000504428
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1224,385,146 - 224,434,797 (-)Ensembl
RefSeq Acc Id: ENST00000704632   ⟹   ENSP00000515968
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1224,389,254 - 224,433,871 (-)Ensembl
RefSeq Acc Id: ENST00000704640   ⟹   ENSP00000515971
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1224,389,150 - 224,433,737 (-)Ensembl
RefSeq Acc Id: NM_001115113   ⟹   NP_001108585
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381224,385,146 - 224,434,797 (-)NCBI
GRCh371224,572,845 - 224,622,001 (-)RGD
Celera1197,763,775 - 197,812,936 (-)RGD
HuRef1195,092,877 - 195,142,018 (-)ENTREZGENE
CHM1_11225,845,217 - 225,894,316 (-)NCBI
T2T-CHM13v2.01223,573,956 - 223,623,646 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001379403   ⟹   NP_001366332
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381224,385,146 - 224,434,797 (-)NCBI
T2T-CHM13v2.01223,573,956 - 223,623,646 (-)NCBI
Sequence:
RefSeq Acc Id: NM_025160   ⟹   NP_079436
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381224,385,146 - 224,434,797 (-)NCBI
GRCh371224,572,845 - 224,622,001 (-)RGD
Build 361222,639,815 - 222,688,335 (-)NCBI Archive
Celera1197,763,775 - 197,812,936 (-)RGD
HuRef1195,092,877 - 195,142,018 (-)ENTREZGENE
CHM1_11225,845,217 - 225,894,316 (-)NCBI
T2T-CHM13v2.01223,573,956 - 223,623,646 (-)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_079436   ⟸   NM_025160
- Peptide Label: isoform a
- UniProtKB: Q86UY4 (UniProtKB/Swiss-Prot),   Q5GLZ9 (UniProtKB/Swiss-Prot),   Q59EC4 (UniProtKB/Swiss-Prot),   Q4G100 (UniProtKB/Swiss-Prot),   A0MNN3 (UniProtKB/Swiss-Prot),   Q9H3C2 (UniProtKB/Swiss-Prot),   Q9H7D7 (UniProtKB/Swiss-Prot),   A0A7P0SXD0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001108585   ⟸   NM_001115113
- Peptide Label: isoform b
- UniProtKB: A0A7P0SXD0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001366332   ⟸   NM_001379403
- Peptide Label: isoform c
- UniProtKB: A0A499FIZ0 (UniProtKB/TrEMBL),   A0A7I2YQQ9 (UniProtKB/TrEMBL)
RefSeq Acc Id: ENSP00000408108   ⟸   ENST00000414423
RefSeq Acc Id: ENSP00000498603   ⟸   ENST00000651911
RefSeq Acc Id: ENSP00000424784   ⟸   ENST00000480676
RefSeq Acc Id: ENSP00000403597   ⟸   ENST00000445239
RefSeq Acc Id: ENSP00000422758   ⟸   ENST00000486652
RefSeq Acc Id: ENSP00000503416   ⟸   ENST00000678307
RefSeq Acc Id: ENSP00000503936   ⟸   ENST00000678879
RefSeq Acc Id: ENSP00000504302   ⟸   ENST00000678555
RefSeq Acc Id: ENSP00000504428   ⟸   ENST00000678917
RefSeq Acc Id: ENSP00000515971   ⟸   ENST00000704640
RefSeq Acc Id: ENSP00000515968   ⟸   ENST00000704632
Protein Domains
CTLH   LisH

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9H7D7-F1-model_v2 AlphaFold Q9H7D7 1-661 view protein structure

Promoters
RGD ID:6809760
Promoter ID:HG_ACW:6004
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:WDR26.LAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 361222,686,716 - 222,687,216 (-)MPROMDB
RGD ID:6786098
Promoter ID:HG_KWN:7535
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001115113,   NM_025160,   OTTHUMT00000091763,   OTTHUMT00000091764,   OTTHUMT00000091765,   OTTHUMT00000091768,   OTTHUMT00000092004,   OTTHUMT00000092005,   UC001HOR.1,   UC009XEH.1,   UC009XEI.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361222,687,151 - 222,689,237 (-)MPROMDB
RGD ID:6859094
Promoter ID:EPDNEW_H2711
Type:initiation region
Name:WDR26_1
Description:WD repeat domain 26
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2713  EPDNEW_H2712  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381224,434,032 - 224,434,092EPDNEW
RGD ID:6859132
Promoter ID:EPDNEW_H2712
Type:initiation region
Name:WDR26_2
Description:WD repeat domain 26
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2711  EPDNEW_H2713  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381224,434,292 - 224,434,352EPDNEW
RGD ID:6859096
Promoter ID:EPDNEW_H2713
Type:initiation region
Name:WDR26_3
Description:WD repeat domain 26
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2711  EPDNEW_H2712  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381224,437,033 - 224,437,093EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:21208 AgrOrtholog
COSMIC WDR26 COSMIC
Ensembl Genes ENSG00000162923 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000414423 ENTREZGENE
  ENST00000414423.9 UniProtKB/TrEMBL
  ENST00000445239.1 UniProtKB/TrEMBL
  ENST00000480676.2 UniProtKB/TrEMBL
  ENST00000486652.5 UniProtKB/TrEMBL
  ENST00000651911 ENTREZGENE
  ENST00000651911.2 UniProtKB/TrEMBL
  ENST00000678307.1 UniProtKB/TrEMBL
  ENST00000678555.1 UniProtKB/TrEMBL
  ENST00000678879.1 UniProtKB/TrEMBL
  ENST00000678917 ENTREZGENE
  ENST00000678917.1 UniProtKB/Swiss-Prot
  ENST00000704632.1 UniProtKB/TrEMBL
  ENST00000704640.1 UniProtKB/TrEMBL
Gene3D-CATH 2.130.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000162923 GTEx
HGNC ID HGNC:21208 ENTREZGENE
Human Proteome Map WDR26 Human Proteome Map
InterPro CTLH_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  G-protein_beta_WD-40_rep UniProtKB/TrEMBL
  LisH 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:80232 UniProtKB/Swiss-Prot
NCBI Gene 80232 ENTREZGENE
OMIM 617424 OMIM
PANTHER WD REPEAT PROTEIN 26-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD REPEAT-CONTAINING PROTEIN 26 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam LisH_TPL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134907873 PharmGKB
PRINTS GPROTEINBRPT UniProtKB/TrEMBL
PROSITE CTLH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LISH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD_REPEATS_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD_REPEATS_REGION UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART CTLH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF50978 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A499FIZ0 ENTREZGENE, UniProtKB/TrEMBL
  A0A7I2V3I7_HUMAN UniProtKB/TrEMBL
  A0A7I2YQL3_HUMAN UniProtKB/TrEMBL
  A0A7I2YQQ9 ENTREZGENE, UniProtKB/TrEMBL
  A0A7P0SXD0 ENTREZGENE, UniProtKB/TrEMBL
  A0A994J579_HUMAN UniProtKB/TrEMBL
  A0A994J7J9_HUMAN UniProtKB/TrEMBL
  A0MNN3 ENTREZGENE
  C9JCS7_HUMAN UniProtKB/TrEMBL
  H0Y917_HUMAN UniProtKB/TrEMBL
  H0Y9R3_HUMAN UniProtKB/TrEMBL
  L8EAE8_HUMAN UniProtKB/TrEMBL
  Q4G100 ENTREZGENE
  Q59EC4 ENTREZGENE
  Q5GLZ9 ENTREZGENE
  Q86UY4 ENTREZGENE
  Q9H3C2 ENTREZGENE
  Q9H7D7 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A0MNN3 UniProtKB/Swiss-Prot
  Q4G100 UniProtKB/Swiss-Prot
  Q59EC4 UniProtKB/Swiss-Prot
  Q5GLZ9 UniProtKB/Swiss-Prot
  Q86UY4 UniProtKB/Swiss-Prot
  Q9H3C2 UniProtKB/Swiss-Prot