WDR27 (WD repeat domain 27) - Rat Genome Database

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Gene: WDR27 (WD repeat domain 27) Homo sapiens
Analyze
Symbol: WDR27
Name: WD repeat domain 27
RGD ID: 1351994
HGNC Page HGNC:21248
Description: Located in nucleoplasm.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: MGC43690; WD repeat-containing protein 27
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
GRCh386169,426,420 - 169,702,029 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl6169,457,212 - 169,702,067 (-)EnsemblGRCh38hg38GRCh38
GRCh376169,857,307 - 170,102,125 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 366169,599,232 - 169,844,084 (-)NCBINCBI36Build 36hg18NCBI36
Celera6170,567,481 - 170,812,344 (-)NCBICelera
Cytogenetic Map6q27NCBI
HuRef6167,278,708 - 167,521,934 (-)NCBIHuRef
CHM1_16170,119,555 - 170,364,373 (-)NCBICHM1_1
T2T-CHM13v2.06170,780,064 - 171,055,943 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
nucleoplasm  (IDA)

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:16344560   PMID:18925368   PMID:19913121   PMID:20041166   PMID:20379614   PMID:20451393   PMID:20628086   PMID:21980299   PMID:22658674   PMID:25416956   PMID:26760575  
PMID:28611215   PMID:31586073   PMID:33961781   PMID:34732716  


Genomics

Comparative Map Data
WDR27
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh386169,426,420 - 169,702,029 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl6169,457,212 - 169,702,067 (-)EnsemblGRCh38hg38GRCh38
GRCh376169,857,307 - 170,102,125 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 366169,599,232 - 169,844,084 (-)NCBINCBI36Build 36hg18NCBI36
Celera6170,567,481 - 170,812,344 (-)NCBICelera
Cytogenetic Map6q27NCBI
HuRef6167,278,708 - 167,521,934 (-)NCBIHuRef
CHM1_16170,119,555 - 170,364,373 (-)NCBICHM1_1
T2T-CHM13v2.06170,780,064 - 171,055,943 (-)NCBIT2T-CHM13v2.0
Wdr27
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391715,005,092 - 15,163,540 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1715,038,781 - 15,163,420 (-)EnsemblGRCm39 Ensembl
GRCm381714,784,829 - 14,943,259 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1714,818,519 - 14,943,158 (-)EnsemblGRCm38mm10GRCm38
MGSCv371714,955,679 - 15,080,129 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361714,555,250 - 14,679,700 (-)NCBIMGSCv36mm8
Celera1715,613,111 - 15,743,823 (-)NCBICelera
Cytogenetic Map17A2NCBI
cM Map178.95NCBI
Wdr27
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8164,505,375 - 64,623,573 (-)NCBIGRCr8
mRatBN7.2155,832,240 - 55,950,457 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl155,832,248 - 55,969,038 (-)EnsemblmRatBN7.2 Ensembl
Rnor_6.0156,806,051 - 56,949,681 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl156,808,450 - 56,942,556 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0158,072,847 - 58,132,024 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4153,786,186 - 53,872,378 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1153,755,651 - 53,875,323 (-)NCBI
Celera152,046,593 - 52,162,304 (-)NCBICelera
Cytogenetic Map1q12NCBI
Wdr27
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554113,934,842 - 4,125,395 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554113,928,775 - 4,123,191 (+)NCBIChiLan1.0ChiLan1.0
WDR27
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v25189,715,422 - 189,952,751 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan16187,599,066 - 187,836,167 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v06167,533,231 - 167,774,287 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.16172,372,009 - 172,606,949 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl6172,372,379 - 172,594,078 (-)Ensemblpanpan1.1panPan2
WDR27
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1156,573,432 - 56,787,929 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl156,565,696 - 56,788,150 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha157,362,791 - 57,583,191 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0156,755,050 - 56,969,810 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl156,755,069 - 56,969,545 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1156,649,807 - 56,864,141 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0156,497,428 - 56,712,418 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0157,125,038 - 57,341,209 (-)NCBIUU_Cfam_GSD_1.0
Wdr27
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404946150,751,167 - 150,902,951 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493648917,968,684 - 18,154,912 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493648918,023,695 - 18,154,900 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
WDR27
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1578,480 - 653,704 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11578,491 - 720,106 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21955,861 - 1,224,451 (+)NCBISscrofa10.2Sscrofa10.2susScr3
WDR27
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11397,241,421 - 97,500,147 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366604069,235,900 - 69,505,828 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Wdr27
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248505,443,035 - 5,632,070 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in WDR27
104 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 6q27(chr6:168524169-170612001)x1 copy number loss See cases [RCV000050982] Chr6:168524169..170612001 [GRCh38]
Chr6:168924849..170921089 [GRCh37]
Chr6:168667698..170763014 [NCBI36]
Chr6:6q27
pathogenic
GRCh38/hg38 6q27(chr6:169441378-170612001)x1 copy number loss See cases [RCV000050605] Chr6:169441378..170612001 [GRCh38]
Chr6:169841473..170921089 [GRCh37]
Chr6:169583398..170763014 [NCBI36]
Chr6:6q27
pathogenic
GRCh38/hg38 6q27(chr6:169641704-170612001)x1 copy number loss See cases [RCV000051219] Chr6:169641704..170612001 [GRCh38]
Chr6:170041800..170921089 [GRCh37]
Chr6:169783725..170763014 [NCBI36]
Chr6:6q27
pathogenic
GRCh38/hg38 6q25.2-27(chr6:152376338-170583214)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051902]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051902]|See cases [RCV000051902] Chr6:152376338..170583214 [GRCh38]
Chr6:152697473..170892302 [GRCh37]
Chr6:152739166..170734227 [NCBI36]
Chr6:6q25.2-27
pathogenic
GRCh38/hg38 6q25.3-27(chr6:158664768-170612001)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051904]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051904]|See cases [RCV000051904] Chr6:158664768..170612001 [GRCh38]
Chr6:159085800..170921089 [GRCh37]
Chr6:159005788..170763014 [NCBI36]
Chr6:6q25.3-27
pathogenic
GRCh38/hg38 6q25.2-27(chr6:154118058-170602152)x1 copy number loss See cases [RCV000052207] Chr6:154118058..170602152 [GRCh38]
Chr6:154439193..170911240 [GRCh37]
Chr6:154480885..170753165 [NCBI36]
Chr6:6q25.2-27
pathogenic
GRCh38/hg38 6q25.3-27(chr6:159454639-170612001)x1 copy number loss See cases [RCV000052209] Chr6:159454639..170612001 [GRCh38]
Chr6:159875671..170921089 [GRCh37]
Chr6:159795661..170763014 [NCBI36]
Chr6:6q25.3-27
pathogenic
GRCh38/hg38 6q25.3-27(chr6:159825913-170612001)x1 copy number loss See cases [RCV000052211] Chr6:159825913..170612001 [GRCh38]
Chr6:160246945..170921089 [GRCh37]
Chr6:160166935..170763014 [NCBI36]
Chr6:6q25.3-27
pathogenic
GRCh38/hg38 6q25.3-27(chr6:160328288-170612001)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052212]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052212]|See cases [RCV000052212] Chr6:160328288..170612001 [GRCh38]
Chr6:160749320..170921089 [GRCh37]
Chr6:160669310..170763014 [NCBI36]
Chr6:6q25.3-27
pathogenic
GRCh38/hg38 6q25.3-27(chr6:160359686-170608818)x1 copy number loss See cases [RCV000052213] Chr6:160359686..170608818 [GRCh38]
Chr6:160780718..170917906 [GRCh37]
Chr6:160700708..170759831 [NCBI36]
Chr6:6q25.3-27
pathogenic
GRCh38/hg38 6q25.3-27(chr6:160422761-170612001)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052214]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052214]|See cases [RCV000052214] Chr6:160422761..170612001 [GRCh38]
Chr6:160843793..170921089 [GRCh37]
Chr6:160763783..170763014 [NCBI36]
Chr6:6q25.3-27
pathogenic
GRCh38/hg38 6q26-27(chr6:161205328-170581161)x1 copy number loss See cases [RCV000052215] Chr6:161205328..170581161 [GRCh38]
Chr6:161626360..170890249 [GRCh37]
Chr6:161546350..170732174 [NCBI36]
Chr6:6q26-27
pathogenic
GRCh38/hg38 6q26-27(chr6:162042846-170608818)x1 copy number loss See cases [RCV000052223] Chr6:162042846..170608818 [GRCh38]
Chr6:162463878..170917906 [GRCh37]
Chr6:162383868..170759831 [NCBI36]
Chr6:6q26-27
pathogenic
GRCh38/hg38 6q26-27(chr6:162789915-170602152)x1 copy number loss See cases [RCV000052224] Chr6:162789915..170602152 [GRCh38]
Chr6:163210947..170911240 [GRCh37]
Chr6:163130937..170753165 [NCBI36]
Chr6:6q26-27
pathogenic
GRCh38/hg38 6q26-27(chr6:163420224-170608818)x1 copy number loss See cases [RCV000052225] Chr6:163420224..170608818 [GRCh38]
Chr6:163841256..170917906 [GRCh37]
Chr6:163761246..170759831 [NCBI36]
Chr6:6q26-27
pathogenic
GRCh38/hg38 6q27(chr6:165126489-170581161)x1 copy number loss See cases [RCV000052226] Chr6:165126489..170581161 [GRCh38]
Chr6:165539978..170890249 [GRCh37]
Chr6:165459968..170732174 [NCBI36]
Chr6:6q27
pathogenic
GRCh38/hg38 6q27(chr6:166370159-170602152)x1 copy number loss See cases [RCV000052227] Chr6:166370159..170602152 [GRCh38]
Chr6:166783647..170911240 [GRCh37]
Chr6:166703637..170753165 [NCBI36]
Chr6:6q27
pathogenic
GRCh38/hg38 6q27(chr6:167838308-170581020)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052228]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052228]|See cases [RCV000052228] Chr6:167838308..170581020 [GRCh38]
Chr6:168238988..170890108 [GRCh37]
Chr6:167981837..170732033 [NCBI36]
Chr6:6q27
pathogenic
GRCh38/hg38 6q27(chr6:167924952-170602152)x1 copy number loss See cases [RCV000052229] Chr6:167924952..170602152 [GRCh38]
Chr6:168325632..170911240 [GRCh37]
Chr6:168068481..170753165 [NCBI36]
Chr6:6q27
pathogenic
GRCh38/hg38 6q27(chr6:168180473-170583214)x1 copy number loss See cases [RCV000052230] Chr6:168180473..170583214 [GRCh38]
Chr6:168581153..170892302 [GRCh37]
Chr6:168324002..170734227 [NCBI36]
Chr6:6q27
pathogenic
GRCh38/hg38 6q27(chr6:169021176-170602152)x1 copy number loss See cases [RCV000052243] Chr6:169021176..170602152 [GRCh38]
Chr6:169421271..170911240 [GRCh37]
Chr6:169163196..170753165 [NCBI36]
Chr6:6q27
pathogenic
GRCh37/hg19 6q26-27(chr6:162865436-170901287)x3 copy number gain See cases [RCV000184080] Chr6:162865436..170901287 [GRCh37]
Chr6:6q26-27
pathogenic
GRCh38/hg38 6q25.3-27(chr6:160484810-170612011)x1 copy number loss See cases [RCV000134021] Chr6:160484810..170612011 [GRCh38]
Chr6:160905842..170921099 [GRCh37]
Chr6:160825832..170763024 [NCBI36]
Chr6:6q25.3-27
pathogenic
GRCh38/hg38 6q27(chr6:164790270-170612001)x1 copy number loss See cases [RCV000135415] Chr6:164790270..170612001 [GRCh38]
Chr6:165203779..170921089 [GRCh37]
Chr6:165123769..170763014 [NCBI36]
Chr6:6q27
pathogenic
GRCh38/hg38 6q27(chr6:169688809-170583214)x1 copy number loss See cases [RCV000136831] Chr6:169688809..170583214 [GRCh38]
Chr6:170088905..170892302 [GRCh37]
Chr6:169830830..170734227 [NCBI36]
Chr6:6q27
pathogenic
GRCh38/hg38 6q27(chr6:167145050-170714507)x1 copy number loss See cases [RCV000137523] Chr6:167145050..170714507 [GRCh38]
Chr6:167558538..171023595 [GRCh37]
Chr6:167478528..170865520 [NCBI36]
Chr6:6q27
pathogenic
GRCh38/hg38 6q27(chr6:168802993-170714507)x1 copy number loss See cases [RCV000137643] Chr6:168802993..170714507 [GRCh38]
Chr6:169203088..171023595 [GRCh37]
Chr6:168945013..170865520 [NCBI36]
Chr6:6q27
likely pathogenic
GRCh38/hg38 6q25.2-27(chr6:154539655-170714507)x1 copy number loss See cases [RCV000137381] Chr6:154539655..170714507 [GRCh38]
Chr6:154860789..171023595 [GRCh37]
Chr6:154902481..170865520 [NCBI36]
Chr6:6q25.2-27
pathogenic
GRCh38/hg38 6q27(chr6:168881467-170602152)x1 copy number loss See cases [RCV000137746] Chr6:168881467..170602152 [GRCh38]
Chr6:169281562..170911240 [GRCh37]
Chr6:169023487..170753165 [NCBI36]
Chr6:6q27
pathogenic
GRCh38/hg38 6q27(chr6:168581259-170610394)x1 copy number loss See cases [RCV000140451] Chr6:168581259..170610394 [GRCh38]
Chr6:168981939..170919482 [GRCh37]
Chr6:168724788..170761407 [NCBI36]
Chr6:6q27
pathogenic
GRCh38/hg38 6q25.3-27(chr6:159915390-170714507)x1 copy number loss See cases [RCV000139636] Chr6:159915390..170714507 [GRCh38]
Chr6:160336422..171023595 [GRCh37]
Chr6:160256412..170865520 [NCBI36]
Chr6:6q25.3-27
pathogenic
GRCh38/hg38 6q27(chr6:167963618-170597678)x1 copy number loss See cases [RCV000139526] Chr6:167963618..170597678 [GRCh38]
Chr6:168364298..170906766 [GRCh37]
Chr6:168107147..170748691 [NCBI36]
Chr6:6q27
pathogenic
GRCh38/hg38 6q27(chr6:167896913-170714507)x1 copy number loss See cases [RCV000140812] Chr6:167896913..170714507 [GRCh38]
Chr6:168297593..171023595 [GRCh37]
Chr6:168040442..170865520 [NCBI36]
Chr6:6q27
pathogenic
GRCh38/hg38 6q25.2-27(chr6:152793402-170610394)x1 copy number loss See cases [RCV000141880] Chr6:152793402..170610394 [GRCh38]
Chr6:153114537..170919482 [GRCh37]
Chr6:153156230..170761407 [NCBI36]
Chr6:6q25.2-27
pathogenic
GRCh38/hg38 6q25.2-27(chr6:152376338-170612001)x3 copy number gain See cases [RCV000142594] Chr6:152376338..170612001 [GRCh38]
Chr6:152697473..170921089 [GRCh37]
Chr6:152739166..170763014 [NCBI36]
Chr6:6q25.2-27
pathogenic
GRCh38/hg38 6q26-27(chr6:160899898-170610394)x1 copy number loss See cases [RCV000143619] Chr6:160899898..170610394 [GRCh38]
Chr6:161320930..170919482 [GRCh37]
Chr6:161240920..170761407 [NCBI36]
Chr6:6q26-27
pathogenic
GRCh38/hg38 6q27(chr6:167760366-170610394)x1 copy number loss See cases [RCV000143582] Chr6:167760366..170610394 [GRCh38]
Chr6:168161046..170919482 [GRCh37]
Chr6:167903895..170761407 [NCBI36]
Chr6:6q27
pathogenic
GRCh38/hg38 6q27(chr6:168861627-169441437)x3 copy number gain See cases [RCV000139714] Chr6:168861627..169441437 [GRCh38]
Chr6:169261722..169841532 [GRCh37]
Chr6:169003647..169583457 [NCBI36]
Chr6:6q27
likely benign
GRCh37/hg19 6q27(chr6:165443824-170892302)x1 copy number loss See cases [RCV000239993] Chr6:165443824..170892302 [GRCh37]
Chr6:6q27
pathogenic
GRCh37/hg19 6q27(chr6:168643852-170919482) copy number loss Multiple congenital anomalies/dysmorphic syndrome [RCV002280750] Chr6:168643852..170919482 [GRCh37]
Chr6:6q27
pathogenic
Single allele deletion not provided [RCV000768451] Chr6:162966301..170914973 [GRCh37]
Chr6:6q26-27
likely pathogenic
GRCh37/hg19 6q26-27(chr6:162381975-170919482)x1 copy number loss See cases [RCV000449121] Chr6:162381975..170919482 [GRCh37]
Chr6:6q26-27
pathogenic
GRCh37/hg19 6q27(chr6:169131334-170919482)x3 copy number gain See cases [RCV000446893] Chr6:169131334..170919482 [GRCh37]
Chr6:6q27
pathogenic
GRCh37/hg19 6q26-27(chr6:164361517-170919482)x1 copy number loss See cases [RCV000446024] Chr6:164361517..170919482 [GRCh37]
Chr6:6q26-27
pathogenic
GRCh37/hg19 6q25.1-27(chr6:151214792-170892243)x3 copy number gain See cases [RCV000449011] Chr6:151214792..170892243 [GRCh37]
Chr6:6q25.1-27
pathogenic
GRCh37/hg19 6q27(chr6:168923404-170919482)x1 copy number loss See cases [RCV000448842] Chr6:168923404..170919482 [GRCh37]
Chr6:6q27
pathogenic
GRCh37/hg19 6q27(chr6:168827897-170919482)x1 copy number loss See cases [RCV000447973] Chr6:168827897..170919482 [GRCh37]
Chr6:6q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 copy number gain See cases [RCV000512067] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) copy number gain See cases [RCV000510595] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6q27(chr6:166110423-170919482)x1 copy number loss See cases [RCV000510607] Chr6:166110423..170919482 [GRCh37]
Chr6:6q27
pathogenic
GRCh37/hg19 6q26-27(chr6:164276935-170919482)x1 copy number loss See cases [RCV000511755] Chr6:164276935..170919482 [GRCh37]
Chr6:6q26-27
pathogenic
NM_182552.5(WDR27):c.2374G>A (p.Ala792Thr) single nucleotide variant not specified [RCV004288171] Chr6:169602269 [GRCh38]
Chr6:170002365 [GRCh37]
Chr6:6q27
uncertain significance
NM_182552.5(WDR27):c.1368G>C (p.Glu456Asp) single nucleotide variant not specified [RCV004322579] Chr6:169658310 [GRCh38]
Chr6:170058406 [GRCh37]
Chr6:6q27
uncertain significance
NM_182552.5(WDR27):c.2194C>T (p.Arg732Trp) single nucleotide variant not specified [RCV004314019] Chr6:169632976 [GRCh38]
Chr6:170033072 [GRCh37]
Chr6:6q27
uncertain significance
GRCh37/hg19 6q25.3-27(chr6:159844762-170919482)x3 copy number gain not provided [RCV000682734] Chr6:159844762..170919482 [GRCh37]
Chr6:6q25.3-27
pathogenic
GRCh37/hg19 6q27(chr6:165190527-170919482)x1 copy number loss not provided [RCV000682744] Chr6:165190527..170919482 [GRCh37]
Chr6:6q27
pathogenic
GRCh37/hg19 6q27(chr6:169811293-170384298)x3 copy number gain not provided [RCV000682750] Chr6:169811293..170384298 [GRCh37]
Chr6:6q27
uncertain significance
GRCh37/hg19 6q27(chr6:170077456-170331725)x3 copy number gain not provided [RCV000682751] Chr6:170077456..170331725 [GRCh37]
Chr6:6q27
uncertain significance
GRCh37/hg19 6q27(chr6:167388817-170919482)x1 copy number loss not provided [RCV000682747] Chr6:167388817..170919482 [GRCh37]
Chr6:6q27
pathogenic
GRCh37/hg19 6q27(chr6:169754665-170063130)x3 copy number gain not provided [RCV000682749] Chr6:169754665..170063130 [GRCh37]
Chr6:6q27
likely benign|uncertain significance
46,XX,der(6)(q25.1,q28)dn.seq[GRCh37/hg19]der(6)(6pter->6q25.2(+)(154768571)::q25.2(+)(154778901),q25.2(+)154778992::q25.2(-)(154774048),q25.2(-)(154768571)::q25.2(-)(154768571),q25.1(-)(~151443183-151443483))dn complex Coffin-Siris syndrome 1 [RCV000714957] Chr6:151443333..171115067 [GRCh37]
Chr6:6q25.1-27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 copy number gain not provided [RCV000745403] Chr6:108666..170980171 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 copy number gain not provided [RCV000745400] Chr6:60107..171054786 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 copy number gain not provided [RCV000745404] Chr6:165632..170919470 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6q25.1-27(chr6:150284435-170919470)x3 copy number gain not provided [RCV000746100] Chr6:150284435..170919470 [GRCh37]
Chr6:6q25.1-27
pathogenic
GRCh37/hg19 6q25.3-27(chr6:159155998-171054786)x3 copy number gain not provided [RCV000746132] Chr6:159155998..171054786 [GRCh37]
Chr6:6q25.3-27
pathogenic
GRCh37/hg19 6q27(chr6:165989942-171054786)x1 copy number loss not provided [RCV000746208] Chr6:165989942..171054786 [GRCh37]
Chr6:6q27
pathogenic
GRCh37/hg19 6q27(chr6:169854753-170919470)x1 copy number loss not provided [RCV000746261] Chr6:169854753..170919470 [GRCh37]
Chr6:6q27
likely pathogenic
GRCh37/hg19 6q27(chr6:170051092-170051300)x0 copy number loss not provided [RCV000746262] Chr6:170051092..170051300 [GRCh37]
Chr6:6q27
benign
GRCh37/hg19 6q27(chr6:170051092-170051369)x0 copy number loss not provided [RCV000746263] Chr6:170051092..170051369 [GRCh37]
Chr6:6q27
benign
GRCh37/hg19 6q27(chr6:170051092-170051404)x0 copy number loss not provided [RCV000746264] Chr6:170051092..170051404 [GRCh37]
Chr6:6q27
benign
GRCh37/hg19 6q27(chr6:170051092-170051456)x0 copy number loss not provided [RCV000746265] Chr6:170051092..170051456 [GRCh37]
Chr6:6q27
benign
GRCh37/hg19 6q27(chr6:170051144-170051404)x1 copy number loss not provided [RCV000746266] Chr6:170051144..170051404 [GRCh37]
Chr6:6q27
benign
GRCh37/hg19 6q27(chr6:170068151-170151758)x3 copy number gain not provided [RCV000746267] Chr6:170068151..170151758 [GRCh37]
Chr6:6q27
benign
GRCh37/hg19 6q27(chr6:168311806-170881789) copy number loss not provided [RCV000767674] Chr6:168311806..170881789 [GRCh37]
Chr6:6q27
pathogenic
GRCh37/hg19 6q25.3-27(chr6:159006336-170713678)x3 copy number gain not provided [RCV003312672] Chr6:159006336..170713678 [GRCh37]
Chr6:6q25.3-27
uncertain significance
GRCh37/hg19 6q27(chr6:166517762-170919470) copy number loss not provided [RCV000767664] Chr6:166517762..170919470 [GRCh37]
Chr6:6q27
pathogenic
NM_182552.5(WDR27):c.2533C>T (p.Arg845Cys) single nucleotide variant not provided [RCV000946983] Chr6:169572531 [GRCh38]
Chr6:169972627 [GRCh37]
Chr6:6q27
benign
GRCh37/hg19 6q26-27(chr6:162661108-170919482)x1 copy number loss not provided [RCV001005878] Chr6:162661108..170919482 [GRCh37]
Chr6:6q26-27
pathogenic
GRCh37/hg19 6q27(chr6:166607593-170919482)x1 copy number loss not provided [RCV000846415] Chr6:166607593..170919482 [GRCh37]
Chr6:6q27
pathogenic
GRCh37/hg19 6q27(chr6:169470411-169877779)x3 copy number gain not provided [RCV000847380] Chr6:169470411..169877779 [GRCh37]
Chr6:6q27
uncertain significance
GRCh37/hg19 6q27(chr6:167440417-170919482)x1 copy number loss not provided [RCV001005882] Chr6:167440417..170919482 [GRCh37]
Chr6:6q27
pathogenic
GRCh37/hg19 6q27(chr6:169870610-170049330)x1 copy number loss not provided [RCV001005884] Chr6:169870610..170049330 [GRCh37]
Chr6:6q27
uncertain significance
NM_182552.5(WDR27):c.866C>T (p.Ser289Phe) single nucleotide variant not specified [RCV004315930] Chr6:169664204 [GRCh38]
Chr6:170064300 [GRCh37]
Chr6:6q27
likely benign
GRCh37/hg19 6q26-27(chr6:162452035-170919482)x1 copy number loss not provided [RCV001005874] Chr6:162452035..170919482 [GRCh37]
Chr6:6q26-27
pathogenic
GRCh37/hg19 6q27(chr6:166083476-170919482)x3 copy number gain not provided [RCV001258773] Chr6:166083476..170919482 [GRCh37]
Chr6:6q27
likely pathogenic
GRCh37/hg19 6q27(chr6:167580012-170919482)x1 copy number loss not provided [RCV001258925] Chr6:167580012..170919482 [GRCh37]
Chr6:6q27
pathogenic
GRCh37/hg19 6q27(chr6:167770398-170919482)x1 copy number loss See cases [RCV002285064] Chr6:167770398..170919482 [GRCh37]
Chr6:6q27
pathogenic
GRCh37/hg19 6q27(chr6:169830713-171022896)x1 copy number loss Intellectual developmental disorder with seizures and language delay [RCV001801212] Chr6:169830713..171022896 [GRCh37]
Chr6:6q27
pathogenic
GRCh37/hg19 6q26-27(chr6:162212864-170919482) copy number gain not specified [RCV002053652] Chr6:162212864..170919482 [GRCh37]
Chr6:6q26-27
pathogenic
GRCh37/hg19 6q27(chr6:170024484-170074706)x1 copy number loss not provided [RCV001834508] Chr6:170024484..170074706 [GRCh37]
Chr6:6q27
likely benign
GRCh37/hg19 6q26-27(chr6:162381975-170919482) copy number loss not specified [RCV002053653] Chr6:162381975..170919482 [GRCh37]
Chr6:6q26-27
pathogenic
GRCh37/hg19 6q26-27(chr6:163290087-170919482) copy number loss not specified [RCV002053655] Chr6:163290087..170919482 [GRCh37]
Chr6:6q26-27
pathogenic
GRCh37/hg19 6q27(chr6:168939661-170919482)x1 copy number loss not provided [RCV001836576] Chr6:168939661..170919482 [GRCh37]
Chr6:6q27
pathogenic
GRCh37/hg19 6q26-27(chr6:161047873-170919482) copy number loss not specified [RCV002053651] Chr6:161047873..170919482 [GRCh37]
Chr6:6q26-27
pathogenic
GRCh37/hg19 6q27(chr6:167317903-170919482) copy number loss not specified [RCV002053659] Chr6:167317903..170919482 [GRCh37]
Chr6:6q27
pathogenic
GRCh37/hg19 6q27(chr6:168051206-170919482)x1 copy number loss not provided [RCV001827651] Chr6:168051206..170919482 [GRCh37]
Chr6:6q27
pathogenic
NM_182552.5(WDR27):c.1801C>G (p.Leu601Val) single nucleotide variant not specified [RCV004295018] Chr6:169638607 [GRCh38]
Chr6:170038703 [GRCh37]
Chr6:6q27
uncertain significance
GRCh37/hg19 6q27(chr6:168552894-170919482)x1 copy number loss See cases [RCV002292396] Chr6:168552894..170919482 [GRCh37]
Chr6:6q27
pathogenic
GRCh37/hg19 6q26-27(chr6:163836226-170893669)x1 copy number loss not provided [RCV002293168] Chr6:163836226..170893669 [GRCh37]
Chr6:6q26-27
pathogenic
GRCh37/hg19 6q25.3-27(chr6:159121459-170919482) copy number loss Hydrocephalus [RCV002280751] Chr6:159121459..170919482 [GRCh37]
Chr6:6q25.3-27
pathogenic
NM_182552.5(WDR27):c.2383C>T (p.Pro795Ser) single nucleotide variant not specified [RCV004302630] Chr6:169602260 [GRCh38]
Chr6:170002356 [GRCh37]
Chr6:6q27
uncertain significance
NM_182552.5(WDR27):c.54A>G (p.Ile18Met) single nucleotide variant not specified [RCV004309148] Chr6:169688952 [GRCh38]
Chr6:170089048 [GRCh37]
Chr6:6q27
uncertain significance
GRCh37/hg19 6q26-27(chr6:163181847-170919482)x1 copy number loss not provided [RCV002472604] Chr6:163181847..170919482 [GRCh37]
Chr6:6q26-27
pathogenic
NM_182552.5(WDR27):c.2420G>A (p.Arg807Lys) single nucleotide variant not specified [RCV004239161] Chr6:169602223 [GRCh38]
Chr6:170002319 [GRCh37]
Chr6:6q27
uncertain significance
NM_182552.5(WDR27):c.1976T>C (p.Ile659Thr) single nucleotide variant not specified [RCV004217302] Chr6:169636398 [GRCh38]
Chr6:170036494 [GRCh37]
Chr6:6q27
uncertain significance
NM_182552.5(WDR27):c.461G>A (p.Arg154Gln) single nucleotide variant not specified [RCV004226672] Chr6:169668181 [GRCh38]
Chr6:170068277 [GRCh37]
Chr6:6q27
uncertain significance
NM_182552.5(WDR27):c.935T>C (p.Leu312Pro) single nucleotide variant not specified [RCV004151069] Chr6:169662394 [GRCh38]
Chr6:170062490 [GRCh37]
Chr6:6q27
uncertain significance
NM_182552.5(WDR27):c.821G>A (p.Arg274His) single nucleotide variant not specified [RCV004240335] Chr6:169664249 [GRCh38]
Chr6:170064345 [GRCh37]
Chr6:6q27
uncertain significance
NM_182552.5(WDR27):c.2476C>T (p.His826Tyr) single nucleotide variant not specified [RCV004241116] Chr6:169582883 [GRCh38]
Chr6:169982979 [GRCh37]
Chr6:6q27
uncertain significance
NM_182552.5(WDR27):c.629T>G (p.Leu210Arg) single nucleotide variant not specified [RCV004088723] Chr6:169668013 [GRCh38]
Chr6:170068109 [GRCh37]
Chr6:6q27
uncertain significance
NM_182552.5(WDR27):c.1222T>C (p.Phe408Leu) single nucleotide variant not specified [RCV004193077] Chr6:169659183 [GRCh38]
Chr6:170059279 [GRCh37]
Chr6:6q27
uncertain significance
NM_182552.5(WDR27):c.2521C>A (p.Gln841Lys) single nucleotide variant not specified [RCV004090707] Chr6:169582838 [GRCh38]
Chr6:169982934 [GRCh37]
Chr6:6q27
uncertain significance
NM_182552.5(WDR27):c.2398G>A (p.Ala800Thr) single nucleotide variant not specified [RCV004192444] Chr6:169602245 [GRCh38]
Chr6:170002341 [GRCh37]
Chr6:6q27
uncertain significance
NM_182552.5(WDR27):c.2437G>C (p.Glu813Gln) single nucleotide variant not specified [RCV004124063] Chr6:169582922 [GRCh38]
Chr6:169983018 [GRCh37]
Chr6:6q27
uncertain significance
NM_182552.5(WDR27):c.560G>T (p.Arg187Leu) single nucleotide variant not specified [RCV004233429] Chr6:169668082 [GRCh38]
Chr6:170068178 [GRCh37]
Chr6:6q27
likely benign
NM_182552.5(WDR27):c.911G>A (p.Ser304Asn) single nucleotide variant not specified [RCV004098480] Chr6:169662418 [GRCh38]
Chr6:170062514 [GRCh37]
Chr6:6q27
uncertain significance
NM_182552.5(WDR27):c.1261G>A (p.Ala421Thr) single nucleotide variant not specified [RCV004229831] Chr6:169659144 [GRCh38]
Chr6:170059240 [GRCh37]
Chr6:6q27
uncertain significance
NM_182552.5(WDR27):c.1048T>C (p.Cys350Arg) single nucleotide variant not specified [RCV004209171] Chr6:169660744 [GRCh38]
Chr6:170060840 [GRCh37]
Chr6:6q27
uncertain significance
NM_182552.5(WDR27):c.1228G>A (p.Gly410Arg) single nucleotide variant not specified [RCV004111011] Chr6:169659177 [GRCh38]
Chr6:170059273 [GRCh37]
Chr6:6q27
uncertain significance
NM_182552.5(WDR27):c.1045C>G (p.Arg349Gly) single nucleotide variant not specified [RCV004108053] Chr6:169660747 [GRCh38]
Chr6:170060843 [GRCh37]
Chr6:6q27
uncertain significance
NM_182552.5(WDR27):c.1262C>T (p.Ala421Val) single nucleotide variant not specified [RCV004155156] Chr6:169659143 [GRCh38]
Chr6:170059239 [GRCh37]
Chr6:6q27
uncertain significance
NM_182552.5(WDR27):c.1181G>A (p.Arg394His) single nucleotide variant not specified [RCV004104064] Chr6:169659467 [GRCh38]
Chr6:170059563 [GRCh37]
Chr6:6q27
uncertain significance
NM_182552.5(WDR27):c.289A>G (p.Ile97Val) single nucleotide variant not specified [RCV004127443] Chr6:169672297 [GRCh38]
Chr6:170072393 [GRCh37]
Chr6:6q27
uncertain significance
NM_182552.5(WDR27):c.104A>T (p.Gln35Leu) single nucleotide variant not specified [RCV004197694] Chr6:169688902 [GRCh38]
Chr6:170088998 [GRCh37]
Chr6:6q27
uncertain significance
NM_182552.5(WDR27):c.2195G>A (p.Arg732Gln) single nucleotide variant not specified [RCV004184135] Chr6:169632975 [GRCh38]
Chr6:170033071 [GRCh37]
Chr6:6q27
uncertain significance
NM_182552.5(WDR27):c.1429C>T (p.Arg477Cys) single nucleotide variant not specified [RCV004175964] Chr6:169651982 [GRCh38]
Chr6:170052078 [GRCh37]
Chr6:6q27
uncertain significance
NM_182552.5(WDR27):c.1379A>G (p.Lys460Arg) single nucleotide variant not specified [RCV004245453] Chr6:169658299 [GRCh38]
Chr6:170058395 [GRCh37]
Chr6:6q27
uncertain significance
NM_182552.5(WDR27):c.1946G>T (p.Gly649Val) single nucleotide variant not specified [RCV004240837] Chr6:169636428 [GRCh38]
Chr6:170036524 [GRCh37]
Chr6:6q27
uncertain significance
NM_182552.5(WDR27):c.1474G>C (p.Ala492Pro) single nucleotide variant not specified [RCV004071152] Chr6:169651937 [GRCh38]
Chr6:170052033 [GRCh37]
Chr6:6q27
uncertain significance
NM_182552.5(WDR27):c.1070T>G (p.Val357Gly) single nucleotide variant not specified [RCV004120015] Chr6:169660722 [GRCh38]
Chr6:170060818 [GRCh37]
Chr6:6q27
uncertain significance
NM_182552.5(WDR27):c.1964T>G (p.Leu655Arg) single nucleotide variant not specified [RCV004183523] Chr6:169636410 [GRCh38]
Chr6:170036506 [GRCh37]
Chr6:6q27
uncertain significance
NM_182552.5(WDR27):c.271G>A (p.Ala91Thr) single nucleotide variant not specified [RCV004180093] Chr6:169672315 [GRCh38]
Chr6:170072411 [GRCh37]
Chr6:6q27
uncertain significance
NM_182552.5(WDR27):c.2044T>C (p.Ser682Pro) single nucleotide variant not specified [RCV004236284] Chr6:169634485 [GRCh38]
Chr6:170034581 [GRCh37]
Chr6:6q27
likely benign
NM_182552.5(WDR27):c.509A>G (p.Lys170Arg) single nucleotide variant not specified [RCV004176035] Chr6:169668133 [GRCh38]
Chr6:170068229 [GRCh37]
Chr6:6q27
uncertain significance
NM_182552.5(WDR27):c.1178A>G (p.Asn393Ser) single nucleotide variant not specified [RCV004156766] Chr6:169659470 [GRCh38]
Chr6:170059566 [GRCh37]
Chr6:6q27
likely benign
NM_182552.5(WDR27):c.820C>T (p.Arg274Cys) single nucleotide variant not specified [RCV004223539] Chr6:169664250 [GRCh38]
Chr6:170064346 [GRCh37]
Chr6:6q27
uncertain significance
NM_182552.5(WDR27):c.1217C>T (p.Ser406Phe) single nucleotide variant not specified [RCV004075349] Chr6:169659188 [GRCh38]
Chr6:170059284 [GRCh37]
Chr6:6q27
uncertain significance
NM_182552.5(WDR27):c.1755C>A (p.Asp585Glu) single nucleotide variant not specified [RCV004248465] Chr6:169638653 [GRCh38]
Chr6:170038749 [GRCh37]
Chr6:6q27
uncertain significance
NM_182552.5(WDR27):c.1858G>A (p.Ala620Thr) single nucleotide variant not specified [RCV004264166] Chr6:169638550 [GRCh38]
Chr6:170038646 [GRCh37]
Chr6:6q27
uncertain significance
NM_182552.5(WDR27):c.1348T>C (p.Tyr450His) single nucleotide variant not specified [RCV004263806] Chr6:169658330 [GRCh38]
Chr6:170058426 [GRCh37]
Chr6:6q27
uncertain significance
NM_182552.5(WDR27):c.425C>A (p.Ala142Asp) single nucleotide variant not specified [RCV004280115] Chr6:169670600 [GRCh38]
Chr6:170070696 [GRCh37]
Chr6:6q27
uncertain significance
NM_182552.5(WDR27):c.883T>A (p.Ser295Thr) single nucleotide variant not specified [RCV004265941] Chr6:169664187 [GRCh38]
Chr6:170064283 [GRCh37]
Chr6:6q27
uncertain significance
GRCh38/hg38 6q26-27(chr6:161349282-170584790)x1 copy number loss Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV003327715] Chr6:161349282..170584790 [GRCh38]
Chr6:6q26-27
pathogenic
GRCh37/hg19 6q25.3-27(chr6:160952761-170892276)x1 copy number loss not provided [RCV003334287] Chr6:160952761..170892276 [GRCh37]
Chr6:6q25.3-27
pathogenic
NM_182552.5(WDR27):c.349A>G (p.Thr117Ala) single nucleotide variant not specified [RCV004363577] Chr6:169670676 [GRCh38]
Chr6:170070772 [GRCh37]
Chr6:6q27
uncertain significance
NM_182552.5(WDR27):c.2087A>G (p.Asn696Ser) single nucleotide variant not specified [RCV004341082] Chr6:169634442 [GRCh38]
Chr6:170034538 [GRCh37]
Chr6:6q27
uncertain significance
NM_182552.5(WDR27):c.766G>A (p.Gly256Arg) single nucleotide variant not specified [RCV004336860] Chr6:169665503 [GRCh38]
Chr6:170065599 [GRCh37]
Chr6:6q27
uncertain significance
NM_182552.5(WDR27):c.2065A>G (p.Met689Val) single nucleotide variant not specified [RCV004353388] Chr6:169634464 [GRCh38]
Chr6:170034560 [GRCh37]
Chr6:6q27
likely benign
NM_182552.5(WDR27):c.2150T>C (p.Leu717Pro) single nucleotide variant not specified [RCV004363895] Chr6:169633020 [GRCh38]
Chr6:170033116 [GRCh37]
Chr6:6q27
uncertain significance
GRCh37/hg19 6q27(chr6:167091844-170919482)x1 copy number loss not provided [RCV003482936] Chr6:167091844..170919482 [GRCh37]
Chr6:6q27
pathogenic
GRCh37/hg19 6q27(chr6:169584218-169872314)x3 copy number gain not provided [RCV003484664] Chr6:169584218..169872314 [GRCh37]
Chr6:6q27
uncertain significance
NM_182552.5(WDR27):c.2524-7_2524-4del deletion not provided [RCV003677074] Chr6:169572544..169572547 [GRCh38]
Chr6:169972640..169972643 [GRCh37]
Chr6:6q27
benign
GRCh37/hg19 6q26-27(chr6:162079329-170919482)x1 copy number loss not specified [RCV003986639] Chr6:162079329..170919482 [GRCh37]
Chr6:6q26-27
pathogenic
GRCh37/hg19 6q25.2-27(chr6:152853218-170914297)x1 copy number loss See cases [RCV004442824] Chr6:152853218..170914297 [GRCh37]
Chr6:6q25.2-27
pathogenic
GRCh37/hg19 6q26-27(chr6:162124972-170893669)x1 copy number loss not provided [RCV003885515] Chr6:162124972..170893669 [GRCh37]
Chr6:6q26-27
pathogenic
NM_182552.5(WDR27):c.1036G>A (p.Glu346Lys) single nucleotide variant not specified [RCV004478280] Chr6:169660756 [GRCh38]
Chr6:170060852 [GRCh37]
Chr6:6q27
uncertain significance
NM_182552.5(WDR27):c.1240G>A (p.Val414Met) single nucleotide variant not specified [RCV004478281] Chr6:169659165 [GRCh38]
Chr6:170059261 [GRCh37]
Chr6:6q27
uncertain significance
NM_182552.5(WDR27):c.1241T>C (p.Val414Ala) single nucleotide variant not specified [RCV004478282] Chr6:169659164 [GRCh38]
Chr6:170059260 [GRCh37]
Chr6:6q27
uncertain significance
NM_182552.5(WDR27):c.1414G>A (p.Val472Ile) single nucleotide variant not specified [RCV004478283] Chr6:169651997 [GRCh38]
Chr6:170052093 [GRCh37]
Chr6:6q27
uncertain significance
NM_182552.5(WDR27):c.1444A>G (p.Ser482Gly) single nucleotide variant not specified [RCV004478284] Chr6:169651967 [GRCh38]
Chr6:170052063 [GRCh37]
Chr6:6q27
uncertain significance
NM_182552.5(WDR27):c.1503G>T (p.Lys501Asn) single nucleotide variant not specified [RCV004478285] Chr6:169649254 [GRCh38]
Chr6:170049350 [GRCh37]
Chr6:6q27
uncertain significance
NM_182552.5(WDR27):c.178C>T (p.Pro60Ser) single nucleotide variant not specified [RCV004478286] Chr6:169688828 [GRCh38]
Chr6:170088924 [GRCh37]
Chr6:6q27
uncertain significance
NM_182552.5(WDR27):c.1858G>T (p.Ala620Ser) single nucleotide variant not specified [RCV004478287] Chr6:169638550 [GRCh38]
Chr6:170038646 [GRCh37]
Chr6:6q27
uncertain significance
NM_182552.5(WDR27):c.1929T>A (p.Phe643Leu) single nucleotide variant not specified [RCV004478288] Chr6:169636445 [GRCh38]
Chr6:170036541 [GRCh37]
Chr6:6q27
uncertain significance
NM_182552.5(WDR27):c.2153A>G (p.Asn718Ser) single nucleotide variant not specified [RCV004478290] Chr6:169633017 [GRCh38]
Chr6:170033113 [GRCh37]
Chr6:6q27
uncertain significance
NM_182552.5(WDR27):c.2158G>A (p.Gly720Ser) single nucleotide variant not specified [RCV004478291] Chr6:169633012 [GRCh38]
Chr6:170033108 [GRCh37]
Chr6:6q27
uncertain significance
NM_182552.5(WDR27):c.2158G>T (p.Gly720Cys) single nucleotide variant not specified [RCV004478292] Chr6:169633012 [GRCh38]
Chr6:170033108 [GRCh37]
Chr6:6q27
uncertain significance
NM_182552.5(WDR27):c.2225G>T (p.Gly742Val) single nucleotide variant not specified [RCV004478293] Chr6:169613655 [GRCh38]
Chr6:170013751 [GRCh37]
Chr6:6q27
uncertain significance
NM_182552.5(WDR27):c.2326G>C (p.Glu776Gln) single nucleotide variant not specified [RCV004478294] Chr6:169602317 [GRCh38]
Chr6:170002413 [GRCh37]
Chr6:6q27
uncertain significance
NM_182552.5(WDR27):c.2330G>A (p.Arg777His) single nucleotide variant not specified [RCV004478295] Chr6:169602313 [GRCh38]
Chr6:170002409 [GRCh37]
Chr6:6q27
uncertain significance
NM_182552.5(WDR27):c.2348C>T (p.Pro783Leu) single nucleotide variant not specified [RCV004478296] Chr6:169602295 [GRCh38]
Chr6:170002391 [GRCh37]
Chr6:6q27
uncertain significance
NM_182552.5(WDR27):c.587C>T (p.Pro196Leu) single nucleotide variant not specified [RCV004478297] Chr6:169668055 [GRCh38]
Chr6:170068151 [GRCh37]
Chr6:6q27
uncertain significance
NM_182552.5(WDR27):c.833G>A (p.Arg278Gln) single nucleotide variant not specified [RCV004478298] Chr6:169664237 [GRCh38]
Chr6:170064333 [GRCh37]
Chr6:6q27
uncertain significance
NM_182552.5(WDR27):c.1932A>G (p.Ile644Met) single nucleotide variant not specified [RCV004688725] Chr6:169636442 [GRCh38]
Chr6:170036538 [GRCh37]
Chr6:6q27
uncertain significance
NM_182552.5(WDR27):c.1558C>T (p.Arg520Trp) single nucleotide variant not specified [RCV004678190] Chr6:169649199 [GRCh38]
Chr6:170049295 [GRCh37]
Chr6:6q27
likely benign
NM_182552.5(WDR27):c.2056G>A (p.Ala686Thr) single nucleotide variant not specified [RCV004678191] Chr6:169634473 [GRCh38]
Chr6:170034569 [GRCh37]
Chr6:6q27
uncertain significance
NM_182552.5(WDR27):c.2189A>G (p.His730Arg) single nucleotide variant not specified [RCV004678192] Chr6:169632981 [GRCh38]
Chr6:170033077 [GRCh37]
Chr6:6q27
uncertain significance
NM_182552.5(WDR27):c.1046G>A (p.Arg349Gln) single nucleotide variant not specified [RCV004678193] Chr6:169660746 [GRCh38]
Chr6:170060842 [GRCh37]
Chr6:6q27
likely benign
NM_182552.5(WDR27):c.1261G>T (p.Ala421Ser) single nucleotide variant not specified [RCV004678194] Chr6:169659144 [GRCh38]
Chr6:170059240 [GRCh37]
Chr6:6q27
uncertain significance
NM_182552.5(WDR27):c.737T>A (p.Ile246Asn) single nucleotide variant not specified [RCV004678195] Chr6:169665532 [GRCh38]
Chr6:170065628 [GRCh37]
Chr6:6q27
uncertain significance
NM_182552.5(WDR27):c.2438A>G (p.Glu813Gly) single nucleotide variant not specified [RCV004678196] Chr6:169582921 [GRCh38]
Chr6:169983017 [GRCh37]
Chr6:6q27
uncertain significance
NM_182552.5(WDR27):c.824G>A (p.Arg275His) single nucleotide variant not specified [RCV004678187] Chr6:169664246 [GRCh38]
Chr6:170064342 [GRCh37]
Chr6:6q27
uncertain significance
NM_182552.5(WDR27):c.314G>A (p.Arg105Lys) single nucleotide variant not specified [RCV004678188] Chr6:169672272 [GRCh38]
Chr6:170072368 [GRCh37]
Chr6:6q27
uncertain significance
NM_182552.5(WDR27):c.2123G>A (p.Arg708Gln) single nucleotide variant not specified [RCV004678189] Chr6:169633047 [GRCh38]
Chr6:170033143 [GRCh37]
Chr6:6q27
uncertain significance
NM_182552.5(WDR27):c.1986C>G (p.Cys662Trp) single nucleotide variant not specified [RCV004678197] Chr6:169636388 [GRCh38]
Chr6:170036484 [GRCh37]
Chr6:6q27
uncertain significance
NM_182552.5(WDR27):c.1813C>T (p.Arg605Trp) single nucleotide variant not specified [RCV004678198] Chr6:169638595 [GRCh38]
Chr6:170038691 [GRCh37]
Chr6:6q27
uncertain significance
NM_182552.5(WDR27):c.2078C>T (p.Ser693Leu) single nucleotide variant not specified [RCV004884634] Chr6:169634451 [GRCh38]
Chr6:170034547 [GRCh37]
Chr6:6q27
uncertain significance
GRCh37/hg19 6q24.2-27(chr6:144561123-170919482)x3 copy number gain not provided [RCV004819303] Chr6:144561123..170919482 [GRCh37]
Chr6:6q24.2-27
pathogenic
NM_182552.5(WDR27):c.2486C>G (p.Thr829Ser) single nucleotide variant not specified [RCV004884636] Chr6:169582873 [GRCh38]
Chr6:169982969 [GRCh37]
Chr6:6q27
uncertain significance
NM_182552.5(WDR27):c.2182G>C (p.Glu728Gln) single nucleotide variant not specified [RCV004884633] Chr6:169632988 [GRCh38]
Chr6:170033084 [GRCh37]
Chr6:6q27
uncertain significance
NM_182552.5(WDR27):c.2048C>G (p.Thr683Arg) single nucleotide variant not specified [RCV004884635] Chr6:169634481 [GRCh38]
Chr6:170034577 [GRCh37]
Chr6:6q27
uncertain significance
NM_182552.5(WDR27):c.1744T>C (p.Ser582Pro) single nucleotide variant not specified [RCV004884637] Chr6:169643700 [GRCh38]
Chr6:170043796 [GRCh37]
Chr6:6q27
uncertain significance
NM_182552.5(WDR27):c.1907A>G (p.Gln636Arg) single nucleotide variant not specified [RCV004884638] Chr6:169636467 [GRCh38]
Chr6:170036563 [GRCh37]
Chr6:6q27
uncertain significance
GRCh37/hg19 6q25.2-27(chr6:153777725-170919482)x1 copy number loss not provided [RCV004819349] Chr6:153777725..170919482 [GRCh37]
Chr6:6q25.2-27
pathogenic
GRCh37/hg19 6q25.3-27(chr6:158471960-170919482)x1 copy number loss not provided [RCV004819350] Chr6:158471960..170919482 [GRCh37]
Chr6:6q25.3-27
pathogenic
NM_182552.5(WDR27):c.1894A>G (p.Ile632Val) single nucleotide variant not specified [RCV004890246] Chr6:169636480 [GRCh38]
Chr6:170036576 [GRCh37]
Chr6:6q27
likely benign
NM_182552.5(WDR27):c.1903G>A (p.Ala635Thr) single nucleotide variant not specified [RCV004890247] Chr6:169636471 [GRCh38]
Chr6:170036567 [GRCh37]
Chr6:6q27
uncertain significance
NM_182552.5(WDR27):c.283T>C (p.Tyr95His) single nucleotide variant not specified [RCV004890248] Chr6:169672303 [GRCh38]
Chr6:170072399 [GRCh37]
Chr6:6q27
uncertain significance
NM_182552.5(WDR27):c.2365T>A (p.Cys789Ser) single nucleotide variant not specified [RCV004890249] Chr6:169602278 [GRCh38]
Chr6:170002374 [GRCh37]
Chr6:6q27
uncertain significance
NM_182552.5(WDR27):c.502C>T (p.Arg168Cys) single nucleotide variant not specified [RCV004890250] Chr6:169668140 [GRCh38]
Chr6:170068236 [GRCh37]
Chr6:6q27
uncertain significance
NM_182552.5(WDR27):c.1000C>T (p.Leu334Phe) single nucleotide variant not specified [RCV004890251] Chr6:169662329 [GRCh38]
Chr6:170062425 [GRCh37]
Chr6:6q27
uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:2292
Count of miRNA genes:959
Interacting mature miRNAs:1111
Transcripts:ENST00000333572, ENST00000420344, ENST00000423258, ENST00000441385, ENST00000448612, ENST00000464249, ENST00000467418, ENST00000474018, ENST00000476322, ENST00000479310, ENST00000486490, ENST00000496752, ENST00000546525, ENST00000546953
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597229048GWAS1325122_Hsmoking status measurement QTL GWAS1325122 (human)1e-08smoking status measurement6169652869169652870Human
597370296GWAS1466370_HHIV-1 infection QTL GWAS1466370 (human)0.000002response to viral infection trait (VT:0010439)6169558886169558887Human
597076766GWAS1172840_Hcoronary artery calcification QTL GWAS1172840 (human)0.000007coronary artery calcification6169448871169448872Human
597432374GWAS1528448_Hprotein measurement QTL GWAS1528448 (human)1e-16protein measurement6169430405169430406Human
597050108GWAS1146182_Hendometriosis QTL GWAS1146182 (human)0.000009endometriosis6169509938169509939Human
597093180GWAS1189254_Hresponse to TNF antagonist QTL GWAS1189254 (human)0.0000006response to TNF antagonist6169570527169570528Human
597225362GWAS1321436_Hself reported educational attainment QTL GWAS1321436 (human)5e-11self reported educational attainment6169675945169675946Human
597608980GWAS1665840_Hnutritional deficiency disease QTL GWAS1665840 (human)1e-11nutritional deficiency disease6169684778169684779Human
597119579GWAS1215653_Hlymphocyte count QTL GWAS1215653 (human)5e-08lymphocyte countblood lymphocyte count (CMO:0000031)6169488407169488408Human
597059515GWAS1155589_Hvital capacity QTL GWAS1155589 (human)6e-11vital capacity6169476684169476685Human
597139801GWAS1235875_Hsmoking initiation QTL GWAS1235875 (human)4e-12smoking initiation6169652869169652870Human
597115224GWAS1211298_Hself reported educational attainment QTL GWAS1211298 (human)1e-10self reported educational attainment6169675945169675946Human
407132021GWAS780997_Hinsomnia measurement QTL GWAS780997 (human)3e-08sleep behavior trait (VT:0001501)6169561539169561540Human
597040708GWAS1136782_HHallux valgus QTL GWAS1136782 (human)0.000002Hallux valgus6169675640169675641Human
597188076GWAS1284150_Hsmoking initiation QTL GWAS1284150 (human)6e-15smoking initiation6169654271169654272Human
1643404BMD3_HBone mineral density QTL 3 (human)2.420.0005Bone mineral density6157563614170805979Human
597276236GWAS1372310_Heducational attainment QTL GWAS1372310 (human)2e-13educational attainment6169642369169642370Human
597114798GWAS1210872_HDNA methylation QTL GWAS1210872 (human)3e-08DNA methylation6169652762169652763Human
407263610GWAS912586_Hneutrophil count QTL GWAS912586 (human)3e-10neutrophil quantity (VT:0000222)blood neutrophil count (CMO:0000030)6169609684169609685Human
1643367BW323_HBody weight QTL 323 (human)2.420.0005Body fat amount6157563614170805979Human
597069097GWAS1165171_Hinsomnia QTL GWAS1165171 (human)2e-08insomnia6169561539169561540Human

Markers in Region
D6S281  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376169,997,898 - 169,998,059UniSTSGRCh37
GRCh376169,997,844 - 169,998,052UniSTSGRCh37
GRCh376169,997,957 - 169,998,059UniSTSGRCh37
Build 366169,739,882 - 169,739,984RGDNCBI36
Celera6170,708,141 - 170,708,300UniSTS
Celera6170,708,200 - 170,708,300RGD
Celera6170,708,087 - 170,708,293UniSTS
Cytogenetic Map6q27UniSTS
HuRef6167,419,922 - 167,420,022UniSTS
HuRef6167,419,863 - 167,420,022UniSTS
HuRef6167,419,809 - 167,420,015UniSTS
Marshfield Genetic Map6190.14RGD
Genethon Genetic Map6201.1UniSTS
TNG Radiation Hybrid Map685013.0UniSTS
deCODE Assembly Map6188.38UniSTS
Stanford-G3 RH Map66741.0UniSTS
GeneMap99-GB4 RH Map6648.15UniSTS
Whitehead-RH Map6851.7UniSTS
Whitehead-YAC Contig Map6 UniSTS
NCBI RH Map61674.5UniSTS
GeneMap99-G3 RH Map67044.0UniSTS
RH46814  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376169,889,138 - 169,889,307UniSTSGRCh37
Build 366169,631,063 - 169,631,232RGDNCBI36
Celera6170,599,310 - 170,599,479RGD
Cytogenetic Map6q27UniSTS
HuRef6167,310,475 - 167,310,644UniSTS
GeneMap99-GB4 RH Map6647.06UniSTS
NCBI RH Map61674.5UniSTS
AL022496  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376170,034,838 - 170,034,998UniSTSGRCh37
Build 366169,776,763 - 169,776,923RGDNCBI36
Celera6170,745,085 - 170,745,245RGD
Cytogenetic Map6q27UniSTS
HuRef6167,456,745 - 167,456,905UniSTS
RH103546  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376169,957,955 - 169,958,177UniSTSGRCh37
Build 366169,699,880 - 169,700,102RGDNCBI36
Celera6170,668,160 - 170,668,382RGD
Cytogenetic Map6q27UniSTS
HuRef6167,379,332 - 167,379,554UniSTS
GeneMap99-GB4 RH Map6649.36UniSTS
SHGC-143020  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376169,916,033 - 169,916,347UniSTSGRCh37
Build 366169,657,958 - 169,658,272RGDNCBI36
Celera6170,626,224 - 170,626,538RGD
Cytogenetic Map6q27UniSTS
HuRef6167,337,389 - 167,337,703UniSTS
TNG Radiation Hybrid Map684990.0UniSTS
SHGC-146475  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376170,064,747 - 170,064,937UniSTSGRCh37
Build 366169,806,672 - 169,806,862RGDNCBI36
Celera6170,774,994 - 170,775,184RGD
Cytogenetic Map6q27UniSTS
HuRef6167,484,212 - 167,484,402UniSTS
TNG Radiation Hybrid Map685052.0UniSTS
WI-18460  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376170,057,868 - 170,057,974UniSTSGRCh37
Build 366169,799,793 - 169,799,899RGDNCBI36
Celera6170,768,115 - 170,768,221RGD
Cytogenetic Map6q27UniSTS
HuRef6167,477,333 - 167,477,439UniSTS
GeneMap99-GB4 RH Map6649.36UniSTS
Whitehead-RH Map6851.7UniSTS
REN108774  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37790,441,527 - 90,441,770UniSTSGRCh37
GRCh376169,910,471 - 169,910,714UniSTSGRCh37
Build 366169,652,396 - 169,652,639RGDNCBI36
Celera6170,620,559 - 170,620,802RGD
Celera785,145,541 - 85,145,784UniSTS
HuRef6167,331,724 - 167,331,967UniSTS
HuRef785,049,910 - 85,050,153UniSTS
CRA_TCAGchr7v2789,772,305 - 89,772,548UniSTS
RH16333  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376170,066,554 - 170,066,681UniSTSGRCh37
Build 366169,808,479 - 169,808,606RGDNCBI36
Celera6170,776,739 - 170,776,866RGD
Cytogenetic Map6q27UniSTS
HuRef6167,486,329 - 167,486,456UniSTS
GeneMap99-GB4 RH Map6645.75UniSTS
AFM234YF4  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376169,938,764 - 169,939,014UniSTSGRCh37
Build 366169,680,689 - 169,680,939RGDNCBI36
Celera6170,648,959 - 170,649,209RGD
Cytogenetic Map6q27UniSTS
HuRef6167,360,131 - 167,360,381UniSTS
Whitehead-YAC Contig Map6 UniSTS
RH45974  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376169,857,479 - 169,857,662UniSTSGRCh37
Build 366169,599,404 - 169,599,587RGDNCBI36
Celera6170,567,653 - 170,567,836RGD
Cytogenetic Map6q27UniSTS
HuRef6167,278,884 - 167,279,067UniSTS
GeneMap99-GB4 RH Map6652.75UniSTS
SHGC-35081  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376170,066,455 - 170,066,579UniSTSGRCh37
Build 366169,808,380 - 169,808,504RGDNCBI36
Celera6170,776,640 - 170,776,764RGD
Cytogenetic Map6q27UniSTS
HuRef6167,486,230 - 167,486,354UniSTS
Stanford-G3 RH Map66731.0UniSTS
GeneMap99-GB4 RH Map6649.76UniSTS
Whitehead-RH Map6859.2UniSTS
NCBI RH Map61696.4UniSTS
GeneMap99-G3 RH Map67034.0UniSTS
D6S281  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map6q27UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map6q21-q22UniSTS
Marshfield Genetic Map6190.14UniSTS
Genethon Genetic Map6201.1UniSTS
deCODE Assembly Map6188.38UniSTS
Whitehead-RH Map6851.7UniSTS
Whitehead-YAC Contig Map6 UniSTS
D6S281  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map6q27UniSTS
TNG Radiation Hybrid Map685013.0UniSTS
GeneMap99-GB4 RH Map6648.15UniSTS
NCBI RH Map61674.5UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
1204 2433 2788 2245 4946 1723 2346 4 622 1948 464 2268 7282 6454 52 3712 847 1731 1613 171

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_046155 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001202550 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350623 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350624 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350625 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_182552 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_146875 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_146876 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011535682 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011535684 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011535685 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011535687 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011535688 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011535689 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011535690 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011535691 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011535692 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011535693 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011535694 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011535696 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011535697 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017010658 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017010659 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017010660 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017010662 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017010663 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017010664 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017010665 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017010666 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017010667 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017010668 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017010669 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017010670 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017010671 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017010672 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017010673 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047418584 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047418585 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047418586 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047418587 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047418588 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047418589 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047418590 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054355038 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054355039 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054355040 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054355041 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054355042 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054355043 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054355044 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054355045 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054355046 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054355047 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054355048 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054355049 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054355050 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054355051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054355052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054355053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054355054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054355055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007059230 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007059231 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007059233 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008487289 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008487290 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008487291 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK128656 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK131435 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293148 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL009176 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL031315 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL135910 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL441927 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL513547 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW194823 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC035289 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC040606 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC073148 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC131633 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC142982 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX648854 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB292377 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB457719 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF510271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OA988747 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000423258   ⟹   ENSP00000397869
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6169,457,355 - 169,701,586 (-)Ensembl
Ensembl Acc Id: ENST00000441385   ⟹   ENSP00000411915
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6169,647,648 - 169,660,692 (-)Ensembl
Ensembl Acc Id: ENST00000448612   ⟹   ENSP00000416289
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6169,457,212 - 169,702,029 (-)Ensembl
Ensembl Acc Id: ENST00000467418
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6169,657,759 - 169,663,723 (-)Ensembl
Ensembl Acc Id: ENST00000474018   ⟹   ENSP00000449696
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6169,672,322 - 169,702,048 (-)Ensembl
Ensembl Acc Id: ENST00000476322
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6169,664,177 - 169,665,092 (-)Ensembl
Ensembl Acc Id: ENST00000479310
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6169,457,212 - 169,649,233 (-)Ensembl
Ensembl Acc Id: ENST00000486490
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6169,662,367 - 169,666,658 (-)Ensembl
Ensembl Acc Id: ENST00000496752
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6169,664,286 - 169,670,693 (-)Ensembl
Ensembl Acc Id: ENST00000546525
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6169,558,321 - 169,667,275 (-)Ensembl
Ensembl Acc Id: ENST00000546953
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6169,669,521 - 169,701,653 (-)Ensembl
Ensembl Acc Id: ENST00000647790   ⟹   ENSP00000498206
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6169,457,624 - 169,702,067 (-)Ensembl
Ensembl Acc Id: ENST00000647873   ⟹   ENSP00000497692
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6169,657,762 - 169,702,054 (-)Ensembl
Ensembl Acc Id: ENST00000647889   ⟹   ENSP00000497364
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6169,657,794 - 169,701,939 (-)Ensembl
Ensembl Acc Id: ENST00000648017   ⟹   ENSP00000497622
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6169,660,706 - 169,702,029 (-)Ensembl
Ensembl Acc Id: ENST00000648472   ⟹   ENSP00000496961
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6169,457,216 - 169,702,021 (-)Ensembl
Ensembl Acc Id: ENST00000649303   ⟹   ENSP00000497180
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6169,657,780 - 169,701,930 (-)Ensembl
Ensembl Acc Id: ENST00000649806
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6169,670,357 - 169,701,854 (-)Ensembl
Ensembl Acc Id: ENST00000650296   ⟹   ENSP00000497675
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6169,666,918 - 169,702,037 (-)Ensembl
RefSeq Acc Id: NM_001202550   ⟹   NP_001189479
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386169,457,212 - 169,702,029 (-)NCBI
GRCh376169,857,303 - 170,102,159 (-)ENTREZGENE
HuRef6167,278,708 - 167,521,934 (-)ENTREZGENE
CHM1_16170,119,555 - 170,364,373 (-)NCBI
T2T-CHM13v2.06170,810,805 - 171,055,943 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001350623   ⟹   NP_001337552
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386169,457,212 - 169,702,029 (-)NCBI
T2T-CHM13v2.06170,810,805 - 171,055,943 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001350624   ⟹   NP_001337553
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386169,657,762 - 169,702,029 (-)NCBI
T2T-CHM13v2.06171,011,480 - 171,055,943 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001350625   ⟹   NP_001337554
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386169,657,762 - 169,702,029 (-)NCBI
T2T-CHM13v2.06171,011,480 - 171,055,943 (-)NCBI
Sequence:
RefSeq Acc Id: NM_182552   ⟹   NP_872358
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386169,457,212 - 169,702,029 (-)NCBI
GRCh376169,857,303 - 170,102,159 (-)ENTREZGENE
Build 366169,599,232 - 169,844,084 (-)NCBI Archive
Celera6170,567,481 - 170,812,344 (-)RGD
HuRef6167,278,708 - 167,521,934 (-)ENTREZGENE
CHM1_16170,119,555 - 170,364,373 (-)NCBI
T2T-CHM13v2.06170,810,805 - 171,055,943 (-)NCBI
Sequence:
RefSeq Acc Id: NR_146875
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386169,457,212 - 169,702,029 (-)NCBI
T2T-CHM13v2.06170,810,805 - 171,055,943 (-)NCBI
Sequence:
RefSeq Acc Id: NR_146876
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386169,657,762 - 169,702,029 (-)NCBI
T2T-CHM13v2.06171,011,480 - 171,055,943 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011535682   ⟹   XP_011533984
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386169,558,319 - 169,702,029 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011535684   ⟹   XP_011533986
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386169,581,095 - 169,702,029 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011535685   ⟹   XP_011533987
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386169,551,040 - 169,702,029 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011535687   ⟹   XP_011533989
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386169,426,420 - 169,702,029 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011535688   ⟹   XP_011533990
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386169,426,420 - 169,702,029 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011535691   ⟹   XP_011533993
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386169,457,212 - 169,702,029 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011535692   ⟹   XP_011533994
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386169,502,890 - 169,702,029 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011535693   ⟹   XP_011533995
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386169,618,643 - 169,702,029 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011535697   ⟹   XP_011533999
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386169,656,015 - 169,702,029 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017010660   ⟹   XP_016866149
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386169,457,212 - 169,702,029 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017010669   ⟹   XP_016866158
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386169,457,212 - 169,702,029 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017010672   ⟹   XP_016866161
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386169,639,555 - 169,702,029 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047418584   ⟹   XP_047274540
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386169,458,227 - 169,702,029 (-)NCBI
RefSeq Acc Id: XM_047418585   ⟹   XP_047274541
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386169,627,220 - 169,702,029 (-)NCBI
RefSeq Acc Id: XM_047418586   ⟹   XP_047274542
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386169,602,219 - 169,702,029 (-)NCBI
RefSeq Acc Id: XM_047418587   ⟹   XP_047274543
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386169,634,434 - 169,702,029 (-)NCBI
RefSeq Acc Id: XM_047418588   ⟹   XP_047274544
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386169,657,762 - 169,702,029 (-)NCBI
RefSeq Acc Id: XM_047418589   ⟹   XP_047274545
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386169,657,762 - 169,702,029 (-)NCBI
RefSeq Acc Id: XM_047418590   ⟹   XP_047274546
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386169,657,762 - 169,702,029 (-)NCBI
RefSeq Acc Id: XM_054355038   ⟹   XP_054211013
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.06170,912,009 - 171,055,943 (-)NCBI
RefSeq Acc Id: XM_054355039   ⟹   XP_054211014
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.06170,934,694 - 171,055,943 (-)NCBI
RefSeq Acc Id: XM_054355040   ⟹   XP_054211015
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.06170,811,832 - 171,055,943 (-)NCBI
RefSeq Acc Id: XM_054355041   ⟹   XP_054211016
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.06170,810,805 - 171,055,943 (-)NCBI
RefSeq Acc Id: XM_054355042   ⟹   XP_054211017
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.06170,780,064 - 171,055,943 (-)NCBI
RefSeq Acc Id: XM_054355043   ⟹   XP_054211018
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.06170,780,064 - 171,055,943 (-)NCBI
RefSeq Acc Id: XM_054355044   ⟹   XP_054211019
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.06170,810,805 - 171,055,943 (-)NCBI
RefSeq Acc Id: XM_054355045   ⟹   XP_054211020
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.06170,856,491 - 171,055,943 (-)NCBI
RefSeq Acc Id: XM_054355046   ⟹   XP_054211021
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.06170,972,375 - 171,055,943 (-)NCBI
RefSeq Acc Id: XM_054355047   ⟹   XP_054211022
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.06170,980,953 - 171,055,943 (-)NCBI
RefSeq Acc Id: XM_054355048   ⟹   XP_054211023
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.06170,955,944 - 171,055,943 (-)NCBI
RefSeq Acc Id: XM_054355049   ⟹   XP_054211024
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.06170,810,805 - 171,055,943 (-)NCBI
RefSeq Acc Id: XM_054355050   ⟹   XP_054211025
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.06170,988,171 - 171,055,943 (-)NCBI
RefSeq Acc Id: XM_054355051   ⟹   XP_054211026
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.06170,993,274 - 171,055,943 (-)NCBI
RefSeq Acc Id: XM_054355052   ⟹   XP_054211027
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.06171,011,480 - 171,055,943 (-)NCBI
RefSeq Acc Id: XM_054355053   ⟹   XP_054211028
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.06171,011,480 - 171,055,943 (-)NCBI
RefSeq Acc Id: XM_054355054   ⟹   XP_054211029
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.06171,011,480 - 171,055,943 (-)NCBI
RefSeq Acc Id: XM_054355055   ⟹   XP_054211030
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.06171,008,239 - 171,055,943 (-)NCBI
RefSeq Acc Id: XR_007059230
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386169,558,319 - 169,702,029 (-)NCBI
RefSeq Acc Id: XR_007059231
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386169,426,420 - 169,702,029 (-)NCBI
RefSeq Acc Id: XR_007059233
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386169,632,979 - 169,702,029 (-)NCBI
RefSeq Acc Id: XR_008487289
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.06170,912,009 - 171,055,943 (-)NCBI
RefSeq Acc Id: XR_008487290
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.06170,780,064 - 171,055,943 (-)NCBI
RefSeq Acc Id: XR_008487291
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.06170,986,716 - 171,055,943 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001189479 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337552 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337553 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337554 (Get FASTA)   NCBI Sequence Viewer  
  NP_872358 (Get FASTA)   NCBI Sequence Viewer  
  XP_011533984 (Get FASTA)   NCBI Sequence Viewer  
  XP_011533986 (Get FASTA)   NCBI Sequence Viewer  
  XP_011533987 (Get FASTA)   NCBI Sequence Viewer  
  XP_011533989 (Get FASTA)   NCBI Sequence Viewer  
  XP_011533990 (Get FASTA)   NCBI Sequence Viewer  
  XP_011533993 (Get FASTA)   NCBI Sequence Viewer  
  XP_011533994 (Get FASTA)   NCBI Sequence Viewer  
  XP_011533995 (Get FASTA)   NCBI Sequence Viewer  
  XP_011533999 (Get FASTA)   NCBI Sequence Viewer  
  XP_016866149 (Get FASTA)   NCBI Sequence Viewer  
  XP_016866158 (Get FASTA)   NCBI Sequence Viewer  
  XP_016866161 (Get FASTA)   NCBI Sequence Viewer  
  XP_047274540 (Get FASTA)   NCBI Sequence Viewer  
  XP_047274541 (Get FASTA)   NCBI Sequence Viewer  
  XP_047274542 (Get FASTA)   NCBI Sequence Viewer  
  XP_047274543 (Get FASTA)   NCBI Sequence Viewer  
  XP_047274544 (Get FASTA)   NCBI Sequence Viewer  
  XP_047274545 (Get FASTA)   NCBI Sequence Viewer  
  XP_047274546 (Get FASTA)   NCBI Sequence Viewer  
  XP_054211013 (Get FASTA)   NCBI Sequence Viewer  
  XP_054211014 (Get FASTA)   NCBI Sequence Viewer  
  XP_054211015 (Get FASTA)   NCBI Sequence Viewer  
  XP_054211016 (Get FASTA)   NCBI Sequence Viewer  
  XP_054211017 (Get FASTA)   NCBI Sequence Viewer  
  XP_054211018 (Get FASTA)   NCBI Sequence Viewer  
  XP_054211019 (Get FASTA)   NCBI Sequence Viewer  
  XP_054211020 (Get FASTA)   NCBI Sequence Viewer  
  XP_054211021 (Get FASTA)   NCBI Sequence Viewer  
  XP_054211022 (Get FASTA)   NCBI Sequence Viewer  
  XP_054211023 (Get FASTA)   NCBI Sequence Viewer  
  XP_054211024 (Get FASTA)   NCBI Sequence Viewer  
  XP_054211025 (Get FASTA)   NCBI Sequence Viewer  
  XP_054211026 (Get FASTA)   NCBI Sequence Viewer  
  XP_054211027 (Get FASTA)   NCBI Sequence Viewer  
  XP_054211028 (Get FASTA)   NCBI Sequence Viewer  
  XP_054211029 (Get FASTA)   NCBI Sequence Viewer  
  XP_054211030 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein A2RRH5 (Get FASTA)   NCBI Sequence Viewer  
  AAI31634 (Get FASTA)   NCBI Sequence Viewer  
  AAI42983 (Get FASTA)   NCBI Sequence Viewer  
  BAC87552 (Get FASTA)   NCBI Sequence Viewer  
  BAD18581 (Get FASTA)   NCBI Sequence Viewer  
  BAG56695 (Get FASTA)   NCBI Sequence Viewer  
  EAW47447 (Get FASTA)   NCBI Sequence Viewer  
  EAW47448 (Get FASTA)   NCBI Sequence Viewer  
  EAW47449 (Get FASTA)   NCBI Sequence Viewer  
  EAW47450 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000397869
  ENSP00000397869.1
  ENSP00000411915.2
  ENSP00000416289
  ENSP00000416289.1
  ENSP00000449696.1
  ENSP00000496961.1
  ENSP00000497180.1
  ENSP00000497364.1
  ENSP00000497622.1
  ENSP00000497675.1
  ENSP00000497692
  ENSP00000497692.1
  ENSP00000498206.1
RefSeq Acc Id: NP_872358   ⟸   NM_182552
- Peptide Label: isoform 1
- UniProtKB: Q5T066 (UniProtKB/Swiss-Prot),   C9JGV0 (UniProtKB/Swiss-Prot),   A5PLM8 (UniProtKB/Swiss-Prot),   A2RRH5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001189479   ⟸   NM_001202550
- Peptide Label: isoform 2
- UniProtKB: Q5T066 (UniProtKB/Swiss-Prot),   C9JGV0 (UniProtKB/Swiss-Prot),   A5PLM8 (UniProtKB/Swiss-Prot),   A2RRH5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011533990   ⟸   XM_011535688
- Peptide Label: isoform X6
- UniProtKB: Q5T066 (UniProtKB/Swiss-Prot),   C9JGV0 (UniProtKB/Swiss-Prot),   A5PLM8 (UniProtKB/Swiss-Prot),   A2RRH5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011533989   ⟸   XM_011535687
- Peptide Label: isoform X6
- UniProtKB: Q5T066 (UniProtKB/Swiss-Prot),   C9JGV0 (UniProtKB/Swiss-Prot),   A5PLM8 (UniProtKB/Swiss-Prot),   A2RRH5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011533993   ⟸   XM_011535691
- Peptide Label: isoform X7
- UniProtKB: Q5T066 (UniProtKB/Swiss-Prot),   C9JGV0 (UniProtKB/Swiss-Prot),   A5PLM8 (UniProtKB/Swiss-Prot),   A2RRH5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011533994   ⟸   XM_011535692
- Peptide Label: isoform X8
- UniProtKB: Q5T066 (UniProtKB/Swiss-Prot),   C9JGV0 (UniProtKB/Swiss-Prot),   A5PLM8 (UniProtKB/Swiss-Prot),   A2RRH5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011533987   ⟸   XM_011535685
- Peptide Label: isoform X4
- UniProtKB: Q5T066 (UniProtKB/Swiss-Prot),   C9JGV0 (UniProtKB/Swiss-Prot),   A5PLM8 (UniProtKB/Swiss-Prot),   A2RRH5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011533984   ⟸   XM_011535682
- Peptide Label: isoform X1
- UniProtKB: Q5T066 (UniProtKB/Swiss-Prot),   C9JGV0 (UniProtKB/Swiss-Prot),   A5PLM8 (UniProtKB/Swiss-Prot),   A2RRH5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011533986   ⟸   XM_011535684
- Peptide Label: isoform X2
- UniProtKB: Q5T066 (UniProtKB/Swiss-Prot),   C9JGV0 (UniProtKB/Swiss-Prot),   A5PLM8 (UniProtKB/Swiss-Prot),   A2RRH5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011533995   ⟸   XM_011535693
- Peptide Label: isoform X9
- UniProtKB: A5PLM8 (UniProtKB/Swiss-Prot),   A2RRH5 (UniProtKB/Swiss-Prot),   Q5T066 (UniProtKB/Swiss-Prot),   C9JGV0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011533999   ⟸   XM_011535697
- Peptide Label: isoform X17
- Sequence:
RefSeq Acc Id: XP_016866158   ⟸   XM_017010669
- Peptide Label: isoform X12
- UniProtKB: Q5T066 (UniProtKB/Swiss-Prot),   C9JGV0 (UniProtKB/Swiss-Prot),   A5PLM8 (UniProtKB/Swiss-Prot),   A2RRH5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016866149   ⟸   XM_017010660
- Peptide Label: isoform X5
- UniProtKB: Q5T066 (UniProtKB/Swiss-Prot),   C9JGV0 (UniProtKB/Swiss-Prot),   A5PLM8 (UniProtKB/Swiss-Prot),   A2RRH5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016866161   ⟸   XM_017010672
- Peptide Label: isoform X14
- Sequence:
RefSeq Acc Id: NP_001337552   ⟸   NM_001350623
- Peptide Label: isoform 3
- UniProtKB: Q5T066 (UniProtKB/Swiss-Prot),   C9JGV0 (UniProtKB/Swiss-Prot),   A5PLM8 (UniProtKB/Swiss-Prot),   A2RRH5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001337554   ⟸   NM_001350625
- Peptide Label: isoform 4
- UniProtKB: A0A3B3ITF5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001337553   ⟸   NM_001350624
- Peptide Label: isoform 4
- UniProtKB: A0A3B3ITF5 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000497622   ⟸   ENST00000648017
Ensembl Acc Id: ENSP00000496961   ⟸   ENST00000648472
Ensembl Acc Id: ENSP00000397869   ⟸   ENST00000423258
Ensembl Acc Id: ENSP00000497180   ⟸   ENST00000649303
Ensembl Acc Id: ENSP00000497675   ⟸   ENST00000650296
Ensembl Acc Id: ENSP00000411915   ⟸   ENST00000441385
Ensembl Acc Id: ENSP00000416289   ⟸   ENST00000448612
Ensembl Acc Id: ENSP00000449696   ⟸   ENST00000474018
Ensembl Acc Id: ENSP00000498206   ⟸   ENST00000647790
Ensembl Acc Id: ENSP00000497692   ⟸   ENST00000647873
Ensembl Acc Id: ENSP00000497364   ⟸   ENST00000647889
RefSeq Acc Id: XP_047274540   ⟸   XM_047418584
- Peptide Label: isoform X3
- UniProtKB: Q5T066 (UniProtKB/Swiss-Prot),   C9JGV0 (UniProtKB/Swiss-Prot),   A5PLM8 (UniProtKB/Swiss-Prot),   A2RRH5 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047274542   ⟸   XM_047418586
- Peptide Label: isoform X11
- UniProtKB: Q5T066 (UniProtKB/Swiss-Prot),   C9JGV0 (UniProtKB/Swiss-Prot),   A5PLM8 (UniProtKB/Swiss-Prot),   A2RRH5 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047274541   ⟸   XM_047418585
- Peptide Label: isoform X10
- UniProtKB: Q5T066 (UniProtKB/Swiss-Prot),   C9JGV0 (UniProtKB/Swiss-Prot),   A5PLM8 (UniProtKB/Swiss-Prot),   A2RRH5 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047274543   ⟸   XM_047418587
- Peptide Label: isoform X13
RefSeq Acc Id: XP_047274546   ⟸   XM_047418590
- Peptide Label: isoform X16
RefSeq Acc Id: XP_047274544   ⟸   XM_047418588
- Peptide Label: isoform X15
RefSeq Acc Id: XP_047274545   ⟸   XM_047418589
- Peptide Label: isoform X16
RefSeq Acc Id: XP_054211018   ⟸   XM_054355043
- Peptide Label: isoform X6
- UniProtKB: Q5T066 (UniProtKB/Swiss-Prot),   C9JGV0 (UniProtKB/Swiss-Prot),   A5PLM8 (UniProtKB/Swiss-Prot),   A2RRH5 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054211017   ⟸   XM_054355042
- Peptide Label: isoform X6
- UniProtKB: Q5T066 (UniProtKB/Swiss-Prot),   C9JGV0 (UniProtKB/Swiss-Prot),   A5PLM8 (UniProtKB/Swiss-Prot),   A2RRH5 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054211024   ⟸   XM_054355049
- Peptide Label: isoform X12
- UniProtKB: Q5T066 (UniProtKB/Swiss-Prot),   C9JGV0 (UniProtKB/Swiss-Prot),   A5PLM8 (UniProtKB/Swiss-Prot),   A2RRH5 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054211016   ⟸   XM_054355041
- Peptide Label: isoform X5
- UniProtKB: Q5T066 (UniProtKB/Swiss-Prot),   C9JGV0 (UniProtKB/Swiss-Prot),   A5PLM8 (UniProtKB/Swiss-Prot),   A2RRH5 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054211019   ⟸   XM_054355044
- Peptide Label: isoform X7
- UniProtKB: Q5T066 (UniProtKB/Swiss-Prot),   C9JGV0 (UniProtKB/Swiss-Prot),   A5PLM8 (UniProtKB/Swiss-Prot),   A2RRH5 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054211015   ⟸   XM_054355040
- Peptide Label: isoform X3
- UniProtKB: Q5T066 (UniProtKB/Swiss-Prot),   C9JGV0 (UniProtKB/Swiss-Prot),   A5PLM8 (UniProtKB/Swiss-Prot),   A2RRH5 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054211020   ⟸   XM_054355045
- Peptide Label: isoform X8
- UniProtKB: Q5T066 (UniProtKB/Swiss-Prot),   C9JGV0 (UniProtKB/Swiss-Prot),   A5PLM8 (UniProtKB/Swiss-Prot),   A2RRH5 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054211013   ⟸   XM_054355038
- Peptide Label: isoform X1
- UniProtKB: Q5T066 (UniProtKB/Swiss-Prot),   C9JGV0 (UniProtKB/Swiss-Prot),   A5PLM8 (UniProtKB/Swiss-Prot),   A2RRH5 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054211014   ⟸   XM_054355039
- Peptide Label: isoform X2
- UniProtKB: Q5T066 (UniProtKB/Swiss-Prot),   C9JGV0 (UniProtKB/Swiss-Prot),   A5PLM8 (UniProtKB/Swiss-Prot),   A2RRH5 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054211023   ⟸   XM_054355048
- Peptide Label: isoform X11
- UniProtKB: Q5T066 (UniProtKB/Swiss-Prot),   C9JGV0 (UniProtKB/Swiss-Prot),   A5PLM8 (UniProtKB/Swiss-Prot),   A2RRH5 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054211021   ⟸   XM_054355046
- Peptide Label: isoform X9
- UniProtKB: Q5T066 (UniProtKB/Swiss-Prot),   C9JGV0 (UniProtKB/Swiss-Prot),   A5PLM8 (UniProtKB/Swiss-Prot),   A2RRH5 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054211022   ⟸   XM_054355047
- Peptide Label: isoform X10
- UniProtKB: Q5T066 (UniProtKB/Swiss-Prot),   C9JGV0 (UniProtKB/Swiss-Prot),   A5PLM8 (UniProtKB/Swiss-Prot),   A2RRH5 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054211025   ⟸   XM_054355050
- Peptide Label: isoform X13
RefSeq Acc Id: XP_054211026   ⟸   XM_054355051
- Peptide Label: isoform X14
RefSeq Acc Id: XP_054211030   ⟸   XM_054355055
- Peptide Label: isoform X17
RefSeq Acc Id: XP_054211029   ⟸   XM_054355054
- Peptide Label: isoform X16
RefSeq Acc Id: XP_054211027   ⟸   XM_054355052
- Peptide Label: isoform X15
RefSeq Acc Id: XP_054211028   ⟸   XM_054355053
- Peptide Label: isoform X16

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-A2RRH5-F1-model_v2 AlphaFold A2RRH5 1-827 view protein structure

Promoters
RGD ID:7209691
Promoter ID:EPDNEW_H10591
Type:initiation region
Name:WDR27_3
Description:WD repeat domain 27
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H10592  EPDNEW_H10593  EPDNEW_H10594  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh386169,701,612 - 169,701,672EPDNEW
RGD ID:7209693
Promoter ID:EPDNEW_H10592
Type:initiation region
Name:WDR27_4
Description:WD repeat domain 27
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H10591  EPDNEW_H10593  EPDNEW_H10594  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh386169,701,720 - 169,701,780EPDNEW
RGD ID:7209695
Promoter ID:EPDNEW_H10593
Type:initiation region
Name:WDR27_1
Description:WD repeat domain 27
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H10591  EPDNEW_H10592  EPDNEW_H10594  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh386169,702,029 - 169,702,089EPDNEW
RGD ID:7209697
Promoter ID:EPDNEW_H10594
Type:initiation region
Name:WDR27_2
Description:WD repeat domain 27
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H10591  EPDNEW_H10592  EPDNEW_H10593  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh386169,702,746 - 169,702,806EPDNEW
RGD ID:6804107
Promoter ID:HG_KWN:55844
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:ENST00000401031,   NM_182552,   OTTHUMT00000043227,   OTTHUMT00000043228,   UC003QWX.2,   UC003QWY.2,   UC010KKX.1
Position:
Human AssemblyChrPosition (strand)Source
Build 366169,844,001 - 169,844,897 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:21248 AgrOrtholog
COSMIC WDR27 COSMIC
Ensembl Genes ENSG00000184465 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000423258 ENTREZGENE
  ENST00000423258.5 UniProtKB/Swiss-Prot
  ENST00000441385.2 UniProtKB/TrEMBL
  ENST00000448612 ENTREZGENE
  ENST00000448612.6 UniProtKB/Swiss-Prot
  ENST00000474018.1 UniProtKB/TrEMBL
  ENST00000647790.1 UniProtKB/TrEMBL
  ENST00000647873 ENTREZGENE
  ENST00000647873.1 UniProtKB/TrEMBL
  ENST00000647889.1 UniProtKB/TrEMBL
  ENST00000648017.1 UniProtKB/TrEMBL
  ENST00000648472 ENTREZGENE
  ENST00000648472.1 UniProtKB/TrEMBL
  ENST00000649303 ENTREZGENE
  ENST00000649303.1 UniProtKB/TrEMBL
  ENST00000650296.1 UniProtKB/TrEMBL
Gene3D-CATH 2.130.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000184465 GTEx
HGNC ID HGNC:21248 ENTREZGENE
Human Proteome Map WDR27 Human Proteome Map
InterPro Quinoprotein_ADH-like_supfam UniProtKB/Swiss-Prot
  WD40/YVTN_repeat-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40_repeat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40_repeat_dom_sf UniProtKB/TrEMBL
  WDR27 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:253769 UniProtKB/Swiss-Prot
NCBI Gene WDR27 ENTREZGENE
OMIM 620936 OMIM
PANTHER PTHR44525 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD REPEAT-CONTAINING PROTEIN 27 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam WD40 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134875091 PharmGKB
PROSITE WD_REPEATS_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD_REPEATS_REGION UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART WD40 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF50978 UniProtKB/TrEMBL
  SSF50998 UniProtKB/Swiss-Prot
UniProt A0A3B3IRT0_HUMAN UniProtKB/TrEMBL
  A0A3B3IS64_HUMAN UniProtKB/TrEMBL
  A0A3B3ISN9_HUMAN UniProtKB/TrEMBL
  A0A3B3IT90_HUMAN UniProtKB/TrEMBL
  A0A3B3ITF5 ENTREZGENE, UniProtKB/TrEMBL
  A2RRH5 ENTREZGENE
  A5PLM8 ENTREZGENE
  B4DDD4_HUMAN UniProtKB/TrEMBL
  C9JGV0 ENTREZGENE
  F8VUY7_HUMAN UniProtKB/TrEMBL
  H7C3H5_HUMAN UniProtKB/TrEMBL
  Q5T066 ENTREZGENE
  WDR27_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary A5PLM8 UniProtKB/Swiss-Prot
  C9JGV0 UniProtKB/Swiss-Prot
  Q5T066 UniProtKB/Swiss-Prot