MIR301B (microRNA 301b) - Rat Genome Database

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Gene: MIR301B (microRNA 301b) Homo sapiens
Analyze
Symbol: MIR301B
Name: microRNA 301b
RGD ID: 2290237
HGNC Page HGNC:33667
Description: Enables mRNA base-pairing post-transcriptional repressor activity. Involved in lipoprotein transport; miRNA-mediated gene silencing; and negative regulation of cholesterol efflux.
Type: ncrna
RefSeq Status: PROVISIONAL
Previously known as: mir-301b; MIRN301B
RGD Orthologs
Mouse
Rat
Dog
Pig
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382221,652,981 - 21,653,058 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl2221,652,981 - 21,653,058 (+)EnsemblGRCh38hg38GRCh38
GRCh372222,007,270 - 22,007,347 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362220,337,269 - 20,337,346 (+)NCBINCBI36hg18NCBI36
Celera225,824,810 - 5,824,887 (+)NCBI
Cytogenetic Map22q11.21NCBI
HuRef224,965,094 - 4,965,171 (+)NCBIHuRef
CHM1_12222,007,462 - 22,007,539 (+)NCBICHM1_1
T2T-CHM13v2.02222,066,472 - 22,066,549 (+)NCBI
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
Gene Ontology Annotations     Click to see Annotation Detail View

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:16381832   PMID:16954537   PMID:17604727   PMID:20470754   PMID:21037258   PMID:24398967   PMID:25505270   PMID:26191271   PMID:26501192   PMID:26813459   PMID:27197190   PMID:27352910  
PMID:28166834   PMID:28442776   PMID:29317318   PMID:30269739   PMID:30834603   PMID:30951720   PMID:31207037   PMID:31442444   PMID:31585814   PMID:32643846   PMID:32737801   PMID:32748357  
PMID:33063403   PMID:33273694   PMID:33754907   PMID:34281560   PMID:34369713   PMID:34488545   PMID:34933019  


Genomics

Comparative Map Data
MIR301B
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382221,652,981 - 21,653,058 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl2221,652,981 - 21,653,058 (+)EnsemblGRCh38hg38GRCh38
GRCh372222,007,270 - 22,007,347 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362220,337,269 - 20,337,346 (+)NCBINCBI36hg18NCBI36
Celera225,824,810 - 5,824,887 (+)NCBI
Cytogenetic Map22q11.21NCBI
HuRef224,965,094 - 4,965,171 (+)NCBIHuRef
CHM1_12222,007,462 - 22,007,539 (+)NCBICHM1_1
T2T-CHM13v2.02222,066,472 - 22,066,549 (+)NCBI
Mir301b
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391616,942,264 - 16,942,360 (-)NCBIGRCm39mm39
GRCm39 Ensembl1616,942,264 - 16,942,360 (-)Ensembl
GRCm381617,124,400 - 17,124,496 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1617,124,400 - 17,124,496 (-)EnsemblGRCm38mm10GRCm38
MGSCv371617,124,493 - 17,124,589 (-)NCBIGRCm37mm9NCBIm37
Celera1617,697,194 - 17,697,290 (-)NCBICelera
Cytogenetic Map16A3NCBI
Mir301b
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21183,879,816 - 83,879,893 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl1183,879,816 - 83,879,893 (+)Ensembl
Rnor_6.01188,129,426 - 88,129,503 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1188,129,426 - 88,129,503 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01191,181,973 - 91,182,050 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera1182,635,547 - 82,635,624 (+)NCBICelera
Cytogenetic Map11q23NCBI
MIR301B
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12630,924,103 - 30,924,178 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2630,924,103 - 30,924,178 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2630,881,301 - 30,881,376 (+)NCBI
ROS_Cfam_1.02632,329,837 - 32,329,912 (+)NCBI
UMICH_Zoey_3.12630,379,140 - 30,379,215 (+)NCBI
UNSW_CanFamBas_1.02630,002,840 - 30,002,915 (+)NCBI
UU_Cfam_GSD_1.02631,092,810 - 31,092,885 (+)NCBI
MIR130B
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1450,245,041 - 50,245,120 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11450,245,041 - 50,245,120 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21453,695,562 - 53,695,641 (-)NCBISscrofa10.2Sscrofa10.2susScr3

miRNA Target Status

Confirmed Targets
Gene TargetMature miRNAMethod NameResult TypeData TypeSupport TypePMID
DNMT1hsa-miR-301bMirtarbaseexternal_infoLuciferase reporter assayNon-Functional MTI20146264
OXA1Lhsa-miR-301bMirtarbaseexternal_infoCLASHFunctional MTI (Weak)23622248

Predicted Targets
Summary Value
Count of predictions:16574
Count of gene targets:6690
Count of transcripts:12719
Interacting mature miRNAs:hsa-miR-301b
Prediction methods:Microtar, Miranda, Pita, 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.


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 appendage entire extraembryonic component
High
Medium
Low 17 1 13 3 99 5 43 22 42 6 39 41 5 3
Below cutoff 15 5 2 4 19 1 8 8 13 8 18 10 3 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000390813
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2221,652,981 - 21,653,058 (+)Ensembl
RefSeq Acc Id: NR_030622
RefSeq Status: PROVISIONAL
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382221,652,981 - 21,653,058 (+)NCBI
GRCh372222,007,270 - 22,007,347 (+)RGD
Celera225,824,810 - 5,824,887 (+)RGD
HuRef224,965,094 - 4,965,171 (+)RGD
CHM1_12222,007,462 - 22,007,539 (+)NCBI
T2T-CHM13v2.02222,066,472 - 22,066,549 (+)NCBI
Sequence:
Promoters
RGD ID:6799961
Promoter ID:HG_KWN:41773
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid
Transcripts:ENST00000390813
Position:
Human AssemblyChrPosition (strand)Source
Build 362220,336,201 - 20,336,701 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3 copy number gain See cases [RCV000133646] Chr22:16916608..50739836 [GRCh38]
Chr22:17397498..51178264 [GRCh37]
Chr22:15777498..49525130 [NCBI36]
Chr22:22q11.1-13.33		 pathogenic
GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3 copy number gain See cases [RCV000134730] Chr22:16916743..50739785 [GRCh38]
Chr22:17397633..51178213 [GRCh37]
Chr22:15777633..49525079 [NCBI36]
Chr22:22q11.1-13.33		 pathogenic
GRCh38/hg38 22q11.21-11.22(chr22:21583391-21832041)x3 copy number gain See cases [RCV000134516] Chr22:21583391..21832041 [GRCh38]
Chr22:21937680..22186330 [GRCh37]
Chr22:20267680..20516330 [NCBI36]
Chr22:22q11.21-11.22		 uncertain significance
GRCh38/hg38 22q11.21-11.22(chr22:20671366-22088366)x3 copy number gain See cases [RCV000134888] Chr22:20671366..22088366 [GRCh38]
Chr22:21025654..22442778 [GRCh37]
Chr22:19355654..20772778 [NCBI36]
Chr22:22q11.21-11.22		 uncertain significance
GRCh38/hg38 22q11.21-11.23(chr22:21454661-23414686)x1 copy number loss See cases [RCV000135739] Chr22:21454661..23414686 [GRCh38]
Chr22:21808950..23756873 [GRCh37]
Chr22:20138950..22086873 [NCBI36]
Chr22:22q11.21-11.23		 pathogenic
GRCh38/hg38 22q11.21-11.22(chr22:21454649-22562620)x3 copy number gain See cases [RCV000136016] Chr22:21454649..22562620 [GRCh38]
Chr22:21808938..22905025 [GRCh37]
Chr22:20138938..21235025 [NCBI36]
Chr22:22q11.21-11.22		 pathogenic|uncertain significance
GRCh38/hg38 22q11.21-11.22(chr22:21454649-22562620)x1 copy number loss See cases [RCV000136017] Chr22:21454649..22562620 [GRCh38]
Chr22:21808938..22905025 [GRCh37]
Chr22:20138938..21235025 [NCBI36]
Chr22:22q11.21-11.22		 pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:20726972-24197852)x1 copy number loss See cases [RCV000136889] Chr22:20726972..24197852 [GRCh38]
Chr22:21081260..24593820 [GRCh37]
Chr22:19411260..22923820 [NCBI36]
Chr22:22q11.21-11.23		 pathogenic
GRCh38/hg38 22q11.21-11.22(chr22:21444416-22574173)x1 copy number loss See cases [RCV000136776] Chr22:21444416..22574173 [GRCh38]
Chr22:21798705..22916612 [GRCh37]
Chr22:20128705..21246612 [NCBI36]
Chr22:22q11.21-11.22		 pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:21454661-24247140)x1 copy number loss See cases [RCV000137685] Chr22:21454661..24247140 [GRCh38]
Chr22:21808950..24643108 [GRCh37]
Chr22:20138950..22973108 [NCBI36]
Chr22:22q11.21-11.23		 pathogenic
GRCh38/hg38 22q11.21-11.22(chr22:21151069-22617194)x3 copy number gain See cases [RCV000137493] Chr22:21151069..22617194 [GRCh38]
Chr22:21505358..22959664 [GRCh37]
Chr22:19835358..21289664 [NCBI36]
Chr22:22q11.21-11.22		 uncertain significance
GRCh38/hg38 22q11.21-11.22(chr22:21151069-22617194)x1 copy number loss See cases [RCV000137494] Chr22:21151069..22617194 [GRCh38]
Chr22:21505358..22959664 [GRCh37]
Chr22:19835358..21289664 [NCBI36]
Chr22:22q11.21-11.22		 pathogenic
GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3 copy number gain See cases [RCV000137926] Chr22:20907226..37187347 [GRCh38]
Chr22:21261514..37583387 [GRCh37]
Chr22:19591514..35913333 [NCBI36]
Chr22:22q11.21-12.3		 pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:21454661-23312035)x1 copy number loss See cases [RCV000137767] Chr22:21454661..23312035 [GRCh38]
Chr22:21808950..23654222 [GRCh37]
Chr22:20138950..21984222 [NCBI36]
Chr22:22q11.21-11.23		 pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:21207181-24247140)x3 copy number gain See cases [RCV000138673] Chr22:21207181..24247140 [GRCh38]
Chr22:21561470..24643108 [GRCh37]
Chr22:19891470..22973108 [NCBI36]
Chr22:22q11.21-11.23		 uncertain significance
GRCh38/hg38 22q11.21-11.22(chr22:18178932-22562620)x3 copy number gain See cases [RCV000139316] Chr22:18178932..22562620 [GRCh38]
Chr22:18661699..22905025 [GRCh37]
Chr22:17041699..21235025 [NCBI36]
Chr22:22q11.21-11.22		 pathogenic
GRCh38/hg38 22q11.21-11.22(chr22:21151097-22562620)x1 copy number loss See cases [RCV000139333] Chr22:21151097..22562620 [GRCh38]
Chr22:21505386..22905025 [GRCh37]
Chr22:19835386..21235025 [NCBI36]
Chr22:22q11.21-11.22		 pathogenic
GRCh38/hg38 22q11.21-11.22(chr22:21583391-22647760)x3 copy number gain See cases [RCV000140091] Chr22:21583391..22647760 [GRCh38]
Chr22:21937680..22990230 [GRCh37]
Chr22:20267680..21320230 [NCBI36]
Chr22:22q11.21-11.22		 pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:18339130-23480799)x1 copy number loss See cases [RCV000141233] Chr22:18339130..23480799 [GRCh38]
Chr22:20279766..23822986 [GRCh37]
Chr22:18659766..22152986 [NCBI36]
Chr22:22q11.21-11.23		 pathogenic
GRCh38/hg38 22q11.21-11.22(chr22:21447344-22655838)x1 copy number loss See cases [RCV000141561] Chr22:21447344..22655838 [GRCh38]
Chr22:21801633..22998308 [GRCh37]
Chr22:20131633..21328308 [NCBI36]
Chr22:22q11.21-11.22		 pathogenic
GRCh38/hg38 22q11.21-11.22(chr22:21151069-22489199)x3 copy number gain See cases [RCV000142677] Chr22:21151069..22489199 [GRCh38]
Chr22:21505358..22843524 [GRCh37]
Chr22:19835358..21173524 [NCBI36]
Chr22:22q11.21-11.22		 uncertain significance
GRCh38/hg38 22q11.21-11.22(chr22:21454661-22617194)x1 copy number loss See cases [RCV000143267] Chr22:21454661..22617194 [GRCh38]
Chr22:21808950..22959664 [GRCh37]
Chr22:20138950..21289664 [NCBI36]
Chr22:22q11.21-11.22		 pathogenic|uncertain significance|conflicting data from submitters
GRCh38/hg38 22q11.21-11.23(chr22:21454661-23414686)x3 copy number gain See cases [RCV000148078] Chr22:21454661..23414686 [GRCh38]
Chr22:21808950..23756873 [GRCh37]
Chr22:20138950..22086873 [NCBI36]
Chr22:22q11.21-11.23		 uncertain significance
GRCh38/hg38 22q11.21-11.22(chr22:21454661-22562663)x1 copy number loss See cases [RCV000148145] Chr22:21454661..22562663 [GRCh38]
Chr22:21808950..22905068 [GRCh37]
Chr22:20138950..21235068 [NCBI36]
Chr22:22q11.21-11.22		 pathogenic
GRCh38/hg38 22q11.21-11.22(chr22:21151069-22562663)x1 copy number loss See cases [RCV000051017] Chr22:21151069..22562663 [GRCh38]
Chr22:21505358..22905068 [GRCh37]
Chr22:19835358..21235068 [NCBI36]
Chr22:22q11.21-11.22		 pathogenic
GRCh38/hg38 22q11.21-11.22(chr22:20671366-22046408)x3 copy number gain See cases [RCV000050932] Chr22:20671366..22046408 [GRCh38]
Chr22:21025654..22400806 [GRCh37]
Chr22:19355654..20730806 [NCBI36]
Chr22:22q11.21-11.22		 pathogenic
GRCh38/hg38 22q11.21-12.3(chr22:18178957-31821193)x3 copy number gain See cases [RCV000050768] Chr22:18178957..31821193 [GRCh38]
Chr22:18661724..32217179 [GRCh37]
Chr22:17041724..30547179 [NCBI36]
Chr22:22q11.21-12.3		 pathogenic
GRCh38/hg38 22q11.21-11.22(chr22:20668552-22358488)x3 copy number gain See cases [RCV000051961] Chr22:20668552..22358488 [GRCh38]
Chr22:21022840..22712836 [GRCh37]
Chr22:19352840..21042836 [NCBI36]
Chr22:22q11.21-11.22		 pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:20726772-23135971)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053061]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053061]|See cases [RCV000053061] Chr22:20726772..23135971 [GRCh38]
Chr22:21081060..23478158 [GRCh37]
Chr22:19411060..21808158 [NCBI36]
Chr22:22q11.21-11.23		 pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:21443815-24235645)x1 copy number loss See cases [RCV000053074] Chr22:21443815..24235645 [GRCh38]
Chr22:21798104..24631613 [GRCh37]
Chr22:20128104..22961613 [NCBI36]
Chr22:22q11.21-11.23		 pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:21443815-23397298)x1 copy number loss See cases [RCV000053075] Chr22:21443815..23397298 [GRCh38]
Chr22:21798104..23739485 [GRCh37]
Chr22:20128104..22069485 [NCBI36]
Chr22:22q11.21-11.23		 pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:21454461-24247296)x1 copy number loss See cases [RCV000053077] Chr22:21454461..24247296 [GRCh38]
Chr22:21808750..24643264 [GRCh37]
Chr22:20138750..22973264 [NCBI36]
Chr22:22q11.21-11.23		 pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:21454661-24289119)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053079]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053079]|See cases [RCV000053079] Chr22:21454661..24289119 [GRCh38]
Chr22:21808950..24685087 [GRCh37]
Chr22:20138950..23015087 [NCBI36]
Chr22:22q11.21-11.23		 pathogenic
GRCh38/hg38 22q11.21-11.22(chr22:21454661-22562663)x1 copy number loss See cases [RCV000053082] Chr22:21454661..22562663 [GRCh38]
Chr22:21808950..22905068 [GRCh37]
Chr22:20138950..21235068 [NCBI36]
Chr22:22q11.21-11.22		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 22q11.21-11.23(chr22:21454661-24197852)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053084]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053084]|See cases [RCV000053084] Chr22:21454661..24197852 [GRCh38]
Chr22:21808950..24593820 [GRCh37]
Chr22:20138950..22923820 [NCBI36]
Chr22:22q11.21-11.23		 pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:21454661-23301036)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053085]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053085]|See cases [RCV000053085] Chr22:21454661..23301036 [GRCh38]
Chr22:21808950..23643223 [GRCh37]
Chr22:20138950..21973223 [NCBI36]
Chr22:22q11.21-11.23		 pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:21457690-24220231)x1 copy number loss See cases [RCV000053087] Chr22:21457690..24220231 [GRCh38]
Chr22:21811979..24616199 [GRCh37]
Chr22:20141979..22946199 [NCBI36]
Chr22:22q11.21-11.23		 pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:21562911-24307688)x1 copy number loss See cases [RCV000053090] Chr22:21562911..24307688 [GRCh38]
Chr22:21917200..24703656 [GRCh37]
Chr22:20247200..23033656 [NCBI36]
Chr22:22q11.21-11.23		 pathogenic
GRCh38/hg38 22q11.1-11.23(chr22:16916608-24358936)x3 copy number gain See cases [RCV000053104] Chr22:16916608..24358936 [GRCh38]
Chr22:17397498..24754904 [GRCh37]
Chr22:15777498..23084904 [NCBI36]
Chr22:22q11.1-11.23		 pathogenic
GRCh38/hg38 22q11.21-11.22(chr22:21623411-22617259)x1 copy number loss See cases [RCV000053107] Chr22:21623411..22617259 [GRCh38]
Chr22:21977700..22959729 [GRCh37]
Chr22:20307700..21289729 [NCBI36]
Chr22:22q11.21-11.22		 pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:21623411-23315617)x1 copy number loss See cases [RCV000053108] Chr22:21623411..23315617 [GRCh38]
Chr22:21977700..23657804 [GRCh37]
Chr22:20307700..21987804 [NCBI36]
Chr22:22q11.21-11.23		 pathogenic
GRCh38/hg38 22q11.21-11.22(chr22:21150869-22562804)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053157]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053157]|See cases [RCV000053157] Chr22:21150869..22562804 [GRCh38]
Chr22:21505158..22905209 [GRCh37]
Chr22:19835158..21235209 [NCBI36]
Chr22:22q11.21-11.22		 uncertain significance
GRCh38/hg38 22q11.21-11.23(chr22:21386914-23305976)x3 copy number gain See cases [RCV000053158] Chr22:21386914..23305976 [GRCh38]
Chr22:21741203..23648163 [GRCh37]
Chr22:20071203..21978163 [NCBI36]
Chr22:22q11.21-11.23		 pathogenic|uncertain significance
GRCh38/hg38 22q11.21-11.23(chr22:21454661-23414686)x3 copy number gain See cases [RCV000053159] Chr22:21454661..23414686 [GRCh38]
Chr22:21808950..23756873 [GRCh37]
Chr22:20138950..22086873 [NCBI36]
Chr22:22q11.21-11.23		 pathogenic|uncertain significance|conflicting data from submitters
GRCh38/hg38 22q11.21-11.22(chr22:21623411-22651271)x3 copy number gain See cases [RCV000053160] Chr22:21623411..22651271 [GRCh38]
Chr22:21977700..22993741 [GRCh37]
Chr22:20307700..21323741 [NCBI36]
Chr22:22q11.21-11.22		 pathogenic|uncertain significance
GRCh38/hg38 22q11.21-11.22(chr22:21603122-22562663)x1 copy number loss See cases [RCV000051147] Chr22:21603122..22562663 [GRCh38]
Chr22:21957411..22905068 [GRCh37]
Chr22:20287411..21235068 [NCBI36]
Chr22:22q11.21-11.22		 pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:33667 AgrOrtholog
COSMIC MIR301B COSMIC
Ensembl Genes ENSG00000212102 Ensembl, ENTREZGENE
Ensembl Transcript ENST00000390813 ENTREZGENE
GTEx ENSG00000212102 GTEx
HGNC ID HGNC:33667 ENTREZGENE
Human Proteome Map MIR301B Human Proteome Map
miRBase MI0005568 ENTREZGENE
NCBI Gene 100126318 ENTREZGENE
PharmGKB PA164722634 PharmGKB
RNAcentral URS0000251D0B RNACentral
  URS000075A590 RNACentral
  URS000076F524 RNACentral