MIR148A (microRNA 148a) - Rat Genome Database

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Gene: MIR148A (microRNA 148a) Homo sapiens
Analyze
Symbol: MIR148A
Name: microRNA 148a
RGD ID: 1346027
HGNC Page HGNC:31535
Description: Enables mRNA base-pairing post-transcriptional repressor activity. Involved in several processes, including cholesterol homeostasis; miRNA-mediated gene silencing by inhibition of translation; and negative regulation of transport. Located in extracellular space. Part of extracellular vesicle.
Type: ncrna
RefSeq Status: PROVISIONAL
Previously known as: hsa-mir-148; mir-148a; MIRN148; MIRN148A
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
GRCh38725,949,919 - 25,949,986 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl725,949,919 - 25,949,986 (-)EnsemblGRCh38hg38GRCh38
GRCh37725,989,539 - 25,989,606 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36725,956,063 - 25,956,130 (-)NCBINCBI36hg18NCBI36
Celera725,978,394 - 25,978,461 (-)NCBI
Cytogenetic Map7p15.2NCBI
HuRef725,877,181 - 25,877,242 (-)NCBIHuRef
CHM1_1725,991,141 - 25,991,208 (-)NCBICHM1_1
T2T-CHM13v2.0726,085,385 - 26,085,452 (-)NCBI
CRA_TCAGchr7v2726,040,542 - 26,040,609 (-)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12007417   PMID:15978578   PMID:16381832   PMID:17604727   PMID:18268015   PMID:20406806   PMID:20483747   PMID:20628822   PMID:20644734   PMID:20820187   PMID:21037258   PMID:21081659  
PMID:21168126   PMID:21327300   PMID:21455217   PMID:21499264   PMID:21552422   PMID:21971665   PMID:21994419   PMID:22167392   PMID:22408438   PMID:22438923   PMID:22496917   PMID:22890324  
PMID:22935141   PMID:23056401   PMID:23225151   PMID:23321675   PMID:23383211   PMID:23389829   PMID:23527115   PMID:23532995   PMID:23549984   PMID:23583978   PMID:23670799   PMID:23843100  
PMID:23861222   PMID:23869555   PMID:23873106   PMID:23965969   PMID:23975374   PMID:24013226   PMID:24084367   PMID:24097068   PMID:24203893   PMID:24248364   PMID:24269634   PMID:24283384  
PMID:24425048   PMID:24515776   PMID:24659367   PMID:24714841   PMID:24798342   PMID:24806207   PMID:24895996   PMID:25063027   PMID:25185654   PMID:25219837   PMID:25224277   PMID:25261463  
PMID:25271001   PMID:25277193   PMID:25328136   PMID:25399950   PMID:25444499   PMID:25501703   PMID:25537514   PMID:25630970   PMID:25678371   PMID:25703326   PMID:25865490   PMID:25903473  
PMID:25904302   PMID:25928008   PMID:25928282   PMID:25950085   PMID:25950983   PMID:25971746   PMID:26001136   PMID:26124099   PMID:26170028   PMID:26253263   PMID:26298724   PMID:26389729  
PMID:26431739   PMID:26437365   PMID:26501192   PMID:26516227   PMID:26527284   PMID:26531720   PMID:26575977   PMID:26584284   PMID:26599259   PMID:26638007   PMID:26646931   PMID:26700670  
PMID:26707142   PMID:26791485   PMID:26872375   PMID:26967387   PMID:26983401   PMID:27041566   PMID:27191822   PMID:27292025   PMID:27461630   PMID:27470550   PMID:27505319   PMID:27518872  
PMID:27529338   PMID:27574106   PMID:27591428   PMID:27779717   PMID:27842905   PMID:27859417   PMID:27878305   PMID:27883285   PMID:27906180   PMID:28043146   PMID:28063929   PMID:28098870  
PMID:28117029   PMID:28199399   PMID:28261609   PMID:28430743   PMID:28445981   PMID:28464803   PMID:28472596   PMID:28549102   PMID:28574848   PMID:28575098   PMID:28586066   PMID:28656724  
PMID:28798470   PMID:28863773   PMID:28879530   PMID:28880997   PMID:28901486   PMID:28965855   PMID:28978904   PMID:29596883   PMID:29660218   PMID:29749452   PMID:29807011   PMID:29845209  
PMID:30160020   PMID:30221381   PMID:30226601   PMID:30320905   PMID:30362572   PMID:30451334   PMID:30510209   PMID:30536836   PMID:30551544   PMID:30565389   PMID:30627542   PMID:30720097  
PMID:30728365   PMID:30735457   PMID:30824368   PMID:30834693   PMID:30865310   PMID:30951707   PMID:30982493   PMID:30997628   PMID:31104329   PMID:31180532   PMID:31213064   PMID:31336396  
PMID:31378889   PMID:31477833   PMID:31489579   PMID:31590627   PMID:31615086   PMID:31631598   PMID:31703221   PMID:31759055   PMID:31771390   PMID:31809209   PMID:31810117   PMID:32009419  
PMID:32028542   PMID:32162885   PMID:32202300   PMID:32213710   PMID:32235846   PMID:32337535   PMID:32437440   PMID:32525017   PMID:32538061   PMID:32661705   PMID:32667746   PMID:32706068  
PMID:32746934   PMID:32772270   PMID:32785967   PMID:32940422   PMID:33026174   PMID:33066457   PMID:33155202   PMID:33349156   PMID:33486611   PMID:33556337   PMID:33616326   PMID:33741494  
PMID:33895159   PMID:33936086   PMID:34075147   PMID:34082012   PMID:34165154   PMID:34288373   PMID:34348296   PMID:34371509   PMID:34455220   PMID:34670664   PMID:34952571   PMID:34980190  
PMID:35028121   PMID:35163550   PMID:35191745   PMID:35218720   PMID:35236644   PMID:35267120   PMID:35414782   PMID:35421066  


Genomics

Comparative Map Data
MIR148A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38725,949,919 - 25,949,986 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl725,949,919 - 25,949,986 (-)EnsemblGRCh38hg38GRCh38
GRCh37725,989,539 - 25,989,606 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36725,956,063 - 25,956,130 (-)NCBINCBI36hg18NCBI36
Celera725,978,394 - 25,978,461 (-)NCBI
Cytogenetic Map7p15.2NCBI
HuRef725,877,181 - 25,877,242 (-)NCBIHuRef
CHM1_1725,991,141 - 25,991,208 (-)NCBICHM1_1
T2T-CHM13v2.0726,085,385 - 26,085,452 (-)NCBI
CRA_TCAGchr7v2726,040,542 - 26,040,609 (-)NCBI
Mir148a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39651,246,792 - 51,246,890 (-)NCBIGRCm39mm39
GRCm39 Ensembl651,246,792 - 51,246,890 (-)Ensembl
GRCm38651,269,812 - 51,269,910 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl651,269,812 - 51,269,910 (-)EnsemblGRCm38mm10GRCm38
MGSCv37651,219,811 - 51,219,909 (-)NCBIGRCm37mm9NCBIm37
Celera651,786,114 - 51,786,212 (-)NCBICelera
Cytogenetic Map6B3NCBI
Mir148a
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2480,333,762 - 80,333,858 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl480,333,762 - 80,333,858 (-)Ensembl
Rnor_6.0481,013,269 - 81,013,365 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl481,013,269 - 81,013,365 (-)EnsemblRnor6.0rn6Rnor6.0
Celera475,234,901 - 75,234,997 (-)NCBICelera
Cytogenetic Map4q24NCBI
MIR148A
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11439,301,847 - 39,301,906 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1439,301,843 - 39,301,920 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1438,857,890 - 38,857,949 (-)NCBI
ROS_Cfam_1.01439,240,693 - 39,240,752 (-)NCBI
UMICH_Zoey_3.11439,356,173 - 39,356,232 (-)NCBI
UNSW_CanFamBas_1.01439,043,287 - 39,043,346 (-)NCBI
UU_Cfam_GSD_1.01439,393,519 - 39,393,578 (-)NCBI
MIR148A
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1846,415,202 - 46,415,281 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11846,415,213 - 46,415,280 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21851,216,035 - 51,216,102 (+)NCBISscrofa10.2Sscrofa10.2susScr3

miRNA Target Status

Confirmed Targets
Gene TargetMature miRNAMethod NameResult TypeData TypeSupport TypePMID
GALK2hsa-miR-148a-5pMirtarbaseexternal_infoCLASHFunctional MTI (Weak)23622248
DNMT1hsa-miR-148a-3pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI20146264
DNMT1hsa-miR-148a-3pMirtarbaseexternal_infoqRT-PCR//Luciferase reporter assay//Western blotFunctional MTI20483747
DNMT1hsa-miR-148a-3pMirtarbaseexternal_infoFlow//qRT-PCR//Western blotFunctional MTI22167392
HLA-Ghsa-miR-148a-3pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI17847008
TGIF2hsa-miR-148a-3pMirtarbaseexternal_infoLuciferase reporter assay//Western blotFunctional MTI18768788
DNMT3Bhsa-miR-148a-3pMirtarbaseexternal_infoGFP reporter assay//Western blot//qRT-PCRFunctional MTI18367714
DNMT3Bhsa-miR-148a-3pMirtarbaseexternal_infoMicroarray//qRT-PCRFunctional MTI (Weak)19435428
NR1I2hsa-miR-148a-3pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCRFunctional MTI18268015
RPS6KA5hsa-miR-148a-3pMirtarbaseexternal_infoqRT-PCR//Luciferase reporter assay//Western blot//Functional MTI20406806
CCKBRhsa-miR-148a-3pMirtarbaseexternal_infoLuciferase reporter assay//MicroarrayFunctional MTI21168126
IRS1hsa-miR-148a-3pMirtarbaseexternal_infoLuciferase reporter assay//Western blotFunctional MTI22935141
ACVR1hsa-miR-148a-3pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI22408438
BCL2hsa-miR-148a-3pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI21455217
TMED7hsa-miR-148a-3pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI21552422
GPATCH8hsa-miR-148a-3pMirtarbaseexternal_infoSequencingFunctional MTI (Weak)20371350
CDC25Bhsa-miR-148a-3pMirtarbaseexternal_infoReporter assay;Western blot;OtherFunctional MTI21709669
MRPL45hsa-miR-148a-3pMirtarbaseexternal_infoCLASHFunctional MTI (Weak)23622248
CDC25Bhsa-miR-148a-3pTarbaseexternal_infoReporter GenePOSITIVE
CDC25Bhsa-miR-148a-3pTarbaseexternal_infoWesternblitPOSITIVE
CDC25Bhsa-miR-148a-3pTarbaseexternal_infoOtherPOSITIVE
RAB34hsa-miR-148a-3pTarbaseexternal_infoSequencingPOSITIVE
DNMT3Bhsa-miR-148a-3pMirecordsexternal_info{changed}NA18367714
DNMT3Bhsa-miR-148a-3pMirecordsexternal_info{unchanged}NA18367714
NR1I2hsa-miR-148a-3pMirecordsexternal_infoNANA18268015
RPS6KA5hsa-miR-148a-3pMirecordsexternal_infoNANA20406806
DNMT1hsa-miR-148a-3pMirecordsexternal_infoNANA20146264
CDKN1Bhsa-miR-148a-3pMirecordsexternal_infoNANA21552422
PBXIP1hsa-miR-148a-3pOncomiRDBexternal_infoNANA23321675
DNMT1hsa-miR-148a-3pOncomiRDBexternal_infoNANA22935141
PTENhsa-miR-148a-3pOncomiRDBexternal_infoNANA22496917
PIK3IP1hsa-miR-148a-3pOncomiRDBexternal_infoNANA22266859
ROCK1hsa-miR-148a-3pOncomiRDBexternal_infoNANA21994419
CDC25Bhsa-miR-148a-3pOncomiRDBexternal_infoNANA21709669
CDKN1Bhsa-miR-148a-3pOncomiRDBexternal_infoNANA21552422
BCL2hsa-miR-148a-3pOncomiRDBexternal_infoNANA21455217
CCKBRhsa-miR-148a-3pOncomiRDBexternal_infoNANA21205300
CAND1hsa-miR-148a-3pOncomiRDBexternal_infoNANA20820187
MITFhsa-miR-148a-3pOncomiRDBexternal_infoNANA20644734
RPS6KA5hsa-miR-148a-3pOncomiRDBexternal_infoNANA20406806
DNMT1hsa-miR-148a-3pOncomiRDBexternal_infoNANA20146264

Predicted Targets
Summary Value
Count of predictions:30126
Count of gene targets:10598
Count of transcripts:21598
Interacting mature miRNAs:hsa-miR-148a-3p, hsa-miR-148a-5p
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 2 1 2 34 1 2 3 3
Low 92 1 26 17 165 19 196 39 33 24 73 130 7 1 2
Below cutoff 9 1 5 2 6 2 3 8 13 6 9 13 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000362215
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl725,949,919 - 25,949,986 (-)Ensembl
RefSeq Acc Id: NR_029597
RefSeq Status: PROVISIONAL
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38725,949,919 - 25,949,986 (-)NCBI
GRCh37725,989,539 - 25,989,606 (-)RGD
Celera725,978,394 - 25,978,461 (-)RGD
HuRef725,877,181 - 25,877,242 (-)RGD
CHM1_1725,991,141 - 25,991,208 (-)NCBI
T2T-CHM13v2.0726,085,385 - 26,085,452 (-)NCBI
CRA_TCAGchr7v2726,040,542 - 26,040,609 (-)ENTREZGENE
Sequence:

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3 copy number gain See cases [RCV000051159] Chr7:54185..41875885 [GRCh38]
Chr7:54185..41915483 [GRCh37]
Chr7:149268..41882008 [NCBI36]
Chr7:7p22.3-14.1
pathogenic
GRCh38/hg38 7p15.2-14.3(chr7:25511691-30421133)x1 copy number loss See cases [RCV000052310] Chr7:25511691..30421133 [GRCh38]
Chr7:25551310..30460749 [GRCh37]
Chr7:25517835..30427274 [NCBI36]
Chr7:7p15.2-14.3
pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3 copy number gain See cases [RCV000053530] Chr7:54185..37089712 [GRCh38]
Chr7:54185..37129317 [GRCh37]
Chr7:149268..37095842 [NCBI36]
Chr7:7p22.3-14.2
pathogenic
GRCh38/hg38 7p21.2-15.2(chr7:16234212-26167278)x3 copy number gain See cases [RCV000053531] Chr7:16234212..26167278 [GRCh38]
Chr7:16273837..26206898 [GRCh37]
Chr7:16240362..26173423 [NCBI36]
Chr7:7p21.2-15.2
pathogenic
GRCh38/hg38 7p21.1-15.2(chr7:20210912-27849400)x1 copy number loss See cases [RCV000134333] Chr7:20210912..27849400 [GRCh38]
Chr7:20250535..27889019 [GRCh37]
Chr7:20217060..27855544 [NCBI36]
Chr7:7p21.1-15.2
pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3 copy number gain See cases [RCV000136557] Chr7:54185..26827634 [GRCh38]
Chr7:54185..26867253 [GRCh37]
Chr7:149268..26833778 [NCBI36]
Chr7:7p22.3-15.2
pathogenic
GRCh38/hg38 7p21.1-14.3(chr7:20561456-32005143)x1 copy number loss See cases [RCV000136775] Chr7:20561456..32005143 [GRCh38]
Chr7:20601079..32044755 [GRCh37]
Chr7:20567604..32011280 [NCBI36]
Chr7:7p21.1-14.3
pathogenic
GRCh38/hg38 7p22.1-15.2(chr7:5682209-27230311)x3 copy number gain See cases [RCV000136649] Chr7:5682209..27230311 [GRCh38]
Chr7:5721840..27269930 [GRCh37]
Chr7:5688366..27236455 [NCBI36]
Chr7:7p22.1-15.2
pathogenic
GRCh38/hg38 7p15.3-15.2(chr7:23765383-26136158)x1 copy number loss See cases [RCV000138258] Chr7:23765383..26136158 [GRCh38]
Chr7:23805002..26175778 [GRCh37]
Chr7:23771527..26142303 [NCBI36]
Chr7:7p15.3-15.2
likely pathogenic|uncertain significance
GRCh38/hg38 7p15.2(chr7:25903388-27022498)x1 copy number loss See cases [RCV000140657] Chr7:25903388..27022498 [GRCh38]
Chr7:25943008..27062117 [GRCh37]
Chr7:25909533..27028642 [NCBI36]
Chr7:7p15.2
likely pathogenic
GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3 copy number gain See cases [RCV000143060] Chr7:1698124..27207295 [GRCh38]
Chr7:1737760..27246914 [GRCh37]
Chr7:1704286..27213439 [NCBI36]
Chr7:7p22.3-15.2
pathogenic
GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3 copy number gain See cases [RCV000143586] Chr7:43360..27196404 [GRCh38]
Chr7:43360..27236023 [GRCh37]
Chr7:138443..27202548 [NCBI36]
Chr7:7p22.3-15.2
pathogenic
GRCh37/hg19 7p15.3-14.3(chr7:22935369-32621975)x1 copy number loss See cases [RCV000240125] Chr7:22935369..32621975 [GRCh37]
Chr7:7p15.3-14.3
pathogenic
TMEM106B-BRAF fusion deletion Pleomorphic xanthoastrocytoma [RCV000454357] Chr7:12258147..140494267 [GRCh37]
Chr7:7p21.3-q34
pathogenic
GRCh37/hg19 7p21.3-14.2(chr7:11562624-36395416)x3 copy number gain See cases [RCV000446478] Chr7:11562624..36395416 [GRCh37]
Chr7:7p21.3-14.2
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p15.3-15.2(chr7:25448425-27578387)x3 copy number gain See cases [RCV000447735] Chr7:25448425..27578387 [GRCh37]
Chr7:7p15.3-15.2
likely pathogenic
GRCh37/hg19 7p21.3-12.1(chr7:11048840-52863626)x3 copy number gain See cases [RCV000512091] Chr7:11048840..52863626 [GRCh37]
Chr7:7p21.3-12.1
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.3-14.3(chr7:704573-29257946)x3 copy number gain See cases [RCV000510275] Chr7:704573..29257946 [GRCh37]
Chr7:7p22.3-14.3
pathogenic
GRCh37/hg19 7p15.3-14.3(chr7:24344104-28879357)x1 copy number loss See cases [RCV000510695] Chr7:24344104..28879357 [GRCh37]
Chr7:7p15.3-14.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv inversion Childhood apraxia of speech [RCV000234948] Chr7:21001537..114528369 [GRCh37]
Chr7:7p15.3-q31.1
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p15.3-14.3(chr7:23877135-33139446)x1 copy number loss not provided [RCV001005924] Chr7:23877135..33139446 [GRCh37]
Chr7:7p15.3-14.3
pathogenic
NC_000007.13:g.23236782_30690453del7453672 deletion Silver Russell Syndrome-related disorder [RCV000785664] Chr7:23236782..30690453 [GRCh37]
Chr7:7p15.3-14.3
pathogenic
GRCh37/hg19 7p15.2(chr7:25753007-26217383)x1 copy number loss not provided [RCV001258940] Chr7:25753007..26217383 [GRCh37]
Chr7:7p15.2
uncertain significance
GRCh37/hg19 7p21.3-14.2(chr7:10745750-35305167) copy number gain not specified [RCV002053668] Chr7:10745750..35305167 [GRCh37]
Chr7:7p21.3-14.2
likely pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:31535 AgrOrtholog
COSMIC MIR148A COSMIC
Ensembl Genes ENSG00000199085 Ensembl, ENTREZGENE
Ensembl Transcript ENST00000362215 ENTREZGENE
GTEx ENSG00000199085 GTEx
HGNC ID HGNC:31535 ENTREZGENE
Human Proteome Map MIR148A Human Proteome Map
miRBase MI0000253 ENTREZGENE
NCBI Gene 406940 ENTREZGENE
OMIM 613786 OMIM
PharmGKB PA164722503 PharmGKB
RNAcentral URS00003BBF48 RNACentral
  URS00003E16E5 RNACentral
  URS00004C7B32 RNACentral