MIR212 (microRNA 212) - Rat Genome Database
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Gene: MIR212 (microRNA 212) Homo sapiens
Analyze
Symbol: MIR212
Name: microRNA 212
RGD ID: 1352239
HGNC Page HGNC
Description: Predicted to be involved in regulation of dendrite development and regulation of neuron maturation.
Type: ncrna
RefSeq Status: PROVISIONAL
Also known as: mir-212; MIRN212
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
GRCh38.p13 Ensembl172,050,271 - 2,050,380 (-)EnsemblGRCh38hg38GRCh38
GRCh38172,050,271 - 2,050,380 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37171,953,565 - 1,953,674 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36171,900,314 - 1,900,423 (-)NCBINCBI36hg18NCBI36
Celera171,970,210 - 1,970,319 (-)NCBI
Cytogenetic Map17p13.3NCBI
CHM1_1171,962,332 - 1,962,441 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

References

References - curated
1. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12624257   PMID:16381832   PMID:18162065   PMID:20020497   PMID:20856931   PMID:21037258   PMID:21053104   PMID:21329664   PMID:22077060   PMID:22110741   PMID:22241070   PMID:22357618  
PMID:22692398   PMID:22880819   PMID:23011132   PMID:23264652   PMID:23295264   PMID:23583431   PMID:23585551   PMID:23712358   PMID:23794145   PMID:23922798   PMID:23974008   PMID:24338410  
PMID:24961235   PMID:24981235   PMID:25201063   PMID:25201220   PMID:25217442   PMID:25435090   PMID:25483038   PMID:25562164   PMID:25617893   PMID:25645730   PMID:25656957   PMID:25720694  
PMID:25965836   PMID:25988335   PMID:26337469   PMID:26362250   PMID:26377202   PMID:26377223   PMID:26439987   PMID:26553749   PMID:26646931   PMID:26692142   PMID:27493231   PMID:27814273  
PMID:27816213   PMID:27999212   PMID:28089352   PMID:28504814   PMID:28557988   PMID:28624413   PMID:28713997   PMID:28791372   PMID:28824293   PMID:28944887   PMID:29115609   PMID:29174964  
PMID:29207181   PMID:29216628   PMID:29286157   PMID:29321092   PMID:29325293   PMID:29424904   PMID:29567542   PMID:29611404   PMID:29793327   PMID:29917185   PMID:30021100   PMID:30238562  
PMID:30282972   PMID:30335901   PMID:30556883   PMID:30695677   PMID:30819403   PMID:30820544   PMID:30892651   PMID:31285444   PMID:31404776   PMID:31485658   PMID:31502558   PMID:31608838  
PMID:31646569   PMID:31653278   PMID:31858542   PMID:31891679   PMID:32089625   PMID:32346696   PMID:32707140  


Genomics

Comparative Map Data
MIR212
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl172,050,271 - 2,050,380 (-)EnsemblGRCh38hg38GRCh38
GRCh38172,050,271 - 2,050,380 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37171,953,565 - 1,953,674 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36171,900,314 - 1,900,423 (-)NCBINCBI36hg18NCBI36
Celera171,970,210 - 1,970,319 (-)NCBI
Cytogenetic Map17p13.3NCBI
CHM1_1171,962,332 - 1,962,441 (-)NCBICHM1_1
Mir212
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391175,064,214 - 75,064,304 (+)NCBIGRCm39mm39
GRCm39 Ensembl1175,064,214 - 75,064,304 (+)Ensembl
GRCm381175,173,388 - 75,173,478 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1175,173,388 - 75,173,478 (+)EnsemblGRCm38mm10GRCm38
MGSCv371174,986,890 - 74,986,980 (+)NCBIGRCm37mm9NCBIm37
Celera1182,680,332 - 82,680,422 (+)NCBICelera
Cytogenetic Map11B5NCBI
Mir212
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21060,023,403 - 60,023,513 (+)NCBI
Rnor_6.0 Ensembl1062,014,702 - 62,014,812 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01062,014,702 - 62,014,812 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01061,729,092 - 61,729,202 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera1059,053,356 - 59,053,466 (+)NCBICelera
Cytogenetic Map10q24NCBI
MIR212
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl946,153,903 - 46,153,984 (-)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.1946,153,913 - 46,153,974 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
MIR212
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1248,163,046 - 48,163,145 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11248,163,054 - 48,163,135 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21250,016,151 - 50,016,232 (-)NCBISscrofa10.2Sscrofa10.2susScr3

miRNA Target Status

Confirmed Targets
Gene TargetMature miRNAMethod NameResult TypeData TypeSupport TypePMID
RB1hsa-miR-212-3pMirtarbaseexternal_infoLuciferase reporter assay//Western blot//Reporter Functional MTI21329664
MECP2hsa-miR-212-3pMirtarbaseexternal_infoImmunohistochemistry//Luciferase reporter assay//MFunctional MTI20020497
WT1hsa-miR-212-3pMirtarbaseexternal_infoMicroarrayFunctional MTI (Weak)17875710
TJP1hsa-miR-212-3pMirtarbaseexternal_infoWestern blot//Luciferase reporter assayFunctional MTI18162065
PEA15hsa-miR-212-3pMirtarbaseexternal_infoqRT-PCR//Luciferase reporter assay//Western blotFunctional MTI20388802
PTCH1hsa-miR-212-3pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI22357618
KCNJ2hsa-miR-212-3pMirtarbaseexternal_infoImmunoblot//Luciferase reporter assay//qRT-PCRFunctional MTI22880819
CCNA2hsa-miR-212-3pMirtarbaseexternal_infoWestern blot;qRT-PCRFunctional MTI21329664
DPF1hsa-miR-212-3pMirtarbaseexternal_infoCLASHFunctional MTI (Weak)23622248
CCNA2hsa-miR-212-3pTarbaseexternal_infoqPCRPOSITIVE
CCNA2hsa-miR-212-3pTarbaseexternal_infoWesternblitPOSITIVE
MECP2hsa-miR-212-3pTarbaseexternal_infoReporter GenePOSITIVE
MECP2hsa-miR-212-3pTarbaseexternal_infoMicroarrayPOSITIVE
MECP2hsa-miR-212-3pTarbaseexternal_infoOtherPOSITIVE
TJP1hsa-miR-212-3pMirecordsexternal_infoNANA18162065
PTCH1hsa-miR-212-3pOncomiRDBexternal_infoNANA22357618
ABCG2hsa-miR-212-3pOncomiRDBexternal_infoNANA22241070
RB1hsa-miR-212-3pOncomiRDBexternal_infoNANA21329664
MYChsa-miR-212-3pOncomiRDBexternal_infoNANA21053104
PEA15hsa-miR-212-3pOncomiRDBexternal_infoNANA20388802
MECP2hsa-miR-212-3pOncomiRDBexternal_infoNANA20020497

Predicted Targets
Summary Value
Count of predictions:40644
Count of gene targets:14932
Count of transcripts:31817
Interacting mature miRNAs:hsa-miR-212-3p, hsa-miR-212-5p
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 adipose tissue appendage
High
Medium
Low 68 41 120 21 42 19 103 29 176 13 85 93 4 106 59
Below cutoff 132 187 156 19 88 18 257 138 364 14 132 93 4 120 160

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000586026
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl172,050,271 - 2,050,380 (-)Ensembl
RefSeq Acc Id: NR_029625
RefSeq Status: PROVISIONAL
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38172,050,271 - 2,050,380 (-)NCBI
GRCh37171,953,565 - 1,953,674 (-)RGD
Celera171,970,210 - 1,970,319 (-)RGD
CHM1_1171,962,332 - 1,962,441 (-)NCBI
Sequence:

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 17p13.3(chr17:198748-3102332)x1 copy number loss See cases [RCV000050936] Chr17:198748..3102332 [GRCh38]
Chr17:50690..3005626 [GRCh37]
Chr17:48539..2952376 [NCBI36]
Chr17:17p13.3
pathogenic
GRCh38/hg38 17p13.3(chr17:1065649-2261786)x1 copy number loss See cases [RCV000050815] Chr17:1065649..2261786 [GRCh38]
Chr17:968889..2165080 [GRCh37]
Chr17:915639..2111830 [NCBI36]
Chr17:17p13.3
pathogenic
GRCh38/hg38 17p13.3(chr17:644280-2193615)x3 copy number gain See cases [RCV000051125] Chr17:644280..2193615 [GRCh38]
Chr17:547520..2096909 [GRCh37]
Chr17:494270..2043659 [NCBI36]
Chr17:17p13.3
pathogenic
GRCh38/hg38 17p13.3(chr17:198748-2261786)x1 copy number loss See cases [RCV000051148] Chr17:198748..2261786 [GRCh38]
Chr17:50690..2165080 [GRCh37]
Chr17:48539..2111830 [NCBI36]
Chr17:17p13.3
pathogenic
GRCh38/hg38 17p13.3(chr17:436763-2527511)x3 copy number gain See cases [RCV000052432] Chr17:436763..2527511 [GRCh38]
Chr17:396627..2430805 [GRCh37]
Chr17:286785..2377555 [NCBI36]
Chr17:17p13.3
pathogenic
GRCh38/hg38 17p13.3(chr17:445331-2385512)x3 copy number gain See cases [RCV000052434] Chr17:445331..2385512 [GRCh38]
Chr17:396627..2288806 [GRCh37]
Chr17:295350..2235556 [NCBI36]
Chr17:17p13.3
pathogenic
GRCh38/hg38 17p13.3(chr17:1287199-3154232)x3 copy number gain See cases [RCV000052448] Chr17:1287199..3154232 [GRCh38]
Chr17:1190493..3057526 [GRCh37]
Chr17:1137243..3004276 [NCBI36]
Chr17:17p13.3
pathogenic
GRCh38/hg38 17p13.3(chr17:234496-2385512)x3 copy number gain See cases [RCV000052429] Chr17:234496..2385512 [GRCh38]
Chr17:396627..2288806 [GRCh37]
Chr17:84287..2235556 [NCBI36]
Chr17:17p13.3
pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:193307-5652222)x1 copy number loss See cases [RCV000053384] Chr17:193307..5652222 [GRCh38]
Chr17:45835..5555542 [GRCh37]
Chr17:43098..5496266 [NCBI36]
Chr17:17p13.3-13.2
pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:198748-3436345)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053386]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053386]|See cases [RCV000053386] Chr17:198748..3436345 [GRCh38]
Chr17:50690..3339639 [GRCh37]
Chr17:48539..3286389 [NCBI36]
Chr17:17p13.3-13.2
pathogenic
GRCh38/hg38 17p13.3-13.1(chr17:162088-6959050)x1 copy number loss See cases [RCV000134135] Chr17:162088..6959050 [GRCh38]
Chr17:45835..6862369 [GRCh37]
Chr17:11879..6803093 [NCBI36]
Chr17:17p13.3-13.1
pathogenic
GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3 copy number gain See cases [RCV000134970] Chr17:198748..7491129 [GRCh38]
Chr17:50690..7394448 [GRCh37]
Chr17:48539..7335172 [NCBI36]
Chr17:17p13.3-13.1
pathogenic
GRCh38/hg38 17p13.3(chr17:198748-2685361)x1 copy number loss See cases [RCV000134971] Chr17:198748..2685361 [GRCh38]
Chr17:50690..2588655 [GRCh37]
Chr17:48539..2535405 [NCBI36]
Chr17:17p13.3
pathogenic
GRCh38/hg38 17p13.3(chr17:1984085-2193615)x1 copy number loss See cases [RCV000135747] Chr17:1984085..2193615 [GRCh38]
Chr17:1887379..2096909 [GRCh37]
Chr17:1834129..2043659 [NCBI36]
Chr17:17p13.3
uncertain significance
GRCh38/hg38 17p13.3-13.2(chr17:226472-3655099)x1 copy number loss See cases [RCV000135857] Chr17:226472..3655099 [GRCh38]
Chr17:396627..3558393 [GRCh37]
Chr17:76263..3505142 [NCBI36]
Chr17:17p13.3-13.2
pathogenic
GRCh38/hg38 17p13.3(chr17:1227482-2261786)x3 copy number gain See cases [RCV000136639] Chr17:1227482..2261786 [GRCh38]
Chr17:1130776..2165080 [GRCh37]
Chr17:1077526..2111830 [NCBI36]
Chr17:17p13.3
likely pathogenic|uncertain significance
GRCh38/hg38 17p13.3-13.2(chr17:1348488-3513273)x3 copy number gain See cases [RCV000137603] Chr17:1348488..3513273 [GRCh38]
Chr17:1251782..3416567 [GRCh37]
Chr17:1198532..3363317 [NCBI36]
Chr17:17p13.3-13.2
likely pathogenic
GRCh38/hg38 17p13.3(chr17:1742705-2952264)x1 copy number loss See cases [RCV000138203] Chr17:1742705..2952264 [GRCh38]
Chr17:1645999..2855558 [GRCh37]
Chr17:1592749..2802308 [NCBI36]
Chr17:17p13.3
pathogenic|likely benign
GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1 copy number loss See cases [RCV000138214] Chr17:162016..7697012 [GRCh38]
Chr17:45835..7600330 [GRCh37]
Chr17:11807..7541055 [NCBI36]
Chr17:17p13.3-13.1
pathogenic
GRCh38/hg38 17p13.3(chr17:162016-2099130)x1 copy number loss See cases [RCV000138246] Chr17:162016..2099130 [GRCh38]
Chr17:45835..2002424 [GRCh37]
Chr17:11807..1949174 [NCBI36]
Chr17:17p13.3
likely pathogenic
GRCh38/hg38 17p13.3(chr17:1227392-2261993)x1 copy number loss See cases [RCV000138512] Chr17:1227392..2261993 [GRCh38]
Chr17:1130686..2165287 [GRCh37]
Chr17:1077436..2112037 [NCBI36]
Chr17:17p13.3
pathogenic
GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3 copy number gain See cases [RCV000138531] Chr17:162016..12343901 [GRCh38]
Chr17:45835..12247218 [GRCh37]
Chr17:11807..12187943 [NCBI36]
Chr17:17p13.3-12
pathogenic
GRCh38/hg38 17p13.3(chr17:2012699-2644858)x1 copy number loss See cases [RCV000138311] Chr17:2012699..2644858 [GRCh38]
Chr17:1915993..2548152 [GRCh37]
Chr17:1862743..2494902 [NCBI36]
Chr17:17p13.3
pathogenic
GRCh38/hg38 17p13.3(chr17:1808796-2403389)x3 copy number gain See cases [RCV000139433] Chr17:1808796..2403389 [GRCh38]
Chr17:1712090..2306683 [GRCh37]
Chr17:1658840..2253433 [NCBI36]
Chr17:17p13.3
pathogenic|uncertain significance
GRCh38/hg38 17p13.3-13.2(chr17:150732-5935377)x1 copy number loss See cases [RCV000141658] Chr17:150732..5935377 [GRCh38]
Chr17:525..5838697 [GRCh37]
Chr17:525..5779421 [NCBI36]
Chr17:17p13.3-13.2
pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:237248-4735533)x1 copy number loss See cases [RCV000141559] Chr17:237248..4735533 [GRCh38]
Chr17:396627..4638828 [GRCh37]
Chr17:87039..4585577 [NCBI36]
Chr17:17p13.3-13.2
pathogenic
GRCh38/hg38 17p13.3(chr17:150732-3242868)x1 copy number loss See cases [RCV000142323] Chr17:150732..3242868 [GRCh38]
Chr17:525..3146162 [GRCh37]
Chr17:525..3092912 [NCBI36]
Chr17:17p13.3
pathogenic
GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3 copy number gain See cases [RCV000142236] Chr17:150732..14764202 [GRCh38]
Chr17:525..14667519 [GRCh37]
Chr17:525..14608244 [NCBI36]
Chr17:17p13.3-12
pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:198748-4265640)x1 copy number loss See cases [RCV000142440] Chr17:198748..4265640 [GRCh38]
Chr17:50690..4168935 [GRCh37]
Chr17:48539..4115684 [NCBI36]
Chr17:17p13.3-13.2
pathogenic
GRCh38/hg38 17p13.3(chr17:1227482-2082382)x1 copy number loss See cases [RCV000143179] Chr17:1227482..2082382 [GRCh38]
Chr17:1130776..1985676 [GRCh37]
Chr17:1077526..1932426 [NCBI36]
Chr17:17p13.3
likely pathogenic
GRCh37/hg19 17p13.3-13.2(chr17:919381-4046915)x3 copy number gain See cases [RCV000240175] Chr17:919381..4046915 [GRCh37]
Chr17:17p13.3-13.2
pathogenic
GRCh37/hg19 17p13.3(chr17:1218064-2619473)x1 copy number loss See cases [RCV000240453] Chr17:1218064..2619473 [GRCh37]
Chr17:17p13.3
pathogenic
GRCh37/hg19 17p13.3(chr17:48858-2940028)x1 copy number loss See cases [RCV000449220] Chr17:48858..2940028 [GRCh37]
Chr17:17p13.3
pathogenic
GRCh37/hg19 17p13.3(chr17:874171-2306440)x3 copy number gain See cases [RCV000447467] Chr17:874171..2306440 [GRCh37]
Chr17:17p13.3
pathogenic
GRCh37/hg19 17p13.3(chr17:525-2518160)x1 copy number loss See cases [RCV000446045] Chr17:525..2518160 [GRCh37]
Chr17:17p13.3
pathogenic
GRCh37/hg19 17p13.3(chr17:1936753-2901448)x1 copy number loss See cases [RCV000446462] Chr17:1936753..2901448 [GRCh37]
Chr17:17p13.3
pathogenic
GRCh37/hg19 17p13.3(chr17:1791849-2455613)x3 copy number gain See cases [RCV000446687] Chr17:1791849..2455613 [GRCh37]
Chr17:17p13.3
uncertain significance
GRCh37/hg19 17p13.3-13.2(chr17:1751557-5378509)x1 copy number loss See cases [RCV000445994] Chr17:1751557..5378509 [GRCh37]
Chr17:17p13.3-13.2
pathogenic
GRCh37/hg19 17p13.3-13.1(chr17:1113102-6742486) copy number gain See cases [RCV000445679] Chr17:1113102..6742486 [GRCh37]
Chr17:17p13.3-13.1
pathogenic
GRCh37/hg19 17p13.3(chr17:525-2092064)x1 copy number loss See cases [RCV000445813] Chr17:525..2092064 [GRCh37]
Chr17:17p13.3
pathogenic
GRCh37/hg19 17p13.3-13.2(chr17:48858-3379400)x1 copy number loss See cases [RCV000448506] Chr17:48858..3379400 [GRCh37]
Chr17:17p13.3-13.2
pathogenic
GRCh37/hg19 17p13.3(chr17:525-2891302)x1 copy number loss See cases [RCV000447687] Chr17:525..2891302 [GRCh37]
Chr17:17p13.3
pathogenic
GRCh37/hg19 17p13.3(chr17:6160-2002365) copy number gain See cases [RCV000448685] Chr17:6160..2002365 [GRCh37]
Chr17:17p13.3
pathogenic
GRCh37/hg19 17p13.3(chr17:525-2363548)x1 copy number loss See cases [RCV000448774] Chr17:525..2363548 [GRCh37]
Chr17:17p13.3
pathogenic
GRCh37/hg19 17p13.3(chr17:525-2750745)x1 copy number loss See cases [RCV000510381] Chr17:525..2750745 [GRCh37]
Chr17:17p13.3
pathogenic
GRCh37/hg19 17p13.3(chr17:800049-2390454)x1 copy number loss See cases [RCV000510317] Chr17:800049..2390454 [GRCh37]
Chr17:17p13.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-13.2(chr17:525-3825428)x1 copy number loss See cases [RCV000511508] Chr17:525..3825428 [GRCh37]
Chr17:17p13.3-13.2
pathogenic
GRCh37/hg19 17p13.3(chr17:525-1968434)x1 copy number loss See cases [RCV000511558] Chr17:525..1968434 [GRCh37]
Chr17:17p13.3
pathogenic
GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3 copy number gain See cases [RCV000511786] Chr17:525..15027737 [GRCh37]
Chr17:17p13.3-12
pathogenic
GRCh37/hg19 17p13.3-13.2(chr17:1922768-3429136)x3 copy number gain See cases [RCV000511855] Chr17:1922768..3429136 [GRCh37]
Chr17:17p13.3-13.2
likely pathogenic
GRCh37/hg19 17p13.3(chr17:1361431-2573023) copy number loss Lissencephaly [RCV000626514] Chr17:1361431..2573023 [GRCh37]
Chr17:17p13.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-13.2(chr17:525-4151421)x3 copy number gain See cases [RCV000512413] Chr17:525..4151421 [GRCh37]
Chr17:17p13.3-13.2
pathogenic
GRCh37/hg19 17p13.3(chr17:525-2264023)x1 copy number loss See cases [RCV000512467] Chr17:525..2264023 [GRCh37]
Chr17:17p13.3
pathogenic
GRCh37/hg19 17p13.3-12(chr17:525-11186432)x3 copy number gain not provided [RCV000683866] Chr17:525..11186432 [GRCh37]
Chr17:17p13.3-12
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3(chr17:1-2538512)x4,5 copy number gain Partial agenesis of the corpus callosum [RCV000754117] Chr17:1..2538512 [GRCh37]
Chr17:17p13.3
uncertain significance
GRCh37/hg19 17p13.3-13.2(chr17:7214-3871323)x1 copy number loss not provided [RCV000739319] Chr17:7214..3871323 [GRCh37]
Chr17:17p13.3-13.2
pathogenic
GRCh37/hg19 17p13.3(chr17:1914177-1991460)x1 copy number loss not provided [RCV000751893] Chr17:1914177..1991460 [GRCh37]
Chr17:17p13.3
uncertain significance
GRCh37/hg19 17p13.3-13.2(chr17:47546-6287620) copy number gain Chromosome 17p13.3, telomeric, duplication syndrome [RCV000767586] Chr17:47546..6287620 [GRCh37]
Chr17:17p13.3-13.2
pathogenic
GRCh37/hg19 17p13.3(chr17:1690502-1992920)x3 copy number gain not provided [RCV000846889] Chr17:1690502..1992920 [GRCh37]
Chr17:17p13.3
uncertain significance
GRCh37/hg19 17p13.3(chr17:525-2221159)x1 copy number loss not provided [RCV001006848] Chr17:525..2221159 [GRCh37]
Chr17:17p13.3
pathogenic
GRCh37/hg19 17p13.3(chr17:1501331-2832123)x3 copy number gain not provided [RCV000848392] Chr17:1501331..2832123 [GRCh37]
Chr17:17p13.3
pathogenic
GRCh37/hg19 17p13.3-13.2(chr17:8547-5627408)x1 copy number loss See cases [RCV001007429] Chr17:8547..5627408 [GRCh37]
Chr17:17p13.3-13.2
pathogenic
GRCh37/hg19 17p13.3(chr17:1737911-2233965)x1 copy number loss not provided [RCV001007492] Chr17:1737911..2233965 [GRCh37]
Chr17:17p13.3
uncertain significance
GRCh37/hg19 17p13.3(chr17:84287-2468384)x1 copy number loss Distal 17p13.3 microdeletion syndrome [RCV001263217] Chr17:84287..2468384 [GRCh37]
Chr17:17p13.3
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:31589 AgrOrtholog
COSMIC MIR212 COSMIC
Ensembl Genes ENSG00000267195 Ensembl, ENTREZGENE
Ensembl Transcript ENST00000586026 ENTREZGENE
GTEx ENSG00000267195 GTEx
HGNC ID HGNC:31589 ENTREZGENE
Human Proteome Map MIR212 Human Proteome Map
miRBase MI0000288 ENTREZGENE
NCBI Gene 406994 ENTREZGENE
OMIM 613487 OMIM
PharmGKB PA164722595 PharmGKB
RNAcentral URS00001AFC71 RNACentral
  URS00001D6BAE RNACentral
  URS00003AD7BA RNACentral