Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | congestive heart failure | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:36071497 | |
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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | congestive heart failure | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:36071497 | |
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PMID:16381832 | PMID:21037258 | PMID:21606961 | PMID:23226537 | PMID:26646931 | PMID:34416282 |
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Variants in MIR5189
1 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 16q23.3-24.3(chr16:83988570-90081985)x3 | copy number gain | See cases [RCV000135659] | Chr16:83988570..90081985 [GRCh38] Chr16:84022175..90148393 [GRCh37] Chr16:82579676..88675894 [NCBI36] Chr16:16q23.3-24.3 |
likely pathogenic |
GRCh38/hg38 16q23.2-24.3(chr16:80946659-90081985)x3 | copy number gain | See cases [RCV000136898] | Chr16:80946659..90081985 [GRCh38] Chr16:80980556..90148393 [GRCh37] Chr16:79538057..88675894 [NCBI36] Chr16:16q23.2-24.3 |
pathogenic|likely pathogenic |
GRCh38/hg38 16q24.2(chr16:88440499-88524205)x3 | copy number gain | See cases [RCV000136719] | Chr16:88440499..88524205 [GRCh38] Chr16:88506907..88590613 [GRCh37] Chr16:87034408..87118114 [NCBI36] Chr16:16q24.2 |
benign |
GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3 | copy number gain | See cases [RCV000137495] | Chr16:70749398..90096995 [GRCh38] Chr16:70783301..90163403 [GRCh37] Chr16:69340802..88690904 [NCBI36] Chr16:16q22.1-24.3 |
pathogenic |
GRCh38/hg38 16q24.2-24.3(chr16:87848216-90096995)x3 | copy number gain | See cases [RCV000138161] | Chr16:87848216..90096995 [GRCh38] Chr16:87881822..90163403 [GRCh37] Chr16:86439323..88690904 [NCBI36] Chr16:16q24.2-24.3 |
likely pathogenic |
GRCh38/hg38 16q23.3-24.3(chr16:83478453-89932910)x3 | copy number gain | See cases [RCV000137980] | Chr16:83478453..89932910 [GRCh38] Chr16:83512058..89999318 [GRCh37] Chr16:82069559..88526819 [NCBI36] Chr16:16q23.3-24.3 |
likely pathogenic |
GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3 | copy number gain | See cases [RCV000139426] | Chr16:65511483..90096995 [GRCh38] Chr16:65545386..90163403 [GRCh37] Chr16:64102887..88690904 [NCBI36] Chr16:16q21-24.3 |
pathogenic |
GRCh38/hg38 16q23.1-24.3(chr16:75377981-90081992)x3 | copy number gain | See cases [RCV000139302] | Chr16:75377981..90081992 [GRCh38] Chr16:75411879..90148400 [GRCh37] Chr16:73969380..88675901 [NCBI36] Chr16:16q23.1-24.3 |
pathogenic |
GRCh38/hg38 16q24.1-24.3(chr16:85552976-90096995)x3 | copy number gain | See cases [RCV000139658] | Chr16:85552976..90096995 [GRCh38] Chr16:85586582..90163403 [GRCh37] Chr16:84144083..88690904 [NCBI36] Chr16:16q24.1-24.3 |
pathogenic |
GRCh38/hg38 16q23.2-24.3(chr16:80717291-90096662)x3 | copy number gain | See cases [RCV000141128] | Chr16:80717291..90096662 [GRCh38] Chr16:80751188..90163070 [GRCh37] Chr16:79308689..88690571 [NCBI36] Chr16:16q23.2-24.3 |
pathogenic |
GRCh38/hg38 16q23.1-24.3(chr16:76336203-90088654)x3 | copy number gain | See cases [RCV000141700] | Chr16:76336203..90088654 [GRCh38] Chr16:76370100..90155062 [GRCh37] Chr16:74927601..88682563 [NCBI36] Chr16:16q23.1-24.3 |
pathogenic |
GRCh38/hg38 16q23.2-24.3(chr16:80067315-90057871)x3 | copy number gain | See cases [RCV000142698] | Chr16:80067315..90057871 [GRCh38] Chr16:80101212..90124279 [GRCh37] Chr16:78658713..88651780 [NCBI36] Chr16:16q23.2-24.3 |
pathogenic |
GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3 | copy number gain | See cases [RCV000142578] | Chr16:64389378..90081985 [GRCh38] Chr16:64423281..90148393 [GRCh37] Chr16:62980782..88675894 [NCBI36] Chr16:16q21-24.3 |
pathogenic|likely pathogenic |
GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3 | copy number gain | See cases [RCV000143425] | Chr16:52899183..90088654 [GRCh38] Chr16:52933095..90155062 [GRCh37] Chr16:51490596..88682563 [NCBI36] Chr16:16q12.2-24.3 |
pathogenic |
GRCh38/hg38 16q24.1-24.3(chr16:86950106-89335814)x1 | copy number loss | See cases [RCV000143624] | Chr16:86950106..89335814 [GRCh38] Chr16:86983712..89402222 [GRCh37] Chr16:85541213..87929723 [NCBI36] Chr16:16q24.1-24.3 |
pathogenic |
GRCh38/hg38 16q23.1-24.3(chr16:78816291-90081985)x3 | copy number gain | See cases [RCV000050840] | Chr16:78816291..90081985 [GRCh38] Chr16:78850188..90148393 [GRCh37] Chr16:77407689..88675894 [NCBI36] Chr16:16q23.1-24.3 |
pathogenic |
GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3 | copy number gain | See cases [RCV000052421] | Chr16:65313395..90081985 [GRCh38] Chr16:65347298..90148393 [GRCh37] Chr16:63904799..88675894 [NCBI36] Chr16:16q21-24.3 |
pathogenic |
GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3 | copy number gain | See cases [RCV000052422] | Chr16:70514631..90081985 [GRCh38] Chr16:70548534..90148393 [GRCh37] Chr16:69106035..88675894 [NCBI36] Chr16:16q22.1-24.3 |
pathogenic |
GRCh38/hg38 16q23.1-24.3(chr16:76873569-90081985)x3 | copy number gain | See cases [RCV000052423] | Chr16:76873569..90081985 [GRCh38] Chr16:76907466..90148393 [GRCh37] Chr16:75464967..88675894 [NCBI36] Chr16:16q23.1-24.3 |
pathogenic |
GRCh38/hg38 16q23.3-24.3(chr16:82173150-90081985)x3 | copy number gain | See cases [RCV000052424] | Chr16:82173150..90081985 [GRCh38] Chr16:82206755..90148393 [GRCh37] Chr16:80764256..88675894 [NCBI36] Chr16:16q23.3-24.3 |
pathogenic |
GRCh38/hg38 16q24.1-24.3(chr16:84707538-90081985)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052425]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052425]|See cases [RCV000052425] | Chr16:84707538..90081985 [GRCh38] Chr16:84741144..90148393 [GRCh37] Chr16:83298645..88675894 [NCBI36] Chr16:16q24.1-24.3 |
pathogenic |
GRCh38/hg38 16q24.2-24.3(chr16:87853401-90081985)x3 | copy number gain | See cases [RCV000052428] | Chr16:87853401..90081985 [GRCh38] Chr16:87887007..90148393 [GRCh37] Chr16:86444508..88675894 [NCBI36] Chr16:16q24.2-24.3 |
pathogenic |
GRCh38/hg38 16q24.2-24.3(chr16:87306529-89269079)x1 | copy number loss | See cases [RCV000053362] | Chr16:87306529..89269079 [GRCh38] Chr16:87340135..89335487 [GRCh37] Chr16:85897636..87862988 [NCBI36] Chr16:16q24.2-24.3 |
pathogenic |
GRCh38/hg38 16q24.2-24.3(chr16:88159660-89506042)x1 | copy number loss | See cases [RCV000053363] | Chr16:88159660..89506042 [GRCh38] Chr16:88193266..89572450 [GRCh37] Chr16:86750767..88099951 [NCBI36] Chr16:16q24.2-24.3 |
pathogenic |
Single allele | deletion | KBG syndrome [RCV003388954] | Chr16:88197484..89331695 [GRCh38] Chr16:16q24.2-24.3 |
pathogenic |
Single allele | deletion | KBG syndrome [RCV003388953] | Chr16:87169884..89487487 [GRCh38] Chr16:16q24.2-24.3 |
pathogenic |
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. |
alimentary part of gastrointestinal system | circulatory system | endocrine system | exocrine system | hemolymphoid system | hepatobiliary system | integumental system | musculoskeletal system | nervous system | renal system | reproductive system | respiratory system | sensory system | adipose tissue | appendage | entire extraembryonic component | |
High | ||||||||||||||||
Medium | 1 | 6 | 1 | |||||||||||||
Low | 59 | 22 | 33 | 23 | 131 | 23 | 26 | 8 | 39 | 21 | 22 | 43 | 1 | 8 | 8 | 1 |
Below cutoff | 70 | 57 | 43 | 15 | 82 | 14 | 59 | 14 | 77 | 15 | 43 | 44 | 2 | 19 | 24 | 1 |
RefSeq Acc Id: | ENST00000577370 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NR_049821 | ||||||||||||||||||||||||
RefSeq Status: | PROVISIONAL | ||||||||||||||||||||||||
Type: | NON-CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
Database | Acc Id | Source(s) |
COSMIC | MIR5189 | COSMIC |
Ensembl Genes | ENSG00000263456 | Ensembl, ENTREZGENE |
Ensembl Transcript | ENST00000577370 | ENTREZGENE |
GTEx | ENSG00000263456 | GTEx |
HGNC ID | HGNC:43515 | ENTREZGENE |
Human Proteome Map | MIR5189 | Human Proteome Map |
miRBase | MI0018168 | ENTREZGENE |
NCBI Gene | MIR5189 | ENTREZGENE |
PharmGKB | PA166160518 | PharmGKB |
RNAcentral | URS00005CCD18 | RNACentral |
URS000075B757 | RNACentral | |
URS000075DEEB | RNACentral |