Imported Disease Annotations - CTDObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | MIR216A | Human | pancreatitis | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:27840954 | |
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Imported Disease Annotations - CTDObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | MIR216A | Human | pancreatitis | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:27840954 | |
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# | Reference Title | Reference Citation |
1. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
2. | Metformin exhibits its therapeutic effect in the treatment of pre-eclampsia via modulating the Met/H19/miR-148a-5p/P28 and Met/H19/miR-216-3p/EBI3 signaling pathways. | Shu C, etal. |
MIR216A (Homo sapiens - human) |
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Mir216a (Mus musculus - house mouse) |
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Mir216a (Rattus norvegicus - Norway rat) |
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MIR216A (Canis lupus familiaris - dog) |
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MIR216-1 (Sus scrofa - pig) |
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Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 2p16.1(chr2:55426587-56072649)x3 | copy number gain | See cases [RCV000052659] | Chr2:55426587..56072649 [GRCh38] Chr2:55653723..56299784 [GRCh37] Chr2:55507227..56153288 [NCBI36] Chr2:2p16.1 |
uncertain significance |
GRCh38/hg38 2p22.1-16.1(chr2:40738282-57863821)x3 | copy number gain | See cases [RCV000052943] | Chr2:40738282..57863821 [GRCh38] Chr2:40965422..58090956 [GRCh37] Chr2:40818926..57944460 [NCBI36] Chr2:2p22.1-16.1 |
pathogenic |
GRCh38/hg38 2p16.1(chr2:55570578-60519844)x1 | copy number loss | See cases [RCV000137092] | Chr2:55570578..60519844 [GRCh38] Chr2:55797714..60746979 [GRCh37] Chr2:55651218..60600483 [NCBI36] Chr2:2p16.1 |
pathogenic|uncertain significance |
GRCh38/hg38 2p16.3-11.2(chr2:47620388-86702722)x3 | copy number gain | See cases [RCV000137586] | Chr2:47620388..86702722 [GRCh38] Chr2:47847527..86929845 [GRCh37] Chr2:47701031..86783356 [NCBI36] Chr2:2p16.3-11.2 |
uncertain significance |
GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3 | copy number gain | See cases [RCV000141494] | Chr2:7495123..87705899 [GRCh38] Chr2:7635254..88005418 [GRCh37] Chr2:7552705..87786533 [NCBI36] Chr2:2p25.1-11.2 |
benign |
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 | copy number gain | not provided [RCV000752802] | Chr2:14238..243048760 [GRCh37] Chr2:2p25.3-q37.3 |
pathogenic |
GRCh37/hg19 2p23.3-16.1(chr2:27861707-60790985)x3 | copy number gain | See cases [RCV000454271] | Chr2:27861707..60790985 [GRCh37] Chr2:2p23.3-16.1 |
pathogenic |
GRCh37/hg19 2p16.2-16.1(chr2:54234790-57365499)x3 | copy number gain | See cases [RCV000446524] | Chr2:54234790..57365499 [GRCh37] Chr2:2p16.2-16.1 |
uncertain significance |
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) | copy number gain | See cases [RCV000512056] | Chr2:12771..242783384 [GRCh37] Chr2:2p25.3-q37.3 |
pathogenic |
GRCh37/hg19 2p16.1(chr2:55588867-56927117)x1 | copy number loss | See cases [RCV000510380] | Chr2:55588867..56927117 [GRCh37] Chr2:2p16.1 |
uncertain significance |
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 | copy number gain | See cases [RCV000511212] | Chr2:12771..242783384 [GRCh37] Chr2:2p25.3-q37.3 |
pathogenic |
Single allele | deletion | not provided [RCV000714264] | Chr2:40608411..146900718 [GRCh37] Chr2:2p22.1-q22.3 |
likely pathogenic |
GRCh37/hg19 2p22.3-16.1(chr2:34792916-56676541)x3 | copy number gain | not provided [RCV000682169] | Chr2:34792916..56676541 [GRCh37] Chr2:2p22.3-16.1 |
pathogenic |
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 | copy number gain | not provided [RCV000752804] | Chr2:15672..243101834 [GRCh37] Chr2:2p25.3-q37.3 |
pathogenic |
GRCh37/hg19 2p16.1(chr2:56170392-56636529)x3 | copy number gain | not provided [RCV000740462] | Chr2:56170392..56636529 [GRCh37] Chr2:2p16.1 |
benign |
GRCh37/hg19 2p16.1(chr2:56175876-60780215)x1 | copy number loss | not provided [RCV000849729] | Chr2:56175876..60780215 [GRCh37] Chr2:2p16.1 |
pathogenic |
GRCh37/hg19 2p16.1(chr2:56141953-56942624)x3 | copy number gain | not provided [RCV001249407] | Chr2:56141953..56942624 [GRCh37] Chr2:2p16.1 |
not provided |
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) | copy number gain | Mosaic trisomy 2 [RCV002280628] | Chr2:1..243199373 [GRCh37] Chr2:2p25.3-q37.3 |
pathogenic |
GRCh37/hg19 2p16.1(chr2:55588867-56935857) | copy number loss | not specified [RCV002052759] | Chr2:55588867..56935857 [GRCh37] Chr2:2p16.1 |
uncertain significance |
GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1 | copy number loss | See cases [RCV002287563] | Chr2:11504318..111365996 [GRCh37] Chr2:2p25.1-q13 |
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. |
adipose tissue
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alimentary part of gastrointestinal system
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appendage
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circulatory system
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ectoderm
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endocrine system
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endoderm
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exocrine system
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hemolymphoid system
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hepatobiliary system
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integumental system
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mesenchyme
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mesoderm
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musculoskeletal system
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nervous system
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renal system
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reproductive system
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respiratory system
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1 | 21 | 5 | 11 | 15 | 5 | 38 | 3 | 10 | 3 | 5 | 34 | 23 | 1 | 14 | 2 | 14 | 35 |
Ensembl Acc Id: | ENST00000385063 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NR_029629 | ||||||||||||||||||||||||||||
RefSeq Status: | PROVISIONAL | ||||||||||||||||||||||||||||
Type: | NON-CODING | ||||||||||||||||||||||||||||
Position: |
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Sequence: |
Database | Acc Id | Source(s) |
AGR Gene | HGNC:31593 | AgrOrtholog |
COSMIC | MIR216A | COSMIC |
Ensembl Genes | ENSG00000207798 | Ensembl, ENTREZGENE |
Ensembl Transcript | ENST00000385063 | ENTREZGENE |
GTEx | ENSG00000207798 | GTEx |
HGNC ID | HGNC:31593 | ENTREZGENE |
Human Proteome Map | MIR216A | Human Proteome Map |
miRBase | MI0000292 | ENTREZGENE |
NCBI Gene | 406998 | ENTREZGENE |
OMIM | 610944 | OMIM |
PharmGKB | PA164722598 | PharmGKB |
RNAcentral | URS000013ABA3 | RNACentral |
URS0000318E24 | RNACentral | |
URS000075D097 | RNACentral |