Imported Annotations - OMIM | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
osteoporosis | IAGP | 7240710 | OMIM |

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Imported Annotations - OMIM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
osteoporosis | IAGP | 7240710 | OMIM |
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1. | OMIM Disease Annotation Pipeline |
2. | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
MIR2861 (Homo sapiens - human) |
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Mir2861 (Mus musculus - house mouse) |
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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. |
RefSeq Transcripts | NG_029812 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NG_033942 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_036055 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AL162586 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | NR_036055 | |||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | |||||||||||||||||||||||||||||
Type: | NON-CODING | |||||||||||||||||||||||||||||
Position: |
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Sequence: |
GGCGCCTCTGCAGCTCCGGCTCCCCCTGGCCTCTCGGGAACTACAAGTCCCAGGGGGCCTGGCGhide sequence |
Name | Type | Condition(s) | Position(s) | Clinical significance |
NR_036055.1(MIR2861):n.33C>G | single nucleotide variant | Bone mineral density quantitative trait locus 15 [RCV000000126] | Chr9:127785950 [GRCh38] Chr9:130548229 [GRCh37] Chr9:9q34.11 |
association |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 | copy number gain | Global developmental delay [RCV000050347]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050348]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050348]|See cases [RCV000050348] | Chr9:193412..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051009]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051009]|See cases [RCV000051009] | Chr9:121112395..138075224 [GRCh38] Chr9:123874673..140969676 [GRCh37] Chr9:122914494..140089497 [NCBI36] Chr9:9q33.2-34.3 |
pathogenic |
GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051040]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051040]|See cases [RCV000051040] | Chr9:122792658..138124532 [GRCh38] Chr9:125554937..141018984 [GRCh37] Chr9:124594758..140138805 [NCBI36] Chr9:9q33.2-34.3 |
pathogenic |
GRCh38/hg38 9q33.3-34.11(chr9:125993583-129682375)x1 | copy number loss | Hepatomegaly [RCV000052923]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052924]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052924]|See cases [RCV000052923] | Chr9:125993583..129682375 [GRCh38] Chr9:128755862..132444654 [GRCh37] Chr9:127795683..131484475 [NCBI36] Chr9:9q33.3-34.11 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 | copy number gain | Intrauterine growth retardation [RCV000053745]|See cases [RCV000053745] | Chr9:193412..138124532 [GRCh38] Chr9:204193..141018984 [GRCh37] Chr9:194193..140138805 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053746]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053746]|See cases [RCV000053746] | Chr9:193412..138114463 [GRCh38] Chr9:214367..141008915 [GRCh37] Chr9:204367..140128736 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] | Chr9:193412..138179445 [GRCh38] Chr9:266045..141073897 [GRCh37] Chr9:256045..140193718 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9q33.2-34.3(chr9:121586837-138179445)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053776]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053776]|See cases [RCV000053776] | Chr9:121586837..138179445 [GRCh38] Chr9:124349116..141073897 [GRCh37] Chr9:123388937..140193718 [NCBI36] Chr9:9q33.2-34.3 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) | copy number gain | See cases [RCV000133791] | Chr9:204193..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3 | copy number gain | See cases [RCV000134920] | Chr9:121073102..138179445 [GRCh38] Chr9:123835380..141073897 [GRCh37] Chr9:122875201..140193718 [NCBI36] Chr9:9q33.2-34.3 |
pathogenic |
GRCh38/hg38 9q33.3-34.11(chr9:125055865-128637946)x1 | copy number loss | See cases [RCV000137787] | Chr9:125055865..128637946 [GRCh38] Chr9:127818144..131400225 [GRCh37] Chr9:126857965..130440046 [NCBI36] Chr9:9q33.3-34.11 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 | copy number gain | See cases [RCV000138783] | Chr9:193412..138124524 [GRCh38] Chr9:204090..141018976 [GRCh37] Chr9:194090..140138797 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 | copy number gain | See cases [RCV000138962] | Chr9:193412..138159073 [GRCh38] Chr9:204104..141053525 [GRCh37] Chr9:194104..140173346 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic|conflicting data from submitters |
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 | copy number gain | See cases [RCV000139207] | Chr9:193412..138159073 [GRCh38] Chr9:68420641..141053525 [GRCh37] Chr9:67910461..140173346 [NCBI36] Chr9:9p11.2-q34.3 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 | copy number gain | See cases [RCV000141876] | Chr9:203861..138125937 [GRCh38] Chr9:203861..141020389 [GRCh37] Chr9:193861..140140210 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 | copy number gain | See cases [RCV000143476] | Chr9:203862..138125937 [GRCh38] Chr9:203862..141020389 [GRCh37] Chr9:193862..140140210 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 | copy number gain | See cases [RCV000148113] | Chr9:193412..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 | copy number gain | See cases [RCV000240081] | Chr9:163131..141122114 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) | copy number gain | See cases [RCV000449375] | Chr9:62525..141006407 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 | copy number gain | See cases [RCV000447207] | Chr9:203861..141020389 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9q33.3-34.11(chr9:129079208-130851795)x1 | copy number loss | See cases [RCV000447376] | Chr9:129079208..130851795 [GRCh37] Chr9:9q33.3-34.11 |
pathogenic |
GRCh37/hg19 9q33.3-34.3(chr9:128652785-141044751)x3 | copy number gain | See cases [RCV000447080] | Chr9:128652785..141044751 [GRCh37] Chr9:9q33.3-34.3 |
pathogenic |
GRCh37/hg19 9q34.11(chr9:130390139-132760275)x1 | copy number loss | See cases [RCV000445837] | Chr9:130390139..132760275 [GRCh37] Chr9:9q34.11 |
pathogenic |
GRCh37/hg19 9q33.2-34.3(chr9:124642754-141146461)x3 | copy number gain | See cases [RCV000448784] | Chr9:124642754..141146461 [GRCh37] Chr9:9q33.2-34.3 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 | copy number gain | See cases [RCV000448978] | Chr9:203864..141020389 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928) | copy number gain | Global developmental delay [RCV000626548]|Seizures [RCV000626548] | Chr9:71069743..140999928 [GRCh37] Chr9:9q21.11-34.3 |
likely pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) | copy number gain | See cases [RCV000512392] | Chr9:203862..141020389 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 | copy number gain | not provided [RCV000748055] | Chr9:10590..141122247 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9q33.3-34.12(chr9:129370440-133866894)x1 | copy number loss | not provided [RCV000748671] | Chr9:129370440..133866894 [GRCh37] Chr9:9q33.3-34.12 |
pathogenic |
GRCh37/hg19 9q33.3-34.11(chr9:129522693-131410039)x1 | copy number loss | not provided [RCV000748677] | Chr9:129522693..131410039 [GRCh37] Chr9:9q33.3-34.11 |
benign |
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 | copy number gain | not provided [RCV000748053] | Chr9:10590..141107672 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 | copy number gain | not provided [RCV000748063] | Chr9:46587..141066491 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 | copy number gain | not provided [RCV000748054] | Chr9:10590..141114095 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 | copy number gain | not provided [RCV000845900] | Chr9:203861..141020388 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
NC_000009.11:g.(?_130374663)_(131329276_?)del | deletion | Early infantile epileptic encephalopathy [RCV000819894] | Chr9:127612384..128566997 [GRCh38] Chr9:130374663..131329276 [GRCh37] Chr9:9q34.11 |
pathogenic |
GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3 | copy number gain | not provided [RCV000847808] | Chr9:71416475..141020389 [GRCh37] Chr9:9q21.11-34.3 |
pathogenic |
NC_000009.11:g.(?_130216797)_(130953151_?)dup | duplication | Congenital disorder of glycosylation type 1u [RCV000821291] | Chr9:127454518..128190872 [GRCh38] Chr9:130216797..130953151 [GRCh37] Chr9:9q33.3-34.11 |
uncertain significance |
Database | Acc Id | Source(s) |
COSMIC | MIR2861 | COSMIC |
Ensembl Genes | ENSG00000284547 | ENTREZGENE |
Ensembl Transcript | ENST00000636310 | ENTREZGENE |
GTEx | ENSG00000284547 | GTEx |
HGNC ID | HGNC:38221 | ENTREZGENE |
Human Proteome Map | MIR2861 | Human Proteome Map |
miRBase | MI0013006 | ENTREZGENE |
NCBI Gene | 100422910 | ENTREZGENE |
OMIM | 613405 | OMIM |
613418 | OMIM | |
PharmGKB | PA165585840 | PharmGKB |
RNAcentral | URS00003B13B8 | RNACentral |
URS000075ADBF | RNACentral |
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NCBI Gene |
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Ensembl Gene |
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JBrowse: hg19 hg38 |
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NCBI Genome Data Viewer |
CRRD Object Information | |
CRRD ID: | 4108998 |
Created: | 2010-08-04 |
Species: | Homo sapiens |
Last Modified: | 2019-11-26 |
Status: | ACTIVE |
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