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References
Genomics
miRNA Target Status
Predicted Targets
Summary Value | Count of predictions: | 41697 | Count of gene targets: | 15113 | Count of transcripts: | 32154 | Interacting mature miRNAs: | hsa-miR-6501-3p, hsa-miR-6501-5p | 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
Sequence
Nucleotide Sequences
Reference Sequences
RefSeq Acc Id: | ENST00000290239 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NR_106756 | ||||||||||||||||
RefSeq Status: | PROVISIONAL | ||||||||||||||||
Type: | NON-CODING | ||||||||||||||||
Position: |
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Sequence: |
Clinical Variants
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-42971047)x3 | copy number gain | See cases [RCV000133676] | Chr21:7749532..42971047 [GRCh38] Chr21:15499847..44391157 [GRCh37] Chr21:14421718..43264226 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic |
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653084)x3 | copy number gain | See cases [RCV000134727] | Chr21:7749532..46653084 [GRCh38] Chr21:15485038..48072996 [GRCh37] Chr21:14406909..46897424 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic |
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46649831)x3 | copy number gain | See cases [RCV000134509] | Chr21:7749532..46649831 [GRCh38] Chr21:14577835..48069743 [GRCh37] Chr21:13499706..46894171 [NCBI36] Chr21:21q11.2-22.3 |
pathogenic |
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3 | copy number gain | See cases [RCV000134119] | Chr21:7749532..46670440 [GRCh38] Chr21:15485038..48090352 [GRCh37] Chr21:14406909..46914780 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic |
GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3 | copy number gain | See cases [RCV000135310] | Chr21:7749532..46670346 [GRCh38] Chr21:34111831..48090258 [GRCh37] Chr21:33033702..46914686 [NCBI36] Chr21:21q22.11-22.3 |
pathogenic |
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46664250)x3 | copy number gain | See cases [RCV000134836] | Chr21:7749532..46664250 [GRCh38] Chr21:15485038..48084162 [GRCh37] Chr21:14406909..46908590 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic |
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3 | copy number gain | See cases [RCV000134842] | Chr21:7749532..46670440 [GRCh38] Chr21:15513244..48090352 [GRCh37] Chr21:14435115..46914780 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic |
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46660999)x3 | copy number gain | See cases [RCV000135448] | Chr21:7749532..46660999 [GRCh38] Chr21:15499847..48080911 [GRCh37] Chr21:14421718..46905339 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic |
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 | copy number gain | See cases [RCV000137255] | Chr21:7749532..46671060 [GRCh38] Chr21:35319225..48090972 [GRCh37] Chr21:34241095..46915400 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic |
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 | copy number gain | See cases [RCV000137337] | Chr21:7749532..46671060 [GRCh38] Chr21:10697897..48090972 [GRCh37] Chr21:1..46915400 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic |
GRCh38/hg38 21p11.2-q22.13(chr21:7749532-37653653)x1 | copy number loss | See cases [RCV000138095] | Chr21:7749532..37653653 [GRCh38] Chr21:15451032..39025955 [GRCh37] Chr21:14372903..37947825 [NCBI36] Chr21:21p11.2-q22.13 |
pathogenic |
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 | copy number gain | See cases [RCV000138216] | Chr21:7749532..46671060 [GRCh38] Chr21:10944001..48090972 [GRCh37] Chr21:9965872..46915400 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic |
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 | copy number gain | See cases [RCV000138436] | Chr21:7749532..46671060 [GRCh38] Chr21:15451032..48090972 [GRCh37] Chr21:14372903..46915400 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic|conflicting data from submitters |
GRCh38/hg38 21q22.11(chr21:33361172-34048047)x1 | copy number loss | See cases [RCV000140099] | Chr21:33361172..34048047 [GRCh38] Chr21:34733478..35420347 [GRCh37] Chr21:33655348..34342217 [NCBI36] Chr21:21q22.11 |
likely pathogenic |
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3 | copy number gain | See cases [RCV000140103] | Chr21:7749532..46670346 [GRCh38] Chr21:14577894..48090258 [GRCh37] Chr21:13499765..46914686 [NCBI36] Chr21:21q11.2-22.3 |
pathogenic |
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3 | copy number gain | See cases [RCV000141346] | Chr21:7749532..46698247 [GRCh38] Chr21:14577835..48118159 [GRCh37] Chr21:13499706..46942587 [NCBI36] Chr21:21q11.2-22.3 |
pathogenic |
GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3 | copy number gain | See cases [RCV000141827] | Chr21:7749532..46677460 [GRCh38] Chr21:28285299..48097372 [GRCh37] Chr21:27207170..46921800 [NCBI36] Chr21:21q21.3-22.3 |
uncertain significance |
GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1 | copy number loss | See cases [RCV000142427] | Chr21:7817158..46670440 [GRCh38] Chr21:15485038..48090352 [GRCh37] Chr21:14406909..46914780 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic |
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3 | copy number gain | See cases [RCV000143376] | Chr21:7749532..46677460 [GRCh38] Chr21:15006458..48097372 [GRCh37] Chr21:13928329..46921800 [NCBI36] Chr21:21q11.2-22.3 |
pathogenic |
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460) | copy number gain | See cases [RCV000143160] | Chr21:7749532..46677460 [GRCh38] Chr21:14386013..48097372 [GRCh37] Chr21:13307884..46921800 [NCBI36] Chr21:21q11.2-22.3 |
pathogenic |
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3 | copy number gain | See cases [RCV000143120] | Chr21:7749532..46677460 [GRCh38] Chr21:15006457..48097372 [GRCh37] Chr21:13928328..46921800 [NCBI36] Chr21:21q11.2-22.3 |
pathogenic |
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 | copy number gain | See cases [RCV000148131] | Chr21:7749532..46670405 [GRCh38] Chr21:15499847..48090317 [GRCh37] Chr21:14421718..46914745 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic |
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 | copy number gain | See cases [RCV000050445] | Chr21:7749532..46670405 [GRCh38] Chr21:15499847..48090317 [GRCh37] Chr21:14421718..46914745 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670546)x3 | copy number gain | See cases [RCV000053045] | Chr21:7749532..46670546 [GRCh38] Chr21:15499647..48090458 [GRCh37] Chr21:14421518..46914886 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic |
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3 | copy number gain | See cases [RCV000053065] | Chr21:7749532..46661140 [GRCh38] Chr21:15499647..48081052 [GRCh37] Chr21:14421518..46905480 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic |
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 | copy number gain | See cases [RCV000053068] | Chr21:7749532..46670405 [GRCh38] Chr21:20655360..48090317 [GRCh37] Chr21:19577231..46914745 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic |
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3 | copy number gain | See cases [RCV000053067] | Chr21:7749532..46661140 [GRCh38] Chr21:15499847..48081052 [GRCh37] Chr21:14421718..46905480 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic |
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 | copy number gain | See cases [RCV000053069] | Chr21:7749532..46670405 [GRCh38] Chr21:34423268..48090317 [GRCh37] Chr21:33345138..46914745 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic |
GRCh38/hg38 21q22.11(chr21:33437186-33767838)x3 | copy number gain | See cases [RCV000052797] | Chr21:33437186..33767838 [GRCh38] Chr21:34809493..35140142 [GRCh37] Chr21:33731363..34062012 [NCBI36] Chr21:21q22.11 |
uncertain significance |
GRCh38/hg38 21q22.11(chr21:33465408-33806416)x1 | copy number loss | See cases [RCV000052806] | Chr21:33465408..33806416 [GRCh38] Chr21:34837715..35178720 [GRCh37] Chr21:33759585..34100590 [NCBI36] Chr21:21q22.11 |
pathogenic |
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 | copy number gain | See cases [RCV000053039] | Chr21:7749532..46623792 [GRCh38] Chr21:14524963..48043704 [GRCh37] Chr21:13446834..46868132 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic |
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653090)x3 | copy number gain | See cases [RCV000053040] | Chr21:7749532..46653090 [GRCh38] Chr21:14539679..48073002 [GRCh37] Chr21:13461550..46897430 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic |
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 | copy number gain | See cases [RCV000053042] | Chr21:7749532..46623792 [GRCh38] Chr21:14595524..48043704 [GRCh37] Chr21:13517395..46868132 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic |
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 | copy number gain | See cases [RCV000053043] | Chr21:7749532..46623792 [GRCh38] Chr21:14629063..48043704 [GRCh37] Chr21:13550934..46868132 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic |
NM_001291412.2(SON):c.244+4339del | deletion | not provided [RCV000599543] | Chr21:33550718 [GRCh38] Chr21:34923024 [GRCh37] Chr21:21q22.11 |
pathogenic |
NM_138927.4(SON):c.1002_5016del (p.Glu335fs) | deletion | ZTTK syndrome [RCV000755178] | Chr21:33550230..33554244 [GRCh38] Chr21:34922536..34926550 [GRCh37] Chr21:21q22.11 |
likely pathogenic |
Additional Information
External Database Links
Database | Acc Id | Source(s) |
COSMIC | MIR6501 | COSMIC |
Ensembl Genes | ENSG00000284448 | Ensembl, ENTREZGENE |
Ensembl Transcript | ENST00000290239 | ENTREZGENE |
GTEx | ENSG00000284448 | GTEx |
HGNC ID | HGNC:50033 | ENTREZGENE |
Human Proteome Map | MIR6501 | Human Proteome Map |
miRBase | MI0022213 | ENTREZGENE |
NCBI Gene | MIR6501 | ENTREZGENE |
RNAcentral | URS000075BDAA | RNACentral |
URS000075C286 | RNACentral | |
URS000075EBDF | RNACentral |