Gene Ontology Annotations Click to see Annotation Detail View
Cellular Component Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | extracellular space | located_in | HDA | | 150520179 | PMID:26646931 | BHF-UCL | PMID:26646931 | |
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Gene Ontology Annotations Click to see Annotation Detail View
Cellular Component Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | extracellular space | located_in | HDA | | 150520179 | PMID:26646931 | BHF-UCL | PMID:26646931 | |
PMID:16381832 | PMID:17616659 | PMID:19784364 | PMID:21037258 | PMID:23535732 | PMID:26646931 | PMID:28830367 |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 20q13.33(chr20:63199020-64277321)x3 | copy number gain | See cases [RCV000051131] | Chr20:63199020..64277321 [GRCh38] Chr20:61830372..62908674 [GRCh37] Chr20:61300817..62379118 [NCBI36] Chr20:20q13.33 |
pathogenic |
GRCh38/hg38 20q13.33(chr20:62561794-64277321)x1 | copy number loss | See cases [RCV000133842] | Chr20:62561794..64277321 [GRCh38] Chr20:61211869..62908674 [GRCh37] Chr20:60569446..62379118 [NCBI36] Chr20:20q13.33 |
pathogenic |
GRCh38/hg38 20q13.32-13.33(chr20:59041966-64277321)x3 | copy number gain | See cases [RCV000135805] | Chr20:59041966..64277321 [GRCh38] Chr20:57617021..62908674 [GRCh37] Chr20:57050416..62379118 [NCBI36] Chr20:20q13.32-13.33 |
pathogenic |
GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3 | copy number gain | See cases [RCV000135859] | Chr20:99557..64277321 [GRCh38] Chr20:80198..62908674 [GRCh37] Chr20:28198..62379118 [NCBI36] Chr20:20p13-q13.33 |
pathogenic |
GRCh38/hg38 20q13.33(chr20:63199020-64277321)x1 | copy number loss | See cases [RCV000135514] | Chr20:63199020..64277321 [GRCh38] Chr20:61830372..62908674 [GRCh37] Chr20:61300817..62379118 [NCBI36] Chr20:20q13.33 |
likely pathogenic |
GRCh38/hg38 20q13.33(chr20:63153963-64277321)x1 | copy number loss | See cases [RCV000137385] | Chr20:63153963..64277321 [GRCh38] Chr20:61785315..62908674 [GRCh37] Chr20:61255760..62379118 [NCBI36] Chr20:20q13.33 |
pathogenic |
GRCh38/hg38 20q13.2-13.33(chr20:56198032-64277321)x3 | copy number gain | See cases [RCV000138035] | Chr20:56198032..64277321 [GRCh38] Chr20:54773088..62908674 [GRCh37] Chr20:54206495..62379118 [NCBI36] Chr20:20q13.2-13.33 |
pathogenic |
GRCh38/hg38 20q13.33(chr20:61326549-64277326)x3 | copy number gain | See cases [RCV000139100] | Chr20:61326549..64277326 [GRCh38] Chr20:59901605..62908679 [GRCh37] Chr20:59335000..62379123 [NCBI36] Chr20:20q13.33 |
pathogenic |
GRCh38/hg38 20q13.31-13.33(chr20:57229415-64273089)x3 | copy number gain | See cases [RCV000141347] | Chr20:57229415..64273089 [GRCh38] Chr20:55804471..62904442 [GRCh37] Chr20:55237878..62374886 [NCBI36] Chr20:20q13.31-13.33 |
pathogenic |
GRCh38/hg38 20q13.33(chr20:62582073-64284202)x1 | copy number loss | See cases [RCV000141744] | Chr20:62582073..64284202 [GRCh38] Chr20:61179280..62915555 [GRCh37] Chr20:60589725..62385999 [NCBI36] Chr20:20q13.33 |
pathogenic |
GRCh38/hg38 20q13.33(chr20:63385523-64270639)x3 | copy number gain | See cases [RCV000141762] | Chr20:63385523..64270639 [GRCh38] Chr20:62016875..62901992 [GRCh37] Chr20:61487319..62372436 [NCBI36] Chr20:20q13.33 |
uncertain significance |
GRCh38/hg38 20q13.33(chr20:62663307-64284202)x1 | copy number loss | See cases [RCV000141676] | Chr20:62663307..64284202 [GRCh38] Chr20:61294659..62915555 [GRCh37] Chr20:60765104..62385999 [NCBI36] Chr20:20q13.33 |
pathogenic |
GRCh38/hg38 20q13.2-13.33(chr20:53236165-64284202)x3 | copy number gain | See cases [RCV000143584] | Chr20:53236165..64284202 [GRCh38] Chr20:51852704..62915555 [GRCh37] Chr20:51286111..62385999 [NCBI36] Chr20:20q13.2-13.33 |
likely pathogenic |
GRCh38/hg38 20q13.33(chr20:63827808-64100279)x3 | copy number gain | See cases [RCV000050998] | Chr20:63827808..64100279 [GRCh38] Chr20:62459161..62731632 [GRCh37] Chr20:61929605..62202076 [NCBI36] Chr20:20q13.33 |
uncertain significance |
GRCh38/hg38 20q13.33(chr20:62545370-64241486)x1 | copy number loss | See cases [RCV000052769] | Chr20:62545370..64241486 [GRCh38] Chr20:61142577..62872839 [GRCh37] Chr20:60553022..62343283 [NCBI36] Chr20:20q13.33 |
pathogenic |
GRCh38/hg38 20q13.33(chr20:63441478-64277321)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052772]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052772]|See cases [RCV000052772] | Chr20:63441478..64277321 [GRCh38] Chr20:62072831..62908674 [GRCh37] Chr20:61543275..62379118 [NCBI36] Chr20:20q13.33 |
pathogenic |
GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3 | copy number gain | See cases [RCV000053035] | Chr20:44787704..64277321 [GRCh38] Chr20:43416345..62908674 [GRCh37] Chr20:42849759..62379118 [NCBI36] Chr20:20q13.12-13.33 |
pathogenic |
alimentary part of gastrointestinal system | endocrine system | exocrine system | hemolymphoid system | hepatobiliary system | nervous system | renal system | reproductive system | respiratory system | |
High | |||||||||
Medium | 1 | 1 | |||||||
Low | 15 | 36 | 36 | 80 | 36 | 1 | 2 | 30 | |
Below cutoff | 6 | 4 | 4 | 5 | 4 | 3 | 1 |
RefSeq Acc Id: | ENST00000401322 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NR_030638 | ||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||
Type: | NON-CODING | ||||||||||||||||||||||||||||
Position: |
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Sequence: |
Database | Acc Id | Source(s) |
COSMIC | MIR941-2 | COSMIC |
Ensembl Genes | ENSG00000216141 | Ensembl, ENTREZGENE |
Ensembl Transcript | ENST00000401322 | ENTREZGENE |
GTEx | ENSG00000216141 | GTEx |
HGNC ID | HGNC:33685 | ENTREZGENE |
Human Proteome Map | MIR941-2 | Human Proteome Map |
miRBase | MI0005764 | ENTREZGENE |
NCBI Gene | 100126339 | ENTREZGENE |
PharmGKB | PA164723015 | PharmGKB |
RNAcentral | URS000050E4BA | RNACentral |
URS00007B5D6A | RNACentral |