Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | hepatitis B | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:28545106 | |
|
Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | hepatitis B | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:28545106 | |
|
|
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 15q24.1-24.2(chr15:72671629-75199803)x1 | copy number loss | See cases [RCV000137347] | Chr15:72671629..75199803 [GRCh38] Chr15:72963970..75492144 [GRCh37] Chr15:70751023..73279197 [NCBI36] Chr15:15q24.1-24.2 |
likely pathogenic|likely benign |
GRCh38/hg38 15q23-25.1(chr15:70025300-78705993)x1 | copy number loss | See cases [RCV000141666] | Chr15:70025300..78705993 [GRCh38] Chr15:70317639..78998335 [GRCh37] Chr15:68104693..76785390 [NCBI36] Chr15:15q23-25.1 |
pathogenic |
GRCh38/hg38 15q24.1-24.2(chr15:72685231-75727625)x1 | copy number loss | See cases [RCV000141573] | Chr15:72685231..75727625 [GRCh38] Chr15:72977572..76019966 [GRCh37] Chr15:70764625..73807021 [NCBI36] Chr15:15q24.1-24.2 |
pathogenic |
GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3 | copy number gain | See cases [RCV000143019] | Chr15:72154949..101920998 [GRCh38] Chr15:72447290..102461201 [GRCh37] Chr15:70234344..100278724 [NCBI36] Chr15:15q23-26.3 |
pathogenic |
GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3 | copy number gain | See cases [RCV000142915] | Chr15:59828460..101920998 [GRCh38] Chr15:60120659..102461201 [GRCh37] Chr15:57907951..100278724 [NCBI36] Chr15:15q22.2-26.3 |
pathogenic |
GRCh38/hg38 15q24.1-24.2(chr15:72671629-75242989)x1 | copy number loss | See cases [RCV000142748] | Chr15:72671629..75242989 [GRCh38] Chr15:72963970..75535330 [GRCh37] Chr15:70751023..73322383 [NCBI36] Chr15:15q24.1-24.2 |
pathogenic |
GRCh38/hg38 15q24.1-24.2(chr15:72671629-75662276)x1 | copy number loss | See cases [RCV000051128] | Chr15:72671629..75662276 [GRCh38] Chr15:72963970..75954617 [GRCh37] Chr15:70751023..73741672 [NCBI36] Chr15:15q24.1-24.2 |
pathogenic |
GRCh38/hg38 15q24.1-24.2(chr15:72629028-75242989)x3 | copy number gain | See cases [RCV000051821] | Chr15:72629028..75242989 [GRCh38] Chr15:72921369..75535330 [GRCh37] Chr15:70708423..73322383 [NCBI36] Chr15:15q24.1-24.2 |
pathogenic |
GRCh38/hg38 15q23-24.2(chr15:70788624-76057736)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053219]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053219]|See cases [RCV000053219] | Chr15:70788624..76057736 [GRCh38] Chr15:71080963..76350077 [GRCh37] Chr15:68868017..74137132 [NCBI36] Chr15:15q23-24.2 |
pathogenic |
GRCh38/hg38 15q24.1-24.2(chr15:74106871-75727625)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053220]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053220]|See cases [RCV000053220] | Chr15:74106871..75727625 [GRCh38] Chr15:74399212..76019966 [GRCh37] Chr15:72186265..73807021 [NCBI36] Chr15:15q24.1-24.2 |
pathogenic |
Single allele | duplication | Schizophrenia [RCV000754166] | Chr15:72640623..75277317 [GRCh38] Chr15:15q24.1-24.2 |
likely pathogenic |
Single allele | duplication | Schizophrenia [RCV000754167] | Chr15:74071509..77878298 [GRCh38] Chr15:15q24.1-24.3 |
likely 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 | 35 | 1 | 1 | ||||||||||||
Low | 25 | 15 | 27 | 7 | 234 | 10 | 100 | 11 | 75 | 12 | 47 | 57 | 3 | 8 | 50 | 2 |
Below cutoff | 15 | 12 | 6 | 1 | 39 | 43 | 21 | 49 | 7 | 22 | 15 | 1 | 7 | 16 |
RefSeq Acc Id: | ENST00000616450 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | NR_106941 | ||||||||||||||||||||
RefSeq Status: | PROVISIONAL | ||||||||||||||||||||
Type: | NON-CODING | ||||||||||||||||||||
Position: |
|
||||||||||||||||||||
Sequence: |
Database | Acc Id | Source(s) |
COSMIC | MIR6881 | COSMIC |
Ensembl Genes | ENSG00000277391 | Ensembl, ENTREZGENE |
Ensembl Transcript | ENST00000616450 | ENTREZGENE |
GTEx | ENSG00000277391 | GTEx |
HGNC ID | HGNC:50098 | ENTREZGENE |
Human Proteome Map | MIR6881 | Human Proteome Map |
miRBase | MI0022728 | ENTREZGENE |
NCBI Gene | MIR6881 | ENTREZGENE |
RNAcentral | URS000075D12C | RNACentral |
URS000075DCF1 | RNACentral | |
URS000075E4E6 | RNACentral |