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 | |
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PMID:16381832 | PMID:20733160 | PMID:21037258 | PMID:21199797 | PMID:22454130 | PMID:23535732 | PMID:26646931 | PMID:34550352 |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 3q11.1-13.31(chr3:93819623-116887056)x1 | copy number loss | See cases [RCV000135320] | Chr3:93819623..116887056 [GRCh38] Chr3:93538467..116605903 [GRCh37] Chr3:95021157..118088593 [NCBI36] Chr3:3q11.1-13.31 |
pathogenic |
GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3 | copy number gain | See cases [RCV000134948] | Chr3:103426882..198110178 [GRCh38] Chr3:103145726..197837049 [GRCh37] Chr3:104628416..199321446 [NCBI36] Chr3:3q13.11-29 |
pathogenic |
GRCh38/hg38 3q13.2-13.31(chr3:112465096-115774102)x1 | copy number loss | See cases [RCV000135592] | Chr3:112465096..115774102 [GRCh38] Chr3:112183943..115492949 [GRCh37] Chr3:113666633..116975639 [NCBI36] Chr3:3q13.2-13.31 |
likely pathogenic |
GRCh38/hg38 3q11.2-13.31(chr3:97795369-115663349)x1 | copy number loss | See cases [RCV000138186] | Chr3:97795369..115663349 [GRCh38] Chr3:97514213..115382196 [GRCh37] Chr3:98996903..116864886 [NCBI36] Chr3:3q11.2-13.31 |
pathogenic|uncertain significance |
GRCh38/hg38 3q13.2-13.31(chr3:112465094-115774111)x1 | copy number loss | See cases [RCV000138434] | Chr3:112465094..115774111 [GRCh38] Chr3:112183941..115492958 [GRCh37] Chr3:113666631..116975648 [NCBI36] Chr3:3q13.2-13.31 |
pathogenic |
GRCh38/hg38 3q13.2-21.3(chr3:112620977-128734134)x1 | copy number loss | See cases [RCV000139033] | Chr3:112620977..128734134 [GRCh38] Chr3:112339824..128452977 [GRCh37] Chr3:113822514..129935667 [NCBI36] Chr3:3q13.2-21.3 |
pathogenic |
GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3 | copy number gain | See cases [RCV000142340] | Chr3:93800620..145695381 [GRCh38] Chr3:93519464..145413168 [GRCh37] Chr3:95002154..146895858 [NCBI36] Chr3:3q11.1-24 |
pathogenic |
GRCh38/hg38 3q13.2-13.31(chr3:112425234-115795585)x1 | copy number loss | See cases [RCV000142219] | Chr3:112425234..115795585 [GRCh38] Chr3:112144081..115514432 [GRCh37] Chr3:113626771..116997122 [NCBI36] Chr3:3q13.2-13.31 |
pathogenic |
GRCh38/hg38 3q13.2-13.33(chr3:112520553-120031022)x1 | copy number loss | See cases [RCV000142725] | Chr3:112520553..120031022 [GRCh38] Chr3:112239400..119749869 [GRCh37] Chr3:113722090..121232559 [NCBI36] Chr3:3q13.2-13.33 |
pathogenic |
GRCh38/hg38 3q13.11-13.31(chr3:104621220-116093884)x3 | copy number gain | See cases [RCV000051722] | Chr3:104621220..116093884 [GRCh38] Chr3:104340064..115812731 [GRCh37] Chr3:105822754..117295421 [NCBI36] Chr3:3q13.11-13.31 |
pathogenic |
GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1 | copy number loss | See cases [RCV000051543] | Chr3:93886671..123216683 [GRCh38] Chr3:93605515..122935530 [GRCh37] Chr3:95088205..124418220 [NCBI36] Chr3:3q11.1-21.1 |
pathogenic |
GRCh38/hg38 3q13.13-13.31(chr3:108242572-116169331)x1 | copy number loss | See cases [RCV000051544] | Chr3:108242572..116169331 [GRCh38] Chr3:107961419..115888178 [GRCh37] Chr3:109444109..117370868 [NCBI36] Chr3:3q13.13-13.31 |
pathogenic |
GRCh38/hg38 3q13.2-13.31(chr3:112479482-115774102)x1 | copy number loss | See cases [RCV000051545] | Chr3:112479482..115774102 [GRCh38] Chr3:112198329..115492949 [GRCh37] Chr3:113681019..116975639 [NCBI36] Chr3:3q13.2-13.31 |
pathogenic |
GRCh38/hg38 3q13.2-13.31(chr3:112168829-117393356)x1 | copy number loss | See cases [RCV000050766] | Chr3:112168829..117393356 [GRCh38] Chr3:111887676..117112203 [GRCh37] Chr3:113370366..118594893 [NCBI36] Chr3:3q13.2-13.31 |
pathogenic |
GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1 | copy number loss | Chromosome 3q13.31 deletion syndrome [RCV003327614] | Chr3:93979547..124774010 [GRCh38] Chr3:3q11.1-21.2 |
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 | adipose tissue | appendage | |
High | ||||||||||||||
Medium | 3 | 33 | ||||||||||||
Low | 36 | 8 | 9 | 5 | 219 | 6 | 4 | 5 | 10 | 10 | 17 | 16 | 2 | 2 |
Below cutoff | 10 | 2 | 13 | 1 | 2 | 3 | 2 | 1 | 2 | 6 | 1 | 1 |
RefSeq Acc Id: | ENST00000578505 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NR_039648 | ||||||||||||||||||||||||
RefSeq Status: | PROVISIONAL | ||||||||||||||||||||||||
Type: | NON-CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
Database | Acc Id | Source(s) |
COSMIC | MIR4446 | COSMIC |
Ensembl Genes | ENSG00000265253 | Ensembl, ENTREZGENE |
Ensembl Transcript | ENST00000578505 | ENTREZGENE |
GTEx | ENSG00000265253 | GTEx |
HGNC ID | HGNC:41700 | ENTREZGENE |
Human Proteome Map | MIR4446 | Human Proteome Map |
miRBase | MI0016789 | ENTREZGENE |
NCBI Gene | 100616476 | ENTREZGENE |
RNAcentral | URS000000EF0B | RNACentral |
URS00001BDD9A | RNACentral | |
URS000075A805 | RNACentral |