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SNORA79B (Homo sapiens - human) |
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LOC119869434 (Canis lupus familiaris - dog) |
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Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3 | copy number gain | See cases [RCV000135543] | Chr14:20151149..106855263 [GRCh38] Chr14:20619308..107263478 [GRCh37] Chr14:19689148..106334523 [NCBI36] Chr14:14q11.2-32.33 |
pathogenic |
GRCh38/hg38 14q11.2(chr14:20127290-21376436)x3 | copy number gain | See cases [RCV000053804] | Chr14:20127290..21376436 [GRCh38] Chr14:20595449..21844595 [GRCh37] Chr14:19665289..20914435 [NCBI36] Chr14:14q11.2 |
pathogenic |
GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3 | copy number gain | See cases [RCV000053803] | Chr14:20000611..38984415 [GRCh38] Chr14:20468770..39453619 [GRCh37] Chr14:19538610..38523370 [NCBI36] Chr14:14q11.2-21.1 |
pathogenic |
GRCh38/hg38 14q11.2(chr14:19755249-22741281)x1 | copy number loss | See cases [RCV000051483] | Chr14:19755249..22741281 [GRCh38] Chr14:20223408..23210490 [GRCh37] Chr14:19293248..22280330 [NCBI36] Chr14:14q11.2 |
pathogenic |
GRCh38/hg38 14q11.2(chr14:20289246-20418076)x3 | copy number gain | See cases [RCV000136784] | Chr14:20289246..20418076 [GRCh38] Chr14:20757405..20886235 [GRCh37] Chr14:19827245..19956075 [NCBI36] Chr14:14q11.2 |
benign |
GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3 | copy number gain | See cases [RCV000143373] | Chr14:20043514..106877229 [GRCh38] Chr14:20511673..107285437 [GRCh37] Chr14:19581513..106356482 [NCBI36] Chr14:14q11.2-32.33 |
pathogenic |
GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3 | copy number gain | See cases [RCV000143748] | Chr14:20043513..48642042 [GRCh38] Chr14:20511672..49111245 [GRCh37] Chr14:19581512..48180995 [NCBI36] Chr14:14q11.2-21.3 |
pathogenic |
GRCh38/hg38 14q11.2(chr14:20151149-23442195)x3 | copy number gain | See cases [RCV000050914] | Chr14:20151149..23442195 [GRCh38] Chr14:20619308..23911404 [GRCh37] Chr14:19689148..22981244 [NCBI36] Chr14:14q11.2 |
pathogenic |
GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3 | copy number gain | See cases [RCV000143186] | Chr14:20022693..44093672 [GRCh38] Chr14:20490852..44562875 [GRCh37] Chr14:19560692..43632625 [NCBI36] Chr14:14q11.2-21.2 |
pathogenic |
GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1 | copy number loss | See cases [RCV000051485] | Chr14:20196945..45284802 [GRCh38] Chr14:20665104..45754005 [GRCh37] Chr14:19734944..44823755 [NCBI36] Chr14:14q11.2-21.2 |
pathogenic |
NC_000014.9:g.20013858_20436718dup | duplication | 14q11.2 microduplication syndrome [RCV001837230] | Chr14:20013858..20436718 [GRCh38] Chr14:14q11.2 |
uncertain significance |
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 | visual system | adipose tissue | appendage | entire extraembryonic component | pharyngeal arch | |
High | 2 | 2 | 1 | |||||||||||||||
Medium | 8 | 11 | 15 | 9 | 126 | 9 | 20 | 16 | 23 | 6 | 31 | 15 | 1 | 2 | ||||
Low | 1254 | 1306 | 886 | 336 | 739 | 247 | 2475 | 652 | 887 | 250 | 958 | 1188 | 103 | 1 | 698 | 1450 | 1 | 1 |
Below cutoff | 688 | 655 | 395 | 142 | 265 | 98 | 897 | 681 | 844 | 85 | 235 | 227 | 46 | 310 | 578 |
RefSeq Acc Id: | ENST00000410557 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NR_145735 | ||||||||||||
RefSeq Status: | PROVISIONAL | ||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
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Sequence: |
Database | Acc Id | Source(s) |
COSMIC | SNORA79B | COSMIC |
Ensembl Genes | ENSG00000222489 | Ensembl, ENTREZGENE |
Ensembl Transcript | ENST00000410557 | ENTREZGENE |
GTEx | ENSG00000222489 | GTEx |
HGNC ID | HGNC:52222 | ENTREZGENE |
Human Proteome Map | SNORA79B | Human Proteome Map |
NCBI Gene | SNORA79B | ENTREZGENE |
RNAcentral | URS0000704142 | RNACentral |