Gene Ontology Annotations Click to see Annotation Detail View
Biological Process Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | RNA processing | involved_in | IEA | Rfam:RF00600 | 150520179 | | RNAcentral | GO_REF:0000115 | |
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Gene Ontology Annotations Click to see Annotation Detail View
Biological Process Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | RNA processing | involved_in | IEA | Rfam:RF00600 | 150520179 | | RNAcentral | GO_REF:0000115 | |
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# | Reference Title | Reference Citation |
1. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
SNORA79 (Homo sapiens - human) |
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Gm24241 (Mus musculus - house mouse) |
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LOC120095776 (Rattus norvegicus - Norway rat) |
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LOC119873138 (Canis lupus familiaris - dog) |
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Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 14q24.1-31.1(chr14:69562099-81975384)x1 | copy number loss | See cases [RCV000134154] | Chr14:69562099..81975384 [GRCh38] Chr14:70028816..82441728 [GRCh37] Chr14:69098569..81511481 [NCBI36] Chr14:14q24.1-31.1 |
pathogenic |
GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3 | copy number gain | See cases [RCV000134000] | Chr14:73655772..106879298 [GRCh38] Chr14:74122475..107287505 [GRCh37] Chr14:73192228..106358550 [NCBI36] Chr14:14q24.3-32.33 |
pathogenic |
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 14q24.3-32.33(chr14:77222795-106879298)x3 | copy number gain | See cases [RCV000138230] | Chr14:77222795..106879298 [GRCh38] Chr14:77689138..107287505 [GRCh37] Chr14:76758891..106358550 [NCBI36] Chr14:14q24.3-32.33 |
pathogenic |
GRCh38/hg38 14q31.1-31.3(chr14:79330723-85885507)x3 | copy number gain | See cases [RCV000138323] | Chr14:79330723..85885507 [GRCh38] Chr14:79797066..86351851 [GRCh37] Chr14:78866819..85421604 [NCBI36] Chr14:14q31.1-31.3 |
likely pathogenic |
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 14q24.2-32.2(chr14:72787506-99596719)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052293]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052293]|See cases [RCV000052293] | Chr14:72787506..99596719 [GRCh38] Chr14:73254214..100063056 [GRCh37] Chr14:72323967..99132809 [NCBI36] Chr14:14q24.2-32.2 |
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 | sensory system | adipose tissue | appendage | entire extraembryonic component | |
High | ||||||||||||||||
Medium | 8 | 3 | 14 | 2 | ||||||||||||
Low | 79 | 61 | 79 | 30 | 218 | 26 | 235 | 39 | 117 | 24 | 142 | 168 | 8 | 34 | 72 | 1 |
Below cutoff | 155 | 189 | 164 | 46 | 117 | 24 | 319 | 106 | 230 | 34 | 171 | 181 | 25 | 80 | 188 | 2 |
RefSeq Acc Id: | ENST00000408376 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NR_003021 | ||||||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||||||
Type: | NON-CODING | ||||||||||||||||||||||||||||||||
Position: |
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Sequence: |
Database | Acc Id | Source(s) |
COSMIC | SNORA79 | COSMIC |
Ensembl Genes | ENSG00000221303 | Ensembl, ENTREZGENE |
Ensembl Transcript | ENST00000408376 | ENTREZGENE |
GTEx | ENSG00000221303 | GTEx |
HGNC ID | HGNC:32665 | ENTREZGENE |
Human Proteome Map | SNORA79 | Human Proteome Map |
NCBI Gene | 677845 | ENTREZGENE |
PharmGKB | PA144596281 | PharmGKB |
RNAcentral | URS00006868E5 | RNACentral |