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:RF00334 | 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:RF00334 | 150520179 | | RNAcentral | GO_REF:0000115 | |
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# | Reference Title | Reference Citation |
1. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
2. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:16361266 | PMID:16381836 | PMID:19446021 | PMID:22658674 | PMID:29117863 |
SNORA3B (Homo sapiens - human) |
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Snora3B (Rattus norvegicus - Norway rat) |
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Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 11p15.5-13(chr11:202758-31726224)x3 | copy number gain | See cases [RCV000053613] | Chr11:202758..31726224 [GRCh38] Chr11:202758..31747772 [GRCh37] Chr11:192758..31704348 [NCBI36] Chr11:11p15.5-13 |
pathogenic |
NM_000990.4(RPL27A):c.40C>T (p.His14Tyr) | single nucleotide variant | Malignant melanoma [RCV000069730] | Chr11:8683238 [GRCh38] Chr11:8704785 [GRCh37] Chr11:8661361 [NCBI36] Chr11:11p15.4 |
not provided |
GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3 | copy number gain | See cases [RCV000133997] | Chr11:446754..18904742 [GRCh38] Chr11:446754..18926289 [GRCh37] Chr11:436754..18882865 [NCBI36] Chr11:11p15.5-15.1 |
pathogenic |
GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3 | copy number gain | See cases [RCV000139987] | Chr11:61793..10727969 [GRCh38] Chr11:61793..10749516 [GRCh37] Chr11:51793..10706092 [NCBI36] Chr11:11p15.5-15.4 |
pathogenic |
GRCh38/hg38 11p15.4(chr11:7995676-10437205)x3 | copy number gain | See cases [RCV000143490] | Chr11:7995676..10437205 [GRCh38] Chr11:8017223..10458752 [GRCh37] Chr11:7973799..10415328 [NCBI36] Chr11:11p15.4 |
uncertain significance |
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) | copy number gain | See cases [RCV000511729] | Chr11:230616..134938470 [GRCh37] Chr11:11p15.5-q25 |
pathogenic |
GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3 | copy number gain | See cases [RCV000511561] | Chr11:230615..37698540 [GRCh37] Chr11:11p15.5-12 |
pathogenic |
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 | copy number gain | See cases [RCV000510881] | Chr11:230616..134938470 [GRCh37] Chr11:11p15.5-q25 |
pathogenic |
GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3 | copy number gain | See cases [RCV000512225] | Chr11:230615..25584362 [GRCh37] Chr11:11p15.5-14.3 |
pathogenic |
GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3 | copy number gain | See cases [RCV000512477] | Chr11:230615..31995219 [GRCh37] Chr11:11p15.5-13 |
pathogenic |
GRCh37/hg19 11p15.4(chr11:7837338-9295428)x3 | copy number gain | not provided [RCV000683357] | Chr11:7837338..9295428 [GRCh37] Chr11:11p15.4 |
uncertain significance |
GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3 | copy number gain | not provided [RCV000683372] | Chr11:230615..17099213 [GRCh37] Chr11:11p15.5-15.1 |
pathogenic |
GRCh37/hg19 11p15.4(chr11:6969013-9257231)x3 | copy number gain | not provided [RCV000683360] | Chr11:6969013..9257231 [GRCh37] Chr11:11p15.4 |
pathogenic |
GRCh37/hg19 11p15.5-15.4(chr11:230615-9704511)x3 | copy number gain | not provided [RCV000683369] | Chr11:230615..9704511 [GRCh37] Chr11:11p15.5-15.4 |
pathogenic |
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 | copy number gain | not provided [RCV000737348] | Chr11:198510..134934063 [GRCh37] Chr11:11p15.5-q25 |
pathogenic |
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 | copy number gain | not provided [RCV000749874] | Chr11:70864..134938470 [GRCh37] Chr11:11p15.5-q25 |
pathogenic |
GRCh37/hg19 11p15.4(chr11:8691402-8933010)x3 | copy number gain | not provided [RCV000737416] | Chr11:8691402..8933010 [GRCh37] Chr11:11p15.4 |
benign |
GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136) | copy number gain | Silver-Russell syndrome 1 [RCV000767567] | Chr11:193146..12643136 [GRCh37] Chr11:11p15.5-15.3 |
pathogenic |
GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3 | copy number gain | not provided [RCV001006372] | Chr11:235934..33826995 [GRCh37] Chr11:11p15.5-13 |
pathogenic |
GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3 | copy number gain | See cases [RCV002286351] | Chr11:230615..26881146 [GRCh37] Chr11:11p15.5-14.2 |
pathogenic |
GRCh37/hg19 11p15.5-15.4(chr11:230615-8821443)x3 | copy number gain | Russell-Silver syndrome [RCV003444025] | Chr11:230615..8821443 [GRCh37] Chr11:11p15.5-15.4 |
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. |
D11S4394 |
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RP_L27A_1 |
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MARC_1767-1768:991931306:1 |
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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 | 30 | 26 | 61 | 27 | 317 | 27 | 67 | 9 | 26 | 18 | 176 | 82 | 4 | 17 | ||
Low | 2308 | 2432 | 1584 | 546 | 1424 | 389 | 3737 | 1495 | 2839 | 346 | 1235 | 1485 | 169 | 1183 | 2259 | 4 |
Below cutoff | 65 | 372 | 47 | 26 | 84 | 25 | 331 | 462 | 632 | 25 | 18 | 12 | 1 | 13 | 318 |
RefSeq Acc Id: | ENST00000391305 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NR_002977 | ||||||||||||||||||||||||||||||||
RefSeq Status: | PROVISIONAL | ||||||||||||||||||||||||||||||||
Type: | NON-CODING | ||||||||||||||||||||||||||||||||
Position: |
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Sequence: |
Database | Acc Id | Source(s) |
COSMIC | SNORA3B | COSMIC |
Ensembl Genes | ENSG00000212607 | Ensembl, ENTREZGENE |
Ensembl Transcript | ENST00000391305 | ENTREZGENE |
GTEx | ENSG00000212607 | GTEx |
HGNC ID | HGNC:32638 | ENTREZGENE |
Human Proteome Map | SNORA3B | Human Proteome Map |
NCBI Gene | 677826 | ENTREZGENE |
OMIM | 611333 | OMIM |
RNAcentral | URS0000451E99 | RNACentral |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
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2015-11-17 | SNORA3B | small nucleolar RNA, H/ACA box 3B | SNORA45B | small nucleolar RNA, H/ACA box 45B | Symbol and/or name change | 5135510 | APPROVED |
2014-09-17 | SNORA45B | small nucleolar RNA, H/ACA box 45B | SNORA45 | small nucleolar RNA, H/ACA box 45 | Symbol and/or name change | 5135510 | APPROVED |