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:RF00056 | 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:RF00056 | 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 |
SNORA71E (Homo sapiens - human) |
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Gm25187 (Mus musculus - house mouse) |
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Snora71e (Rattus norvegicus - Norway rat) |
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LOC119865796 (Canis lupus familiaris - dog) |
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Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3 | copy number gain | See cases [RCV000135859] | Chr20:99557..64277321 [GRCh38] Chr20:80198..62908674 [GRCh37] Chr20:28198..62379118 [NCBI36] Chr20:20p13-q13.33 |
pathogenic |
GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1 | copy number loss | See cases [RCV000140816] | Chr20:35237946..47631818 [GRCh38] Chr20:33825749..46260562 [GRCh37] Chr20:33289165..45693969 [NCBI36] Chr20:20q11.22-13.12 |
pathogenic |
GRCh38/hg38 20q11.22-12(chr20:34541747-39663219)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052766]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052766]|See cases [RCV000052766] | Chr20:34541747..39663219 [GRCh38] Chr20:33129551..38291861 [GRCh37] Chr20:32593212..37725275 [NCBI36] Chr20:20q11.22-12 |
pathogenic |
GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3 | copy number gain | See cases [RCV000052999] | Chr20:9811433..39316956 [GRCh38] Chr20:9792081..37945599 [GRCh37] Chr20:9740081..37379013 [NCBI36] Chr20:20p12.2-q12 |
pathogenic |
GRCh38/hg38 20q11.22-13.11(chr20:34249453-43359749)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053002]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053002]|See cases [RCV000053002] | Chr20:34249453..43359749 [GRCh38] Chr20:32837259..41988389 [GRCh37] Chr20:32300920..41421803 [NCBI36] Chr20:20q11.22-13.11 |
pathogenic |
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 | |
High | |||||||||||||||
Medium | |||||||||||||||
Low | 1126 | 631 | 890 | 171 | 332 | 77 | 1974 | 526 | 1361 | 34 | 690 | 770 | 94 | 539 | 1207 |
Below cutoff | 611 | 774 | 297 | 140 | 247 | 93 | 767 | 544 | 983 | 38 | 237 | 190 | 47 | 295 | 488 |
RefSeq Acc Id: | ENST00000365032 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NR_002972 | ||||||||||||||||||||||||||||||||
RefSeq Status: | PROVISIONAL | ||||||||||||||||||||||||||||||||
Type: | NON-CODING | ||||||||||||||||||||||||||||||||
Position: |
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Sequence: |
RGD ID: | 6799085 | ||||||||
Promoter ID: | HG_KWN:39394 | ||||||||
Type: | Non-CpG | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | K562, Lymphoblastoid, NB4 | ||||||||
Transcripts: | UC002XIP.2 | ||||||||
Position: |
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Database | Acc Id | Source(s) |
COSMIC | SNORA71E | COSMIC |
Ensembl Genes | ENSG00000274309 | Ensembl, ENTREZGENE |
Ensembl Transcript | ENST00000365032 | ENTREZGENE |
GTEx | ENSG00000274309 | GTEx |
HGNC ID | HGNC:32632 | ENTREZGENE |
Human Proteome Map | SNORA71E | Human Proteome Map |
NCBI Gene | 677821 | ENTREZGENE |
RNAcentral | URS00005B5A80 | RNACentral |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
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2014-08-26 | SNORA71E | small nucleolar RNA, H/ACA box 71E | SNORA39 | small nucleolar RNA, H/ACA box 39 | Symbol and/or name change | 5135510 | APPROVED |