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Imported Disease Annotations - CTDObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | MIR496 | Human | papillary thyroid carcinoma | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:28030816 | |
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Imported Disease Annotations - CTDObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | MIR496 | Human | papillary thyroid carcinoma | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:28030816 | |
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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:15965474 | PMID:16381832 | PMID:17604727 | PMID:21037258 | PMID:24204564 | PMID:27097372 | PMID:29266795 | PMID:29935424 | PMID:30597231 | PMID:30811087 | PMID:30998968 | PMID:31273789 |
PMID:31421833 | PMID:31436348 | PMID:31848324 | PMID:32271424 | PMID:33548006 | PMID:33832090 | PMID:34038061 | PMID:34895039 | PMID:35032277 | PMID:38523522 | PMID:38546290 |
MIR496 (Homo sapiens - human) |
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Mir496a (Mus musculus - house mouse) |
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Mir496 (Rattus norvegicus - Norway rat) |
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MIR496 (Canis lupus familiaris - dog) |
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Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 14q32.2-32.33(chr14:99831655-106855263)x1 | copy number loss | See cases [RCV000133831] | Chr14:99831655..106855263 [GRCh38] Chr14:100297992..107263478 [GRCh37] Chr14:99367745..106334523 [NCBI36] Chr14:14q32.2-32.33 |
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 14q32.2-32.33(chr14:100309382-105987610)x3 | copy number gain | See cases [RCV000135410] | Chr14:100309382..105987610 [GRCh38] Chr14:100775719..106453697 [GRCh37] Chr14:99845472..105524742 [NCBI36] Chr14:14q32.2-32.33 |
pathogenic |
GRCh38/hg38 14q32.2-32.33(chr14:97638520-106855263)x3 | copy number gain | See cases [RCV000135400] | Chr14:97638520..106855263 [GRCh38] Chr14:98104857..107263478 [GRCh37] Chr14:97174610..106334523 [NCBI36] Chr14:14q32.2-32.33 |
pathogenic |
GRCh38/hg38 14q32.2-32.33(chr14:99448012-106850609)x3 | copy number gain | See cases [RCV000135875] | Chr14:99448012..106850609 [GRCh38] Chr14:99914349..107258824 [GRCh37] Chr14:98984102..106329869 [NCBI36] Chr14:14q32.2-32.33 |
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 14q32.12-32.33(chr14:92540983-104863658)x3 | copy number gain | See cases [RCV000135896] | Chr14:92540983..104863658 [GRCh38] Chr14:93007328..105329995 [GRCh37] Chr14:92077081..104401040 [NCBI36] Chr14:14q32.12-32.33 |
pathogenic |
GRCh38/hg38 14q32.13-32.33(chr14:95524407-106879501)x1 | copy number loss | See cases [RCV000136032] | Chr14:95524407..106879501 [GRCh38] Chr14:95990744..107287708 [GRCh37] Chr14:95060497..106358753 [NCBI36] Chr14:14q32.13-32.33 |
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 14q32.2-32.31(chr14:100262836-102500697)x1 | copy number loss | See cases [RCV000139723] | Chr14:100262836..102500697 [GRCh38] Chr14:100729173..102967034 [GRCh37] Chr14:99798926..102036787 [NCBI36] Chr14:14q32.2-32.31 |
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 14q32.2-32.33(chr14:100582059-106877229)x1 | copy number loss | See cases [RCV000143662] | Chr14:100582059..106877229 [GRCh38] Chr14:101048396..107285437 [GRCh37] Chr14:100118149..106356482 [NCBI36] Chr14:14q32.2-32.33 |
pathogenic |
NC_000014.9:g.100806482_101281031del474550 | deletion | Paternal uniparental disomy of chromosome 14 [RCV000149429] | Chr14:100806482..101281031 [GRCh38] Chr14:101272819..101747368 [GRCh37] Chr14:14q32.2-32.31 |
pathogenic |
GRCh38/hg38 14q32.2-32.33(chr14:100590353-106855264)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051553]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051553]|See cases [RCV000051553] | Chr14:100590353..106855264 [GRCh38] Chr14:101056690..107263479 [GRCh37] Chr14:100126443..106334524 [NCBI36] Chr14:14q32.2-32.33 |
pathogenic |
GRCh38/hg38 14q32.2-32.33(chr14:97938637-106855263)x1 | copy number loss | See cases [RCV000050696] | Chr14:97938637..106855263 [GRCh38] Chr14:98404974..107263478 [GRCh37] Chr14:97474727..106334523 [NCBI36] Chr14:14q32.2-32.33 |
pathogenic |
GRCh38/hg38 14q32.2-32.33(chr14:100808300-106855263)x1 | copy number loss | See cases [RCV000051113] | Chr14:100808300..106855263 [GRCh38] Chr14:101274637..107263478 [GRCh37] Chr14:100344390..106334523 [NCBI36] Chr14:14q32.2-32.33 |
pathogenic |
GRCh38/hg38 14q32.2-32.33(chr14:100309382-106855263)x1 | copy number loss | See cases [RCV000050938] | Chr14:100309382..106855263 [GRCh38] Chr14:100775719..107263478 [GRCh37] Chr14:99845472..106334523 [NCBI36] Chr14:14q32.2-32.33 |
pathogenic |
GRCh38/hg38 14q31.2-32.33(chr14:83912345-106855405)x3 | copy number gain | See cases [RCV000052294] | Chr14:83912345..106855405 [GRCh38] Chr14:84378689..107263620 [GRCh37] Chr14:83448442..106334665 [NCBI36] Chr14:14q31.2-32.33 |
pathogenic |
GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3 | copy number gain | See cases [RCV000052295] | Chr14:86094030..106832642 [GRCh38] Chr14:86560374..107240869 [GRCh37] Chr14:85630127..106311914 [NCBI36] Chr14:14q31.3-32.33 |
pathogenic |
GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3 | copy number gain | See cases [RCV000052296] | Chr14:91455861..106832642 [GRCh38] Chr14:91922205..107240869 [GRCh37] Chr14:90991958..106311914 [NCBI36] Chr14:14q32.12-32.33 |
pathogenic |
GRCh38/hg38 14q32.13-32.33(chr14:94628219-106451054)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052298]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052298]|See cases [RCV000052298] | Chr14:94628219..106451054 [GRCh38] Chr14:95094556..106906960 [GRCh37] Chr14:94164309..105978005 [NCBI36] Chr14:14q32.13-32.33 |
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. |
adipose tissue
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alimentary part of gastrointestinal system
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appendage
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circulatory system
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ectoderm
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endocrine system
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endoderm
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entire extraembryonic component
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exocrine system
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hemolymphoid system
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hepatobiliary system
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integumental system
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mesenchyme
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mesoderm
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musculoskeletal system
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nervous system
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renal system
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reproductive system
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respiratory system
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sensory system
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14 | 18 | 12 | 5 | 96 | 45 | 39 | 2 | 8 | 17 | 6 | 14 | 69 | 62 | 9 | 76 | 6 | 50 | 31 | 3 |
Ensembl Acc Id: | ENST00000385226 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NR_030176 | ||||||||||||||||||||||||||||
RefSeq Status: | PROVISIONAL | ||||||||||||||||||||||||||||
Type: | NON-CODING | ||||||||||||||||||||||||||||
Position: |
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Sequence: |
Database | Acc Id | Source(s) |
AGR Gene | HGNC:32086 | AgrOrtholog |
COSMIC | MIR496 | COSMIC |
Ensembl Genes | ENSG00000207961 | Ensembl, ENTREZGENE |
Ensembl Transcript | ENST00000385226 | ENTREZGENE |
GTEx | ENSG00000207961 | GTEx |
HGNC ID | HGNC:32086 | ENTREZGENE |
Human Proteome Map | MIR496 | Human Proteome Map |
miRBase | MI0003136 | ENTREZGENE |
NCBI Gene | 574454 | ENTREZGENE |
PharmGKB | PA164722742 | PharmGKB |
RNAcentral | URS000003BF62 | RNACentral |
URS000075BE7B | RNACentral |