LOC101927269 (uncharacterized LOC101927269) - Rat Genome Database

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Gene: LOC101927269 (uncharacterized LOC101927269) Homo sapiens
Analyze
Symbol: LOC101927269
Name: uncharacterized LOC101927269
RGD ID: 38626949
Description: ASSOCIATED WITH epilepsy; Seizure
Type: ncrna
RefSeq Status: VALIDATED
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38780,371,517 - 80,374,439 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37780,000,833 - 80,003,755 (-)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map7q21.11NCBI
HuRef774,602,656 - 74,605,886 (-)NCBIHuRef
CHM1_1779,930,605 - 79,933,835 (-)NCBICHM1_1
T2T-CHM13v2.0781,622,848 - 81,625,770 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
epilepsy  (IAGP)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Seizure  (IAGP)
References
Additional References at PubMed
PMID:9847074   PMID:11752456  


Genomics


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 7q11.23-21.11(chr7:73873420-83988860)x1 copy number loss See cases [RCV000054118] Chr7:73873420..83988860 [GRCh38]
Chr7:73992744..83618176 [GRCh37]
Chr7:72925686..83456112 [NCBI36]
Chr7:7q11.23-21.11		 pathogenic
Single allele deletion Seizure [RCV000240951] Chr7:79708363..87161076 [GRCh38]
Chr7:79337679..86790392 [GRCh37]
Chr7:7q21.11-21.12		 pathogenic|likely pathogenic
GRCh38/hg38 7q11.22-21.11(chr7:71225344-81735657)x1 copy number loss See cases [RCV000050709] Chr7:71225344..81735657 [GRCh38]
Chr7:70690330..81364973 [GRCh37]
Chr7:70328266..81202909 [NCBI36]
Chr7:7q11.22-21.11		 pathogenic
GRCh38/hg38 7q11.23-21.11(chr7:74377395-82031742)x1 copy number loss See cases [RCV000142381] Chr7:74377395..82031742 [GRCh38]
Chr7:73992744..81661058 [GRCh37]
Chr7:73429661..81498994 [NCBI36]
Chr7:7q11.23-21.11		 pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic

Expression


Sequence


Reference Sequences
RefSeq Acc Id: NR_110075
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38780,371,517 - 80,374,439 (-)NCBI
T2T-CHM13v2.0781,622,848 - 81,625,770 (-)NCBI
Sequence:

Additional Information

Database Acc Id Source(s)
COSMIC LOC101927269 COSMIC
GTEx LOC101927269 GTEx
Human Proteome Map LOC101927269 Human Proteome Map
NCBI Gene LOC101927269 ENTREZGENE
RNAcentral URS000075CBD7 RNACentral