LOC148696 (uncharacterized LOC148696) - Rat Genome Database

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Gene: LOC148696 (uncharacterized LOC148696) Homo sapiens
Analyze
Symbol: LOC148696
Name: uncharacterized LOC148696
RGD ID: 38607836
Description: ASSOCIATED WITH Autism; autistic disorder
Type: ncrna
RefSeq Status: PREDICTED
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381207,818,379 - 207,822,596 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371207,991,724 - 207,995,941 (+)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map1q32.2NCBI
HuRef1178,665,938 - 178,670,155 (+)NCBIHuRef
CHM1_11209,264,082 - 209,268,299 (+)NCBICHM1_1
T2T-CHM13v2.01207,065,127 - 207,069,344 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Autism  (IAGP)
References
Additional References at PubMed
PMID:19396169   PMID:26760575  


Genomics


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3 copy number gain See cases [RCV000143727] Chr1:207346642..248930485 [GRCh38]
Chr1:207519987..249224684 [GRCh37]
Chr1:205586610..247191307 [NCBI36]
Chr1:1q32.2-44		 pathogenic
GRCh38/hg38 1q32.2(chr1:207583527-210159181)x1 copy number loss See cases [RCV000139025] Chr1:207583527..210159181 [GRCh38]
Chr1:207756872..210332526 [GRCh37]
Chr1:205823495..208399149 [NCBI36]
Chr1:1q32.2		 pathogenic
GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3 copy number gain See cases [RCV000142054] Chr1:204764914..225408698 [GRCh38]
Chr1:204734042..225596400 [GRCh37]
Chr1:203000665..223663023 [NCBI36]
Chr1:1q32.1-42.12		 pathogenic
GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3 copy number gain See cases [RCV000051857] Chr1:187143981..224299417 [GRCh38]
Chr1:187113113..224487119 [GRCh37]
Chr1:185379736..222553742 [NCBI36]
Chr1:1q31.1-42.11		 pathogenic
GRCh38/hg38 1q32.1-32.2(chr1:204990129-210220258)x3 copy number gain See cases [RCV000051859] Chr1:204990129..210220258 [GRCh38]
Chr1:204959257..210572305 [GRCh37]
Chr1:203225880..208638928 [NCBI36]
Chr1:1q32.1-32.2		 pathogenic
NC_000001.11:g.(?_204033173)_(208209798_?)del deletion Autism [RCV000754138] Chr1:204033173..208209798 [GRCh38]
Chr1:1q32.1-32.2		 likely pathogenic

Expression


Sequence


Reference Sequences
RefSeq Acc Id: NR_026817
RefSeq Status: PREDICTED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381207,818,379 - 207,822,596 (+)NCBI
T2T-CHM13v2.01207,065,127 - 207,069,344 (+)NCBI
Sequence:
Protein Sequences
GenBank Protein EAW93461 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences


Additional Information

Database Acc Id Source(s)
COSMIC LOC148696 COSMIC
GTEx LOC148696 GTEx
Human Proteome Map LOC148696 Human Proteome Map
NCBI Gene LOC148696 ENTREZGENE
RNAcentral URS000075B732 RNACentral