LOC105369595 (uncharacterized LOC105369595) - Rat Genome Database

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Gene: LOC105369595 (uncharacterized LOC105369595) Homo sapiens
Analyze
Symbol: LOC105369595
Name: uncharacterized LOC105369595
RGD ID: 38634230
Description: ASSOCIATED WITH Hyperphosphatemic Familial Tumoral Calcinosis 1
Type: ncrna
RefSeq Status: VALIDATED
Previously known as: AC006205.2; novel transcript
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3812585,698 - 586,486 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl12585,865 - 586,486 (-)NCBIGRCh38hg38GRCh38
GRCh3712694,864 - 695,652 (-)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map12p13.33NCBI
CHM1_112693,397 - 694,186 (-)NCBICHM1_1
T2T-CHM13v2.012581,683 - 582,472 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

References
Additional References at PubMed
PMID:8889549  


Genomics


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 12p13.33(chr12:465561-726258)x3 copy number gain See cases [RCV000133855] Chr12:465561..726258 [GRCh38]
Chr12:574727..835424 [GRCh37]
Chr12:444988..705685 [NCBI36]
Chr12:12p13.33		 benign
GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3 copy number gain See cases [RCV000053660] Chr12:77187..34380176 [GRCh38]
Chr12:282465..34533111 [GRCh37]
Chr12:56614..34424378 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4 copy number gain See cases [RCV000142149] Chr12:64620..34682902 [GRCh38]
Chr12:173786..34835837 [GRCh37]
Chr12:44047..34727104 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.33(chr12:99592-1786491)x1 copy number loss See cases [RCV000052745] Chr12:99592..1786491 [GRCh38]
Chr12:282465..1895657 [GRCh37]
Chr12:79019..1765918 [NCBI36]
Chr12:12p13.33		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3 copy number gain See cases [RCV000136611] Chr12:121255..34603274 [GRCh38]
Chr12:282465..34756209 [GRCh37]
Chr12:100682..34647476 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4 copy number gain See cases [RCV000053666] Chr12:212976..33926913 [GRCh38]
Chr12:322142..34079848 [GRCh37]
Chr12:192403..33971115 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.33(chr12:54427-936828)x1 copy number loss See cases [RCV000138189] Chr12:54427..936828 [GRCh38]
Chr12:282465..1045994 [GRCh37]
Chr12:33854..916255 [NCBI36]
Chr12:12p13.33		 uncertain significance
GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3 copy number gain See cases [RCV000053662] Chr12:80412..25470329 [GRCh38]
Chr12:282465..25623263 [GRCh37]
Chr12:59839..25514530 [NCBI36]
Chr12:12p13.33-12.1		 pathogenic
GRCh38/hg38 12p13.33-13.31(chr12:121055-7272606)x3 copy number gain See cases [RCV000053663] Chr12:121055..7272606 [GRCh38]
Chr12:282465..7425202 [GRCh37]
Chr12:100482..7316469 [NCBI36]
Chr12:12p13.33-13.31		 pathogenic
GRCh38/hg38 12p13.33-13.32(chr12:199896-3284963)x3 copy number gain See cases [RCV000053665] Chr12:199896..3284963 [GRCh38]
Chr12:309062..3394129 [GRCh37]
Chr12:179323..3264390 [NCBI36]
Chr12:12p13.33-13.32		 pathogenic
GRCh38/hg38 12p13.33-13.31(chr12:199896-5807366)x1 copy number loss See cases [RCV000136848] Chr12:199896..5807366 [GRCh38]
Chr12:309062..5916532 [GRCh37]
Chr12:179323..5786793 [NCBI36]
Chr12:12p13.33-13.31		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4 copy number gain See cases [RCV000139787] Chr12:54427..34608071 [GRCh38]
Chr12:282465..34761006 [GRCh37]
Chr12:33854..34652273 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.33-13.31(chr12:418421-6235914)x3 copy number gain See cases [RCV000143357] Chr12:418421..6235914 [GRCh38]
Chr12:527587..6345080 [GRCh37]
Chr12:397848..6215341 [NCBI36]
Chr12:12p13.33-13.31		 pathogenic
GRCh38/hg38 12p13.33(chr12:431903-1521472)x3 copy number gain See cases [RCV000138907] Chr12:431903..1521472 [GRCh38]
Chr12:541069..1630638 [GRCh37]
Chr12:411330..1500899 [NCBI36]
Chr12:12p13.33		 uncertain significance
GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3 copy number gain See cases [RCV000139052] Chr12:121271..34603261 [GRCh38]
Chr12:282465..34756196 [GRCh37]
Chr12:100698..34647463 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.33(chr12:121255-3003320)x1 copy number loss See cases [RCV000142595] Chr12:121255..3003320 [GRCh38]
Chr12:282465..3112486 [GRCh37]
Chr12:100682..2982747 [NCBI36]
Chr12:12p13.33		 pathogenic
GRCh38/hg38 12p13.33-13.32(chr12:121255-3968447)x1 copy number loss See cases [RCV000050637] Chr12:121255..3968447 [GRCh38]
Chr12:282465..4077613 [GRCh37]
Chr12:100682..3947874 [NCBI36]
Chr12:12p13.33-13.32		 pathogenic
GRCh38/hg38 12p13.33(chr12:80412-2850599)x1 copy number loss See cases [RCV000137693] Chr12:80412..2850599 [GRCh38]
Chr12:282465..2959765 [GRCh37]
Chr12:59839..2830026 [NCBI36]
Chr12:12p13.33		 pathogenic|uncertain significance
GRCh38/hg38 12p13.33-13.32(chr12:80412-4420585)x1 copy number loss See cases [RCV000138558] Chr12:80412..4420585 [GRCh38]
Chr12:282465..4529751 [GRCh37]
Chr12:59839..4400012 [NCBI36]
Chr12:12p13.33-13.32		 pathogenic
GRCh38/hg38 12p13.33-11.22(chr12:121055-28415184)x1 copy number loss See cases [RCV000052776] Chr12:121055..28415184 [GRCh38]
Chr12:282465..28568117 [GRCh37]
Chr12:100482..28459384 [NCBI36]
Chr12:12p13.33-11.22		 pathogenic
GRCh38/hg38 12p13.33(chr12:54452-2558097)x1 copy number loss See cases [RCV000136313] Chr12:54452..2558097 [GRCh38]
Chr12:282465..2667263 [GRCh37]
Chr12:33879..2537524 [NCBI36]
Chr12:12p13.33		 pathogenic
GRCh38/hg38 12p13.33-13.32(chr12:54427-3639603)x1 copy number loss See cases [RCV000141250] Chr12:54427..3639603 [GRCh38]
Chr12:282465..3748769 [GRCh37]
Chr12:33854..3619030 [NCBI36]
Chr12:12p13.33-13.32		 pathogenic
NC_000012.12:g.(1_3750000)_(5250000_9000000)del deletion Tumoral calcinosis, hyperphosphatemic, familial, 1 [RCV000758697] Chr12:3750000..5250000 [GRCh38]
Chr12:12p13.33-13.31		 pathogenic|not provided
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33		 pathogenic
GRCh38/hg38 12p13.33-13.32(chr12:54427-4004912)x1 copy number loss See cases [RCV000140991] Chr12:54427..4004912 [GRCh38]
Chr12:282465..4114078 [GRCh37]
Chr12:33854..3984339 [NCBI36]
Chr12:12p13.33-13.32		 pathogenic
GRCh38/hg38 12p13.33-13.31(chr12:45740-6945196)x3 copy number gain See cases [RCV000135350] Chr12:45740..6945196 [GRCh38]
Chr12:147099..7054359 [GRCh37]
Chr12:17360..6924620 [NCBI36]
Chr12:12p13.33-13.31		 pathogenic

Expression


Sequence


Reference Sequences
RefSeq Acc Id: NR_134624
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812585,698 - 586,486 (-)NCBI
T2T-CHM13v2.012581,683 - 582,472 (-)NCBI
Sequence:

Additional Information

Database Acc Id Source(s)
COSMIC LOC105369595 COSMIC
Ensembl Genes ENSG00000256020 ENTREZGENE
Ensembl Transcript ENST00000538943 ENTREZGENE
GTEx ENSG00000256020 GTEx
Human Proteome Map LOC105369595 Human Proteome Map
NCBI Gene LOC105369595 ENTREZGENE
RNAcentral URS0000A7698E RNACentral


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2022-06-07 LOC105369595  uncharacterized LOC105369595  AC006205.2  novel transcript  Data merged from RGD:16560945 737654 PROVISIONAL