LOC100128253 (uncharacterized LOC100128253) - Rat Genome Database

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Gene: LOC100128253 (uncharacterized LOC100128253) Homo sapiens
Analyze
Symbol: LOC100128253
Name: uncharacterized LOC100128253
RGD ID: 38665395
Description: ASSOCIATED WITH Hyperphosphatemic Familial Tumoral Calcinosis 1
Type: ncrna
RefSeq Status: VALIDATED
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38123,298,514 - 3,366,122 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37123,407,680 - 3,475,288 (-)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map12p13.32NCBI
CHM1_1123,408,661 - 3,474,360 (-)NCBICHM1_1
T2T-CHM13v2.0123,304,988 - 3,372,638 (-)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:14702039  


Genomics

Variants

.
Variants in LOC100128253
3 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 12p13.33-13.32(chr12:2492728-4829842)x1 copy number loss See cases [RCV000052777] Chr12:2492728..4829842 [GRCh38]
Chr12:2601894..4939008 [GRCh37]
Chr12:2472155..4809269 [NCBI36]
Chr12:12p13.33-13.32		 pathogenic
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(chr12:121271-34603261)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 12p13.33-11.1(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(chr12:64620-34682902)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 12p13.33-11.1(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 12p13.33-12.3(chr12:2871741-14987348)x3 copy number gain See cases [RCV000137694] Chr12:2871741..14987348 [GRCh38]
Chr12:2980907..15140282 [GRCh37]
Chr12:2851168..15031549 [NCBI36]
Chr12:12p13.33-12.3		 pathogenic
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 12p13.33-13.31(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 12p13.33-11.1(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 12p13.33-13.32(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 12p13.33-13.31(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 12p13.33-12.2(chr12:1258274-20657577)x3 copy number gain See cases [RCV000141905] Chr12:1258274..20657577 [GRCh38]
Chr12:1367440..20810511 [GRCh37]
Chr12:1237701..20701778 [NCBI36]
Chr12:12p13.33-12.2		 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
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 12p13.33-13.31(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 12p13.33-12.1(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 12p13.33-13.32(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 12p13.33-13.32(chr12:2619985-3489688)x3 copy number gain See cases [RCV000141599] Chr12:2619985..3489688 [GRCh38]
Chr12:2729151..3598854 [GRCh37]
Chr12:2599412..3469115 [NCBI36]
Chr12:12p13.33-13.32		 uncertain significance
GRCh38/hg38 12p13.33-13.32(chr12:2188620-3361190)x3 copy number gain See cases [RCV000141614] Chr12:2188620..3361190 [GRCh38]
Chr12:2297786..3470356 [GRCh37]
Chr12:2168047..3340617 [NCBI36]
Chr12:12p13.33-13.32		 uncertain significance

Expression


Sequence


Reference Sequences
RefSeq Acc Id: NR_148995
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38123,298,514 - 3,366,122 (-)NCBI
T2T-CHM13v2.0123,304,988 - 3,372,638 (-)NCBI
Sequence:

Additional Information

Database Acc Id Source(s)
COSMIC LOC100128253 COSMIC
GTEx LOC100128253 GTEx
Human Proteome Map LOC100128253 Human Proteome Map
NCBI Gene LOC100128253 ENTREZGENE
RNAcentral URS0000BC43EA RNACentral