LOC100128288 (uncharacterized LOC100128288) - Rat Genome Database

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Gene: LOC100128288 (uncharacterized LOC100128288) Homo sapiens
Analyze
Symbol: LOC100128288
Name: uncharacterized LOC100128288
RGD ID: 38628521
Description: ASSOCIATED WITH Congenital hypoplastic anemia; Diamond-Blackfan anemia; dyskeratosis congenita
Type: ncrna
RefSeq Status: VALIDATED
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38178,358,413 - 8,360,541 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37178,261,731 - 8,263,859 (-)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map17p13.1NCBI
HuRef178,156,850 - 8,158,980 (-)NCBIHuRef
CHM1_1178,270,636 - 8,272,764 (-)NCBICHM1_1
T2T-CHM13v2.0178,264,650 - 8,266,778 (-)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
References
Additional References at PubMed
PMID:14702039  


Genomics


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 17p13.2-12(chr17:5732953-12095349)x3 copy number gain See cases [RCV000134851] Chr17:5732953..12095349 [GRCh38]
Chr17:5636273..11998666 [GRCh37]
Chr17:5576997..11939391 [NCBI36]
Chr17:17p13.2-12		 pathogenic
GRCh38/hg38 17p13.1(chr17:7478195-8435524)x1 copy number loss See cases [RCV000053426] Chr17:7478195..8435524 [GRCh38]
Chr17:7381514..8338842 [GRCh37]
Chr17:7322238..8279567 [NCBI36]
Chr17:17p13.1		 pathogenic
GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3 copy number gain See cases [RCV000138531] Chr17:162016..12343901 [GRCh38]
Chr17:45835..12247218 [GRCh37]
Chr17:11807..12187943 [NCBI36]
Chr17:17p13.3-12		 pathogenic
GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3 copy number gain See cases [RCV000142236] Chr17:150732..14764202 [GRCh38]
Chr17:525..14667519 [GRCh37]
Chr17:525..14608244 [NCBI36]
Chr17:17p13.3-12		 pathogenic
NC_000017.11:g.(?_7669603)_(8382316_?)del deletion Diamond-Blackfan anemia [RCV000538057]|Dyskeratosis congenita [RCV001382188]|Li-Fraumeni syndrome [RCV003105948] Chr17:7669603..8382316 [GRCh38]
Chr17:7572921..8285634 [GRCh37]
Chr17:17p13.1		 pathogenic
GRCh38/hg38 17p13.1(chr17:7967712-8490279)x3 copy number gain See cases [RCV000141063] Chr17:7967712..8490279 [GRCh38]
Chr17:7871030..8393597 [GRCh37]
Chr17:7811755..8334322 [NCBI36]
Chr17:17p13.1		 uncertain significance
NC_000017.11:g.(?_7669599)_(8382320_?)del deletion Li-Fraumeni syndrome [RCV000803922] Chr17:7669599..8382320 [GRCh38]
Chr17:7572917..8285638 [GRCh37]
Chr17:17p13.1		 pathogenic
GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3 copy number gain Chromosome 17p13.3 duplication syndrome [RCV003327726] Chr17:165730..11404096 [GRCh38]
Chr17:17p13.3-12		 pathogenic

QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597251445GWAS1347519_Hbacillus phage virus seropositivity QTL GWAS1347519 (human)6e-09bacillus phage virus seropositivity1783600168360017Human


Expression

RNA-SEQ Expression


Sequence


RefSeq Acc Id: NR_024447
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38178,358,413 - 8,360,541 (-)NCBI
T2T-CHM13v2.0178,264,650 - 8,266,778 (-)NCBI
Sequence:
Protein Sequences
GenBank Protein BAC04438 (Get FASTA)   NCBI Sequence Viewer  
  EAW90058 (Get FASTA)   NCBI Sequence Viewer  


Additional Information

Database Acc Id Source(s)
COSMIC LOC100128288 COSMIC
GTEx LOC100128288 GTEx
Human Proteome Map LOC100128288 Human Proteome Map
NCBI Gene LOC100128288 ENTREZGENE
RNAcentral URS000075E5FF RNACentral