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Aliases for LOC100289580 Gene
Data sources for LOC100289580 Gene:
Subcategory (RNA class) for LOC100289580 Gene
lncRNA
Aliases for LOC100289580 Gene
- Uncharacterized LOC100289580 (NCBI Entrez Gene)
- Novel Transcript, Antisense To FAM38A (Ensembl)
- NONHSAG020304.2 (NONCODE)
- HSALNG0113535 (LncBook)
- AC138028.2 (Ensembl)
External Ids for LOC100289580 Gene
- NCBI Entrez Gene: 100289580
- Ensembl: ENSG00000224888
Previous GeneCards Identifiers for LOC100289580 Gene
- GC00U928401
- GC16P088798
Summaries for LOC100289580 Gene
GeneCards Summary for LOC100289580 Gene
LOC100289580 (Uncharacterized LOC100289580) is an RNA Gene, and is affiliated with the lncRNA class.
Additional gene information for LOC100289580 Gene
No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for LOC100289580 Gene
Genomics for LOC100289580 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for LOC100289580 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around LOC100289580 on the GeneHancer Hub at the UCSC Golden Path
- Top Transcription factor binding sites by QIAGEN in the LOC100289580 gene promoter:
-
- Brachyury
- GR
- GR-alpha
- Olf-1
- POU2F1
- POU2F1a
- RP58
- SREBP-1a
- SREBP-1b
- SREBP-1c
Genomic Locations for LOC100289580 Gene
Latest Assembly
- chr16:88,728,232-88,741,425
- (GRCh38/hg38)
- Size:
- 13,194 bases
- Orientation:
- Plus strand
Previous Assembly
- chr16:88,797,588-88,807,833
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 10,246 bases
- Orientation:
- Plus strand
- chr16:88,797,588-88,807,826
- (GRCh37/hg19 by Ensembl)
- Size:
- 10,239 bases
- Orientation:
- Plus strand
Genomic View for LOC100289580 Gene
Genes around LOC100289580 on UCSC Golden Path with GeneCards custom track
LOC100289580 in the GeneCaRNA (GeneCards ncRNA compendium) hub on the UCSC Golden Path
- Cytogenetic band:
-
- 16q24.3 by Entrez Gene
- 16q24.3 by Ensembl
LOC100289580 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for LOC100289580 Gene
Proteins for LOC100289580 Gene
Post-translational modifications for LOC100289580 Gene
No Post-translational modifications
No data available for DME Specific Peptides for LOC100289580 Gene
Domains & Families for LOC100289580 Gene
No data available for Gene Families , Protein Domains , Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for LOC100289580 Gene
Function for LOC100289580 Gene
Phenotypes From GWAS Catalog for LOC100289580 Gene
Phenotypes for LOC100289580 Gene
- GenomeRNAi human phenotypes for LOC100289580:
CRISPR products for research
Inhibitory RNAs for research
Clone products for research
Cell Lines for research
No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for LOC100289580 Gene
Localization for LOC100289580 Gene
No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for LOC100289580 Gene
Transcripts for LOC100289580 Gene
Non-coding RNA (ncRNA) Transcripts from RNAcentral for LOC100289580 Gene
| RNAcentral Transcript ID | Subcategory | Length (nts) | # of Sources | Source Identifiers and Annotations |
|---|---|---|---|---|
| URS000075EEBC_9606 | lncRNA | 3776 | 2 |
RefSeq: NR_103774, NONCODE: NONHSAT144425.2, |
| URS00007720FD_9606 | lncRNA | 4528 | 1 |
Ensembl: ENST00000567968 (view in UCSC) , |
| URS00000DB7B5_9606 | lncRNA | 1539 | 1 |
Ensembl: ENST00000440406 (view in UCSC) , |
| URS0000606694_9606 | lncRNA | 4521 | 1 |
NONCODE: NONHSAT144427.2, |
| URS0001BCDF80_9606 | lncRNA | 3222 | 1 |
LncBook: HSALNT0235346, |
LOC100289580 in the GeneCaRNA (GeneCards ncRNA compendium) hub on the UCSC Golden Path
Additional transcripts not in RNAcentral for LOC100289580 Gene
- 1 REFSEQ mRNAs :
- 2 NCBI additional mRNA sequence :
CRISPR products for research
Inhibitory RNAs for research
Clone products for research
Relevant External Links for LOC100289580 Gene
- GeneLoc Exon Structure for
- LOC100289580
Expression for LOC100289580 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for LOC100289580
SOURCE GeneReport for Unigene cluster for LOC100289580 Gene:
Hs.437712Gene Expression Assays for research
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for LOC100289580 Gene
Orthologs for LOC100289580 Gene
No data available for Orthologs for LOC100289580 Gene
Paralogs for LOC100289580 Gene
No data available for Paralogs for LOC100289580 Gene
Variants for LOC100289580 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for LOC100289580 Gene
| SNP ID | Clinical significance and condition | Chr 16 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 959722 | Pathogenic: not provided | 88,738,289(+) |
G/T NM_001142864.4(PIEZO1):c.786C>A (p.Cys262Ter) |
NONSENSE,NON_CODING_TRANSCRIPT | |
| 962684 | Uncertain Significance: not provided | 88,733,388(+) |
G/C NM_001142864.4(PIEZO1):c.2554C>G (p.Pro852Ala) |
MISSENSE | |
| 965053 | Uncertain Significance: not provided | 88,736,399(+) |
T/A NM_001142864.4(PIEZO1):c.1306A>T (p.Ile436Phe) |
MISSENSE | |
| 978651 | Likely Pathogenic: Thickened nuchal skin fold; Hydrops fetalis | 88,736,167(+) |
CAG/C NM_001142864.4(PIEZO1):c.1536_1537del (p.Cys513fs) |
FRAMESHIFT | |
| 978720 | Likely Pathogenic: Lymphedema, hereditary, III; Xerocytosis | 88,731,711(+) |
C/A NM_001142864.4(PIEZO1):c.3191G>T (p.Cys1064Phe) |
MISSENSE |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv3064n100 | CNV | gain | 25217958 |
| dgv3065n100 | CNV | gain | 25217958 |
| esv2715032 | CNV | deletion | 23290073 |
| esv2715033 | CNV | deletion | 23290073 |
| esv2715034 | CNV | deletion | 23290073 |
| esv29457 | CNV | gain | 19812545 |
| esv998799 | CNV | insertion | 20482838 |
| nsv1061256 | CNV | gain | 25217958 |
| nsv1063024 | CNV | gain | 25217958 |
| nsv1065973 | CNV | loss | 25217958 |
| nsv1160442 | CNV | deletion | 26073780 |
| nsv1927 | CNV | insertion | 18451855 |
| nsv471113 | CNV | loss | 18288195 |
| nsv471114 | CNV | gain | 18288195 |
| nsv482951 | CNV | loss | 15286789 |
| nsv517643 | CNV | loss | 19592680 |
| nsv573673 | CNV | loss | 21841781 |
| nsv573674 | CNV | gain | 21841781 |
| nsv573675 | CNV | loss | 21841781 |
| nsv833327 | CNV | loss | 17160897 |
| nsv952070 | CNV | deletion | 24416366 |
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Variation tolerance and Additional Variant Information for LOC100289580 Gene
Disorders for LOC100289580 Gene
No disorders were found for LOC100289580 Gene.
No data available for MalaCards , UniProtKB/Swiss-Prot , Genatlas and External Links for LOC100289580 Gene
Publications for LOC100289580 Gene
- The sequence of the human genome. (PMID: 11181995) Venter JC … Zhu X (Science (New York, N.Y.) 2001) 3
No data available for Mastermind for LOC100289580 Gene
Products for LOC100289580 Gene
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Sources for LOC100289580 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Mar-2021)
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) MedlinePlus Genetics
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNAcentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Open Targets Platform
- (175) 5SRRNADB
- (176) snoDB
- (177) MirGeneDB