Free for academic non-profit institutions. Other users need a Commercial license
LOC100289580 (Uncharacterized LOC100289580) is an RNA Gene, and is affiliated with the lncRNA class.
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, |
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 |
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 |
No disorders were found for LOC100289580 Gene.