TGFB2-OT1 (TGFB2 overlapping transcript 1) - Rat Genome Database

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Gene: TGFB2-OT1 (TGFB2 overlapping transcript 1) Homo sapiens
Analyze
Symbol: TGFB2-OT1
Name: TGFB2 overlapping transcript 1
RGD ID: 8695002
HGNC Page HGNC:50629
Description: ASSOCIATED WITH Loeys-Dietz syndrome; Loeys-Dietz syndrome 4; Usher syndrome
Type: ncrna (Ensembl: lncRNA)
RefSeq Status: VALIDATED
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381218,442,626 - 218,443,995 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1218,442,626 - 218,443,996 (+)EnsemblGRCh38hg38GRCh38
GRCh371218,615,968 - 218,617,337 (+)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map1q41NCBI
CHM1_11219,888,491 - 219,889,860 (+)NCBICHM1_1
T2T-CHM13v2.01217,677,400 - 217,678,768 (+)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   PMID:24879147   PMID:25437332   PMID:26565952  


Genomics

Variants

.
Variants in TGFB2-OT1
29 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3 copy number gain See cases [RCV000143727] Chr1:207346642..248930485 [GRCh38]
Chr1:207519987..249224684 [GRCh37]
Chr1:205586610..247191307 [NCBI36]
Chr1:1q32.2-44
pathogenic
GRCh38/hg38 1q41(chr1:215206760-222004068)x1 copy number loss See cases [RCV000148255] Chr1:215206760..222004068 [GRCh38]
Chr1:215380103..222177410 [GRCh37]
Chr1:213446726..220244033 [NCBI36]
Chr1:1q41
pathogenic
GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3 copy number gain See cases [RCV000142054] Chr1:204764914..225408698 [GRCh38]
Chr1:204734042..225596400 [GRCh37]
Chr1:203000665..223663023 [NCBI36]
Chr1:1q32.1-42.12
pathogenic
GRCh38/hg38 1q41(chr1:217558925-218732002)x3 copy number gain See cases [RCV000142313] Chr1:217558925..218732002 [GRCh38]
Chr1:217732267..218905344 [GRCh37]
Chr1:215798890..216971967 [NCBI36]
Chr1:1q41
uncertain significance
GRCh38/hg38 1q41(chr1:217452423-218818361)x1 copy number loss See cases [RCV000053954] Chr1:217452423..218818361 [GRCh38]
Chr1:217625765..218991703 [GRCh37]
Chr1:215692388..217058326 [NCBI36]
Chr1:1q41
pathogenic
GRCh38/hg38 1q41(chr1:216518607-219827290)x1 copy number loss See cases [RCV000053953] Chr1:216518607..219827290 [GRCh38]
Chr1:216691949..220000632 [GRCh37]
Chr1:214758572..218067255 [NCBI36]
Chr1:1q41
pathogenic
GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3 copy number gain See cases [RCV000134979] Chr1:209963625..248918469 [GRCh38]
Chr1:210136970..249212668 [GRCh37]
Chr1:208203593..247179291 [NCBI36]
Chr1:1q32.2-44
pathogenic
GRCh38/hg38 1q41(chr1:215206760-222004068)x1 copy number loss See cases [RCV000050298] Chr1:215206760..222004068 [GRCh38]
Chr1:215380103..222177410 [GRCh37]
Chr1:213446726..220244033 [NCBI36]
Chr1:1q41
pathogenic
GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3 copy number gain See cases [RCV000051857] Chr1:187143981..224299417 [GRCh38]
Chr1:187113113..224487119 [GRCh37]
Chr1:185379736..222553742 [NCBI36]
Chr1:1q31.1-42.11
pathogenic
GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3 copy number gain See cases [RCV000051861] Chr1:209646207..248931113 [GRCh38]
Chr1:209819552..249225312 [GRCh37]
Chr1:207886175..247191935 [NCBI36]
Chr1:1q32.2-44
pathogenic
GRCh38/hg38 1q41(chr1:215447347-221971832)x3 copy number gain See cases [RCV000051874] Chr1:215447347..221971832 [GRCh38]
Chr1:215620690..222145174 [GRCh37]
Chr1:213687313..220211797 [NCBI36]
Chr1:1q41
pathogenic
GRCh38/hg38 1q41(chr1:218321722-218961624)x1 copy number loss See cases [RCV000050854] Chr1:218321722..218961624 [GRCh38]
Chr1:218495064..219134966 [GRCh37]
Chr1:216561687..217201589 [NCBI36]
Chr1:1q41
uncertain significance
GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3 copy number gain See cases [RCV000050981] Chr1:214023812..248918469 [GRCh38]
Chr1:214197155..249212668 [GRCh37]
Chr1:212263778..247179291 [NCBI36]
Chr1:1q32.3-44
pathogenic
NM_003238.6(TGFB2):c.*1315T>G single nucleotide variant Loeys-Dietz syndrome 4 [RCV000286146] Chr1:218442677 [GRCh38]
Chr1:218616019 [GRCh37]
Chr1:1q41
benign|likely benign
NM_003238.6(TGFB2):c.*2431C>G single nucleotide variant Loeys-Dietz syndrome 4 [RCV000279927] Chr1:218443793 [GRCh38]
Chr1:218617135 [GRCh37]
Chr1:1q41
benign
NM_003238.6(TGFB2):c.*1502T>C single nucleotide variant Loeys-Dietz syndrome 4 [RCV000281573] Chr1:218442864 [GRCh38]
Chr1:218616206 [GRCh37]
Chr1:1q41
likely benign
NM_003238.6(TGFB2):c.*2108G>A single nucleotide variant Loeys-Dietz syndrome 4 [RCV000273050] Chr1:218443470 [GRCh38]
Chr1:218616812 [GRCh37]
Chr1:1q41
benign|likely benign
NM_003238.6(TGFB2):c.*2008G>A single nucleotide variant Loeys-Dietz syndrome 4 [RCV000397604] Chr1:218443370 [GRCh38]
Chr1:218616712 [GRCh37]
Chr1:1q41
benign
NM_003238.6(TGFB2):c.*1585C>G single nucleotide variant Loeys-Dietz syndrome 4 [RCV000336719] Chr1:218442947 [GRCh38]
Chr1:218616289 [GRCh37]
Chr1:1q41
benign
NM_003238.6(TGFB2):c.*1338T>A single nucleotide variant Loeys-Dietz syndrome 4 [RCV000336507] Chr1:218442700 [GRCh38]
Chr1:218616042 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_003238.6(TGFB2):c.*1310C>T single nucleotide variant Loeys-Dietz syndrome 4 [RCV000380602] Chr1:218442672 [GRCh38]
Chr1:218616014 [GRCh37]
Chr1:1q41
benign
NM_003238.6(TGFB2):c.*2564A>G single nucleotide variant Loeys-Dietz syndrome 4 [RCV000319516] Chr1:218443926 [GRCh38]
Chr1:218617268 [GRCh37]
Chr1:1q41
likely benign
NM_003238.6(TGFB2):c.*2269T>C single nucleotide variant Loeys-Dietz syndrome 4 [RCV000359432] Chr1:218443631 [GRCh38]
Chr1:218616973 [GRCh37]
Chr1:1q41
benign|likely benign
NM_003238.6(TGFB2):c.*1443T>A single nucleotide variant Loeys-Dietz syndrome 4 [RCV000404929] Chr1:218442805 [GRCh38]
Chr1:218616147 [GRCh37]
Chr1:1q41
benign
NM_003238.6(TGFB2):c.*1273T>C single nucleotide variant Loeys-Dietz syndrome 4 [RCV000321391] Chr1:218442635 [GRCh38]
Chr1:218615977 [GRCh37]
Chr1:1q41
likely benign
NM_003238.6(TGFB2):c.*2053G>A single nucleotide variant Loeys-Dietz syndrome 4 [RCV000308316] Chr1:218443415 [GRCh38]
Chr1:218616757 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_003238.6(TGFB2):c.*2188T>C single nucleotide variant Loeys-Dietz syndrome 4 [RCV000328024] Chr1:218443550 [GRCh38]
Chr1:218616892 [GRCh37]
Chr1:1q41
likely benign
NM_003238.6(TGFB2):c.*1624T>A single nucleotide variant Loeys-Dietz syndrome 4 [RCV000311052] Chr1:218442986 [GRCh38]
Chr1:218616328 [GRCh37]
Chr1:1q41
benign
NM_003238.6(TGFB2):c.*1684G>C single nucleotide variant Loeys-Dietz syndrome 4 [RCV000370437] Chr1:218443046 [GRCh38]
Chr1:218616388 [GRCh37]
Chr1:1q41
benign|likely benign
NM_003238.6(TGFB2):c.*2361del deletion Loeys-Dietz syndrome [RCV000264583] Chr1:218443710 [GRCh38]
Chr1:218617052 [GRCh37]
Chr1:1q41
uncertain significance
NM_003238.6(TGFB2):c.*2089A>C single nucleotide variant Loeys-Dietz syndrome 4 [RCV000362957] Chr1:218443451 [GRCh38]
Chr1:218616793 [GRCh37]
Chr1:1q41
uncertain significance
NM_003238.6(TGFB2):c.*1615T>C single nucleotide variant Loeys-Dietz syndrome 4 [RCV000402529] Chr1:218442977 [GRCh38]
Chr1:218616319 [GRCh37]
Chr1:1q41
uncertain significance
NM_003238.6(TGFB2):c.*2360_*2361del deletion Loeys-Dietz syndrome [RCV000324333] Chr1:218443710..218443711 [GRCh38]
Chr1:218617052..218617053 [GRCh37]
Chr1:1q41
benign
NM_003238.6(TGFB2):c.*2617T>C single nucleotide variant Loeys-Dietz syndrome 4 [RCV000374197] Chr1:218443979 [GRCh38]
Chr1:218617321 [GRCh37]
Chr1:1q41
uncertain significance
NM_003238.6(TGFB2):c.*2359_*2361del deletion Loeys-Dietz syndrome [RCV000379047] Chr1:218443710..218443712 [GRCh38]
Chr1:218617052..218617054 [GRCh37]
Chr1:1q41
uncertain significance
Single allele deletion Usher syndrome [RCV000505151] Chr1:216066818..222607612 [GRCh38]
Chr1:216240159..222780953 [GRCh37]
Chr1:1q41
likely pathogenic
NM_003238.6(TGFB2):c.*2007C>T single nucleotide variant Loeys-Dietz syndrome 4 [RCV001096195] Chr1:218443369 [GRCh38]
Chr1:218616711 [GRCh37]
Chr1:1q41
uncertain significance
NM_003238.6(TGFB2):c.*2421G>T single nucleotide variant Loeys-Dietz syndrome 4 [RCV001097938] Chr1:218443783 [GRCh38]
Chr1:218617125 [GRCh37]
Chr1:1q41
uncertain significance
NC_000001.11:g.(?_218405159)_(219273649_?)del deletion Loeys-Dietz syndrome 4 [RCV001824378] Chr1:218405159..219273649 [GRCh38]
Chr1:218578501..219446991 [GRCh37]
Chr1:1q41
likely pathogenic
NM_003238.6(TGFB2):c.*1871C>T single nucleotide variant Loeys-Dietz syndrome 4 [RCV001096194] Chr1:218443233 [GRCh38]
Chr1:218616575 [GRCh37]
Chr1:1q41
uncertain significance
NM_003238.6(TGFB2):c.*1271A>G single nucleotide variant Loeys-Dietz syndrome 4 [RCV001099640] Chr1:218442633 [GRCh38]
Chr1:218615975 [GRCh37]
Chr1:1q41
uncertain significance
NM_003238.6(TGFB2):c.*1389C>T single nucleotide variant Loeys-Dietz syndrome 4 [RCV001101622] Chr1:218442751 [GRCh38]
Chr1:218616093 [GRCh37]
Chr1:1q41
benign
NM_003238.6(TGFB2):c.*1431A>C single nucleotide variant Loeys-Dietz syndrome 4 [RCV001101624] Chr1:218442793 [GRCh38]
Chr1:218616135 [GRCh37]
Chr1:1q41
uncertain significance
NM_003238.6(TGFB2):c.*2496A>G single nucleotide variant Loeys-Dietz syndrome 4 [RCV001097939] Chr1:218443858 [GRCh38]
Chr1:218617200 [GRCh37]
Chr1:1q41
uncertain significance
NM_003238.6(TGFB2):c.*1428T>C single nucleotide variant Loeys-Dietz syndrome 4 [RCV001101623] Chr1:218442790 [GRCh38]
Chr1:218616132 [GRCh37]
Chr1:1q41
uncertain significance
NM_003238.6(TGFB2):c.*2509G>T single nucleotide variant Loeys-Dietz syndrome 4 [RCV001099728] Chr1:218443871 [GRCh38]
Chr1:218617213 [GRCh37]
Chr1:1q41
uncertain significance
NM_003238.6(TGFB2):c.*2352T>G single nucleotide variant Loeys-Dietz syndrome 4 [RCV001097937] Chr1:218443714 [GRCh38]
Chr1:218617056 [GRCh37]
Chr1:1q41
uncertain significance
GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2 copy number loss Orofacial cleft 2 [RCV002481175] Chr1:228006998..228061271 [GRCh38]
Chr1:1q32.2-42.13
association

Expression


Sequence


RefSeq Acc Id: ENST00000625474
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1218,442,626 - 218,443,996 (+)Ensembl
RefSeq Acc Id: NR_125715
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381218,442,626 - 218,443,995 (+)NCBI
CHM1_11219,888,491 - 219,889,860 (+)NCBI
T2T-CHM13v2.01217,677,400 - 217,678,768 (+)NCBI
Sequence:

Additional Information

Database Acc Id Source(s)
COSMIC TGFB2-OT1 COSMIC
Ensembl Genes ENSG00000281453 Ensembl, ENTREZGENE
Ensembl Transcript ENST00000625474 ENTREZGENE
GTEx ENSG00000281453 GTEx
HGNC ID HGNC:50629 ENTREZGENE
Human Proteome Map TGFB2-OT1 Human Proteome Map
NCBI Gene TGFB2-OT1 ENTREZGENE
RNAcentral URS00007E4360 RNACentral