TMEM139-AS1 (TMEM139 antisense RNA 1) - Rat Genome Database

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Gene: TMEM139-AS1 (TMEM139 antisense RNA 1) Homo sapiens
Analyze
Symbol: TMEM139-AS1
Name: TMEM139 antisense RNA 1
RGD ID: 25330290
HGNC Page HGNC:40988
Description: ASSOCIATED WITH genetic disease
Type: ncrna (Ensembl: lncRNA)
RefSeq Status: VALIDATED
Previously known as: AC073342.1
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh387143,255,299 - 143,286,334 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl7143,255,264 - 143,287,997 (-)EnsemblGRCh38hg38GRCh38
GRCh377142,952,392 - 142,983,427 (-)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map7q34NCBI
CHM1_17142,889,258 - 142,920,314 (-)NCBICHM1_1
T2T-CHM13v2.07144,610,720 - 144,641,742 (-)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:16344560  


Genomics

Variants

.
Variants in TMEM139-AS1
19 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 7q34-36.3(chr7:141960861-159335866)x1 copy number loss See cases [RCV000137256] Chr7:141960861..159335866 [GRCh38]
Chr7:142528609..159128556 [GRCh37]
Chr7:141307130..158821317 [NCBI36]
Chr7:7q34-36.3		 pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3 copy number gain See cases [RCV000143754] Chr7:131171478..159327017 [GRCh38]
Chr7:130856237..159119707 [GRCh37]
Chr7:130506777..158812468 [NCBI36]
Chr7:7q32.3-36.3		 pathogenic
GRCh38/hg38 7q34-35(chr7:142578948-144254897)x1 copy number loss See cases [RCV000050639] Chr7:142578948..144254897 [GRCh38]
Chr7:142528609..143951990 [GRCh37]
Chr7:141967554..143582923 [NCBI36]
Chr7:7q34-35		 pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7q34-36.3(chr7:142358524-159282531)x1 copy number loss See cases [RCV000054177] Chr7:142358524..159282531 [GRCh38]
Chr7:142528609..159075220 [GRCh37]
Chr7:141726947..158767981 [NCBI36]
Chr7:7q34-36.3		 pathogenic
GRCh38/hg38 7q34-35(chr7:140061285-144622893)x3 copy number gain See cases [RCV000143724] Chr7:140061285..144622893 [GRCh38]
Chr7:139761085..144319986 [GRCh37]
Chr7:139407554..143950919 [NCBI36]
Chr7:7q34-35		 uncertain significance
NM_015917.3(GSTK1):c.349G>C (p.Ala117Pro) single nucleotide variant Inborn genetic diseases [RCV003244388] Chr7:143265057 [GRCh38]
Chr7:142962150 [GRCh37]
Chr7:7q34		 uncertain significance
NM_001282876.2(TMEM139):c.98C>T (p.Thr33Met) single nucleotide variant Inborn genetic diseases [RCV003239810] Chr7:143286055 [GRCh38]
Chr7:142983148 [GRCh37]
Chr7:7q34		 uncertain significance
GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3 copy number gain Neurodevelopmental disorder [RCV003327610] Chr7:138620939..159233475 [GRCh38]
Chr7:7q34-36.3		 likely pathogenic
NM_015917.3(GSTK1):c.664G>A (p.Val222Met) single nucleotide variant Inborn genetic diseases [RCV003277563] Chr7:143268820 [GRCh38]
Chr7:142965913 [GRCh37]
Chr7:7q34		 uncertain significance
GRCh38/hg38 7q34-36.3(chr7:140754198-159307523)x1 copy number loss See cases [RCV000054176] Chr7:140754198..159307523 [GRCh38]
Chr7:140453998..159100212 [GRCh37]
Chr7:140100467..158792973 [NCBI36]
Chr7:7q34-36.3		 pathogenic
NM_015917.3(GSTK1):c.382A>G (p.Arg128Gly) single nucleotide variant not provided [RCV000880202] Chr7:143265090 [GRCh38]
Chr7:142962183 [GRCh37]
Chr7:7q34		 likely benign
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3 copy number gain See cases [RCV000139654] Chr7:132444095..159335866 [GRCh38]
Chr7:132128854..159128556 [GRCh37]
Chr7:131779394..158821317 [NCBI36]
Chr7:7q32.3-36.3		 pathogenic
GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3 copy number gain See cases [RCV000141413] Chr7:115459015..159325817 [GRCh38]
Chr7:115099069..159118507 [GRCh37]
Chr7:114886305..158811268 [NCBI36]
Chr7:7q31.2-36.3		 pathogenic
GRCh38/hg38 7q33-36.3(chr7:136309982-159307523)x3 copy number gain See cases [RCV000053576] Chr7:136309982..159307523 [GRCh38]
Chr7:135994730..159100212 [GRCh37]
Chr7:135645270..158792973 [NCBI36]
Chr7:7q33-36.3		 pathogenic
NM_015917.3(GSTK1):c.558C>T (p.Thr186=) single nucleotide variant not provided [RCV000900560] Chr7:143268111 [GRCh38]
Chr7:142965204 [GRCh37]
Chr7:7q34		 benign
NM_015917.3(GSTK1):c.632-4C>G single nucleotide variant not provided [RCV000956540] Chr7:143268784 [GRCh38]
Chr7:142965877 [GRCh37]
Chr7:7q34		 benign
GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3 copy number gain See cases [RCV000136717] Chr7:97419852..158923762 [GRCh38]
Chr7:97049164..158716453 [GRCh37]
Chr7:96887100..158409214 [NCBI36]
Chr7:7q21.3-36.3		 pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3 copy number gain See cases [RCV000143707] Chr7:132438072..159327017 [GRCh38]
Chr7:132122831..159119707 [GRCh37]
Chr7:131773371..158812468 [NCBI36]
Chr7:7q32.3-36.3		 pathogenic
GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3 copy number gain See cases [RCV000138847] Chr7:121863759..159335865 [GRCh38]
Chr7:121503813..159128555 [GRCh37]
Chr7:121291049..158821316 [NCBI36]
Chr7:7q31.32-36.3		 pathogenic
GRCh38/hg38 7q34-35(chr7:141126407-145652221)x3 copy number gain See cases [RCV000133645] Chr7:141126407..145652221 [GRCh38]
Chr7:140826207..145349314 [GRCh37]
Chr7:140472676..144980247 [NCBI36]
Chr7:7q34-35		 pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3 copy number gain See cases [RCV000051101] Chr7:132850196..159325876 [GRCh38]
Chr7:132534956..159118566 [GRCh37]
Chr7:132185496..158811327 [NCBI36]
Chr7:7q32.3-36.3		 pathogenic
GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3 copy number gain See cases [RCV000050876] Chr7:129310166..159282390 [GRCh38]
Chr7:128950007..159075079 [GRCh37]
Chr7:128737243..158767840 [NCBI36]
Chr7:7q32.1-36.3		 pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3 copy number gain See cases [RCV000142802] Chr7:131228764..159335866 [GRCh38]
Chr7:130913523..159128556 [GRCh37]
Chr7:130564063..158821317 [NCBI36]
Chr7:7q32.3-36.3		 pathogenic
GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1 copy number loss See cases [RCV000138120] Chr7:134666829..158591882 [GRCh38]
Chr7:134351581..158384574 [GRCh37]
Chr7:134002121..158077335 [NCBI36]
Chr7:7q33-36.3		 pathogenic
GRCh38/hg38 7q33-35(chr7:135414108-144140219)x1 copy number loss See cases [RCV000054173] Chr7:135414108..144140219 [GRCh38]
Chr7:135098857..143837312 [GRCh37]
Chr7:134749397..143468245 [NCBI36]
Chr7:7q33-35		 pathogenic
GRCh38/hg38 7q33-36.2(chr7:137751200-154815582)x3 copy number gain See cases [RCV000136592] Chr7:137751200..154815582 [GRCh38]
Chr7:137435946..154607292 [GRCh37]
Chr7:137086486..154238225 [NCBI36]
Chr7:7q33-36.2		 pathogenic
GRCh38/hg38 7q33-36.1(chr7:135017687-148807400)x1 copy number loss See cases [RCV000138903] Chr7:135017687..148807400 [GRCh38]
Chr7:134702438..148504492 [GRCh37]
Chr7:134352978..148135425 [NCBI36]
Chr7:7q33-36.1		 pathogenic
NM_015917.3(GSTK1):c.60G>T (p.Trp20Cys) single nucleotide variant Inborn genetic diseases [RCV002683642] Chr7:143263573 [GRCh38]
Chr7:142960666 [GRCh37]
Chr7:7q34		 uncertain significance
NM_001282876.2(TMEM139):c.38C>T (p.Pro13Leu) single nucleotide variant Inborn genetic diseases [RCV002906235] Chr7:143285995 [GRCh38]
Chr7:142983088 [GRCh37]
Chr7:7q34		 uncertain significance
NM_001282876.2(TMEM139):c.223C>G (p.Pro75Ala) single nucleotide variant Inborn genetic diseases [RCV002888719] Chr7:143286180 [GRCh38]
Chr7:142983273 [GRCh37]
Chr7:7q34		 uncertain significance
NM_015917.3(GSTK1):c.20C>T (p.Thr7Ile) single nucleotide variant Inborn genetic diseases [RCV002887200] Chr7:143263533 [GRCh38]
Chr7:142960626 [GRCh37]
Chr7:7q34		 uncertain significance
NM_015917.3(GSTK1):c.181C>T (p.Arg61Cys) single nucleotide variant Inborn genetic diseases [RCV002713797] Chr7:143264574 [GRCh38]
Chr7:142961667 [GRCh37]
Chr7:7q34		 uncertain significance
NM_015917.3(GSTK1):c.291G>T (p.Leu97Phe) single nucleotide variant Inborn genetic diseases [RCV002987898] Chr7:143264999 [GRCh38]
Chr7:142962092 [GRCh37]
Chr7:7q34		 uncertain significance
NM_015917.3(GSTK1):c.385-36C>G single nucleotide variant Inborn genetic diseases [RCV003215897] Chr7:143265225 [GRCh38]
Chr7:142962318 [GRCh37]
Chr7:7q34		 uncertain significance
NM_015917.3(GSTK1):c.17G>C (p.Arg6Pro) single nucleotide variant Inborn genetic diseases [RCV003210290] Chr7:143263530 [GRCh38]
Chr7:142960623 [GRCh37]
Chr7:7q34		 uncertain significance
NM_001282876.2(TMEM139):c.194C>G (p.Ser65Cys) single nucleotide variant Inborn genetic diseases [RCV003214632] Chr7:143286151 [GRCh38]
Chr7:142983244 [GRCh37]
Chr7:7q34		 uncertain significance
GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3 copy number gain Neurodevelopmental disorder [RCV003327609] Chr7:137463392..159345973 [GRCh38]
Chr7:7q33-36.3		 pathogenic
NM_001282876.2(TMEM139):c.183G>C (p.Trp61Cys) single nucleotide variant Inborn genetic diseases [RCV003378545] Chr7:143286140 [GRCh38]
Chr7:142983233 [GRCh37]
Chr7:7q34		 likely benign
NM_001282876.2(TMEM139):c.245G>A (p.Arg82Gln) single nucleotide variant not provided [RCV003434207] Chr7:143286202 [GRCh38]
Chr7:142983295 [GRCh37]
Chr7:7q34		 likely benign
NM_015917.3(GSTK1):c.193T>C (p.Tyr65His) single nucleotide variant Inborn genetic diseases [RCV003345402] Chr7:143264586 [GRCh38]
Chr7:142961679 [GRCh37]
Chr7:7q34		 uncertain significance

Expression


Sequence


Reference Sequences
RefSeq Acc Id: ENST00000427392
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7143,255,264 - 143,286,663 (-)Ensembl
RefSeq Acc Id: ENST00000446192
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7143,262,404 - 143,287,997 (-)Ensembl
RefSeq Acc Id: NR_133932
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387143,255,299 - 143,286,334 (-)NCBI
T2T-CHM13v2.07144,610,720 - 144,641,742 (-)NCBI
Sequence:

Additional Information

Database Acc Id Source(s)
COSMIC TMEM139-AS1 COSMIC
Ensembl Genes ENSG00000231840 Ensembl
GTEx ENSG00000231840 GTEx
HGNC ID HGNC:40988 ENTREZGENE
Human Proteome Map TMEM139-AS1 Human Proteome Map
NCBI Gene TMEM139-AS1 ENTREZGENE
RNAcentral URS0000A772E8 RNACentral


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2022-05-17 TMEM139-AS1  TMEM139 antisense RNA 1  AC073342.1  novel transcript  Data merged from RGD:16555148 737654 PROVISIONAL