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

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Gene: TONSL-AS1 (TONSL antisense RNA 1) Homo sapiens
Analyze
Symbol: TONSL-AS1
Name: TONSL antisense RNA 1
RGD ID: 9847012
HGNC Page HGNC
Description: ASSOCIATED WITH spondyloepimetaphyseal dysplasia, Sponastrime type
Type: ncrna
RefSeq Status: VALIDATED
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8144,437,675 - 144,439,971 (+)EnsemblGRCh38hg38GRCh38
GRCh388144,435,168 - 144,439,893 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378145,660,551 - 145,665,276 (+)NCBIGRCh37GRCh37hg19GRCh37
Celera8141,834,991 - 141,838,084 (+)NCBI
Cytogenetic Map8q24.3NCBI
HuRef8140,766,539 - 140,776,283 (+)NCBIHuRef
CHM1_18145,698,792 - 145,703,517 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

References
Additional References at PubMed
PMID:16344560   PMID:31158361   PMID:32414422  


Genomics


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 17 3 3 17 3 2 3 9 1 59 23 1
Low 1575 964 1494 474 982 364 1739 510 1723 258 1159 1410 121 517 836 3
Below cutoff 753 1597 213 135 637 91 1931 1147 1741 142 189 155 44 633 1326 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000442850
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,437,675 - 144,439,971 (+)Ensembl
RefSeq Acc Id: NR_109770
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,435,168 - 144,439,893 (+)NCBI
CHM1_18145,698,792 - 145,703,517 (+)NCBI
Sequence:
Protein Sequences
GenBank Protein BAH12821 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3 copy number gain See cases [RCV000050638] Chr8:113580402..145054634 [GRCh38]
Chr8:114592631..146280020 [GRCh37]
Chr8:114661807..146250824 [NCBI36]
Chr8:8q23.3-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:144002671-144796947)x3 copy number gain See cases [RCV000050640] Chr8:144002671..144796947 [GRCh38]
Chr8:145076839..146022332 [GRCh37]
Chr8:145148827..145993136 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3 copy number gain See cases [RCV000050830] Chr8:128220912..145049449 [GRCh38]
Chr8:129233158..146274835 [GRCh37]
Chr8:129302340..146245639 [NCBI36]
Chr8:8q24.21-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:144287919-144723120)x3 copy number gain See cases [RCV000052187] Chr8:144287919..144723120 [GRCh38]
Chr8:145511620..145948505 [GRCh37]
Chr8:145482428..145919314 [NCBI36]
Chr8:8q24.3
uncertain significance
GRCh38/hg38 8q24.3(chr8:144375621-144605333)x3 copy number gain See cases [RCV000052188] Chr8:144375621..144605333 [GRCh38]
Chr8:145599310..145830717 [GRCh37]
Chr8:145570118..145801525 [NCBI36]
Chr8:8q24.3
uncertain significance
GRCh38/hg38 8q24.3(chr8:144392063-144458958)x3 copy number gain See cases [RCV000052189] Chr8:144392063..144458958 [GRCh38]
Chr8:145617263..145684341 [GRCh37]
Chr8:145588071..145655149 [NCBI36]
Chr8:8q24.3
uncertain significance
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000053678] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:139447227-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|See cases [RCV000053701] Chr8:139447227..145054775 [GRCh38]
Chr8:140459470..146280161 [GRCh37]
Chr8:140528652..146250965 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:144002671-145054634)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053702]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053702]|See cases [RCV000053702] Chr8:144002671..145054634 [GRCh38]
Chr8:145076839..146280020 [GRCh37]
Chr8:145148827..146250824 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:144002471-145054775)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054311]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054311]|See cases [RCV000054311] Chr8:144002471..145054775 [GRCh38]
Chr8:145076639..146280161 [GRCh37]
Chr8:145148627..146250965 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:144264907-144668170)x1 copy number loss See cases [RCV000134352] Chr8:144264907..144668170 [GRCh38]
Chr8:145319810..145893555 [GRCh37]
Chr8:145391798..145864363 [NCBI36]
Chr8:8q24.3
benign
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:139004218-145049449)x3 copy number gain See cases [RCV000137340] Chr8:139004218..145049449 [GRCh38]
Chr8:140016461..146274835 [GRCh37]
Chr8:140085643..146245639 [NCBI36]
Chr8:8q24.3
likely pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3 copy number gain See cases [RCV000137346] Chr8:124498498..145068712 [GRCh38]
Chr8:125510739..146294098 [GRCh37]
Chr8:125579920..146264902 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:139236824-145068712)x3 copy number gain See cases [RCV000137466] Chr8:139236824..145068712 [GRCh38]
Chr8:140249067..146294098 [GRCh37]
Chr8:140318249..146264902 [NCBI36]
Chr8:8q24.3
likely pathogenic
GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3 copy number gain See cases [RCV000137644] Chr8:130639182..145068712 [GRCh38]
Chr8:131651428..146294098 [GRCh37]
Chr8:131720610..146264902 [NCBI36]
Chr8:8q24.22-24.3
pathogenic|conflicting data from submitters
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:144340449-144585787)x3 copy number gain See cases [RCV000140255] Chr8:144340449..144585787 [GRCh38]
Chr8:145564111..145811171 [GRCh37]
Chr8:145534919..145781979 [NCBI36]
Chr8:8q24.3
likely benign
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3 copy number gain See cases [RCV000141694] Chr8:100867343..145070385 [GRCh38]
Chr8:101879571..146295771 [GRCh37]
Chr8:101948747..146266575 [NCBI36]
Chr8:8q22.3-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3 copy number gain See cases [RCV000142810] Chr8:103306336..145068712 [GRCh38]
Chr8:104318564..146294098 [GRCh37]
Chr8:104387740..146264902 [NCBI36]
Chr8:8q22.3-24.3
pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000148117] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
NM_013432.5(TONSL):c.1602_1612del (p.Ala536fs) deletion Sponastrime dysplasia [RCV000790529] Chr8:144438512..144438522 [GRCh38]
Chr8:145663895..145663905 [GRCh37]
Chr8:8q24.3
pathogenic|likely pathogenic
NM_013432.5(TONSL):c.2638_2647delinsGG (p.Arg880fs) indel Sponastrime dysplasia [RCV000790530] Chr8:144435786..144435795 [GRCh38]
Chr8:145661169..145661178 [GRCh37]
Chr8:8q24.3
pathogenic|likely pathogenic
NM_013432.5(TONSL):c.2363G>A (p.Ser788Asn) single nucleotide variant not provided [RCV000907393] Chr8:144436070 [GRCh38]
Chr8:145661453 [GRCh37]
Chr8:8q24.3
benign
NM_013432.5(TONSL):c.2800C>T (p.Arg934Trp) single nucleotide variant Sponastrime dysplasia [RCV000790525] Chr8:144435526 [GRCh38]
Chr8:145660909 [GRCh37]
Chr8:8q24.3
pathogenic
NM_013432.5(TONSL):c.2407C>T (p.Gln803Ter) single nucleotide variant Sponastrime dysplasia [RCV000790526] Chr8:144436026 [GRCh38]
Chr8:145661409 [GRCh37]
Chr8:8q24.3
pathogenic|likely pathogenic
NM_013432.5(TONSL):c.1837G>T (p.Val613Leu) single nucleotide variant Skeletal dysplaisia with extra-skeletal manifestations [RCV001261771]|TONSL-related condition [RCV000791264] Chr8:144436810 [GRCh38]
Chr8:145662193 [GRCh37]
Chr8:8q24.3
likely pathogenic|uncertain significance
NM_013432.5(TONSL):c.1673G>A (p.Arg558Gln) single nucleotide variant Sponastrime dysplasia [RCV000790535] Chr8:144437080 [GRCh38]
Chr8:145662463 [GRCh37]
Chr8:8q24.3
pathogenic
NM_013432.5(TONSL):c.1864dup (p.Ala622fs) duplication Sponastrime dysplasia [RCV001261723] Chr8:144436782..144436783 [GRCh38]
Chr8:145662165..145662166 [GRCh37]
Chr8:8q24.3
likely pathogenic
NM_013432.5(TONSL):c.1958C>T (p.Thr653Met) single nucleotide variant Skeletal dysplaisia with extra-skeletal manifestations [RCV001261769] Chr8:144436614 [GRCh38]
Chr8:145661997 [GRCh37]
Chr8:8q24.3
likely pathogenic
NM_013432.5(TONSL):c.2137C>T (p.Gln713Ter) single nucleotide variant Skeletal dysplaisia with extra-skeletal manifestations [RCV001261726] Chr8:144436296 [GRCh38]
Chr8:145661679 [GRCh37]
Chr8:8q24.3
likely pathogenic
NM_013432.5(TONSL):c.1735C>T (p.Arg579Cys) single nucleotide variant not provided [RCV001340842] Chr8:144436912 [GRCh38]
Chr8:145662295 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_013432.5(TONSL):c.2479G>A (p.Glu827Lys) single nucleotide variant not provided [RCV001313307] Chr8:144435954 [GRCh38]
Chr8:145661337 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_013432.5(TONSL):c.2458C>T (p.Pro820Ser) single nucleotide variant not provided [RCV001352419] Chr8:144435975 [GRCh38]
Chr8:145661358 [GRCh37]
Chr8:8q24.3
uncertain significance

Additional Information

Database Acc Id Source(s)
COSMIC TONSL-AS1 COSMIC
Ensembl Genes ENSG00000232600 Ensembl
GTEx ENSG00000232600 GTEx
HGNC ID HGNC:51556 ENTREZGENE
Human Proteome Map TONSL-AS1 Human Proteome Map
NCBI Gene TONSL-AS1 ENTREZGENE
RNAcentral URS000075A6FB RNACentral