KANSL1-AS1 (KANSL1 antisense RNA 1) - Rat Genome Database

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Gene: KANSL1-AS1 (KANSL1 antisense RNA 1) Homo sapiens
Analyze
Symbol: KANSL1-AS1
Name: KANSL1 antisense RNA 1
RGD ID: 5688525
HGNC Page HGNC:43740
Description: ASSOCIATED WITH Breast Neoplasms; Koolen de Vries syndrome; INTERACTS WITH 2-hydroxypropanoic acid; aflatoxin B1; bisphenol A
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
GRCh381746,193,573 - 46,196,723 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1746,193,566 - 46,197,842 (+)EnsemblGRCh38hg38GRCh38
GRCh371744,270,939 - 44,274,089 (+)NCBIGRCh37GRCh37hg19GRCh37
Celera1740,918,172 - 40,921,322 (+)NCBICelera
Cytogenetic Map17q21.31NCBI
HuRef1739,933,142 - 39,936,292 (+)NCBIHuRef
CHM1_11744,517,755 - 44,520,905 (+)NCBICHM1_1
T2T-CHM13v2.01747,055,163 - 47,058,313 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8889548   PMID:12477932  


Genomics


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3 copy number gain See cases [RCV000137437] Chr17:36449220..75053130 [GRCh38]
Chr17:57595736..73049225 [GRCh37]
Chr17:54950518..70560820 [NCBI36]
Chr17:17q23.1-25.1		 pathogenic
GRCh38/hg38 17q21.31(chr17:46133397-46267672)x3 copy number gain See cases [RCV000135868] Chr17:46133397..46267672 [GRCh38]
Chr17:44210763..44345038 [GRCh37]
Chr17:41566540..41700815 [NCBI36]
Chr17:17q21.31		 benign
GRCh38/hg38 17q21.31(chr17:46133397-46267672)x1 copy number loss See cases [RCV000135869] Chr17:46133397..46267672 [GRCh38]
Chr17:44223908..44345038 [GRCh37]
Chr17:41566540..41700815 [NCBI36]
Chr17:17q21.31		 benign
GRCh38/hg38 17q21.31(chr17:46094551-46291496)x3 copy number gain See cases [RCV000136371] Chr17:46094551..46291496 [GRCh38]
Chr17:44171917..44368862 [GRCh37]
Chr17:41527734..41724639 [NCBI36]
Chr17:17q21.31		 benign
GRCh38/hg38 17q21.31(chr17:46094551-46247855)x3 copy number gain See cases [RCV000136439] Chr17:46094551..46247855 [GRCh38]
Chr17:44171917..44325221 [GRCh37]
Chr17:41527734..41680998 [NCBI36]
Chr17:17q21.31		 benign
GRCh38/hg38 17q21.31(chr17:46111105-46291496)x1 copy number loss See cases [RCV000136161] Chr17:46111105..46291496 [GRCh38]
Chr17:44223908..44368862 [GRCh37]
Chr17:41544254..41724639 [NCBI36]
Chr17:17q21.31		 benign
GRCh38/hg38 17q21.31(chr17:46130519-46661960)x1 copy number loss See cases [RCV000136001] Chr17:46130519..46661960 [GRCh38]
Chr17:44223908..44694311 [GRCh37]
Chr17:41563662..42049627 [NCBI36]
Chr17:17q21.31		 benign|likely benign|conflicting data from submitters
GRCh38/hg38 17q21.31(chr17:45640337-46267672)x1 copy number loss See cases [RCV000136809] Chr17:45640337..46267672 [GRCh38]
Chr17:43717703..44345038 [GRCh37]
Chr17:41073486..41700815 [NCBI36]
Chr17:17q21.31		 pathogenic
GRCh38/hg38 17q21.31(chr17:46154580-46267672)x1 copy number loss See cases [RCV000136839] Chr17:46154580..46267672 [GRCh38]
Chr17:41587723..41700815 [NCBI36]
Chr17:17q21.31		 benign
GRCh38/hg38 17q21.31(chr17:46154580-46267672)x3 copy number gain See cases [RCV000136838] Chr17:46154580..46267672 [GRCh38]
Chr17:41587723..41700815 [NCBI36]
Chr17:17q21.31		 benign
GRCh38/hg38 17q21.31(chr17:45629520-46273786)x1 copy number loss See cases [RCV000137525] Chr17:45629520..46273786 [GRCh38]
Chr17:43706886..44351152 [GRCh37]
Chr17:41062669..41706929 [NCBI36]
Chr17:17q21.31		 pathogenic
GRCh38/hg38 17q21.31(chr17:45574365-46273786)x1 copy number loss See cases [RCV000137388] Chr17:45574365..46273786 [GRCh38]
Chr17:43651731..44351152 [GRCh37]
Chr17:41007514..41706929 [NCBI36]
Chr17:17q21.31		 pathogenic
GRCh38/hg38 17q21.31(chr17:45516110-46211895)x1 copy number loss See cases [RCV000138022] Chr17:45516110..46211895 [GRCh38]
Chr17:43593476..44224221 [GRCh37]
Chr17:40949259..41645038 [NCBI36]
Chr17:17q21.31		 pathogenic
GRCh38/hg38 17q21.31(chr17:46161863-46661960)x3 copy number gain See cases [RCV000138747] Chr17:46161863..46661960 [GRCh38]
Chr17:44305975..44597336 [GRCh37]
Chr17:41595006..41952652 [NCBI36]
Chr17:17q21.31		 benign
GRCh38/hg38 17q21.31(chr17:45579327-46661960)x1 copy number loss See cases [RCV000139406] Chr17:45579327..46661960 [GRCh38]
Chr17:43656693..44694311 [GRCh37]
Chr17:41012476..42049627 [NCBI36]
Chr17:17q21.31		 pathogenic
GRCh38/hg38 17q21.31(chr17:46130519-46799417)x1 copy number loss See cases [RCV000139073] Chr17:46130519..46799417 [GRCh38]
Chr17:44223908..44873614 [GRCh37]
Chr17:41563662..42231947 [NCBI36]
Chr17:17q21.31		 benign
GRCh38/hg38 17q21.31(chr17:46061149-46661960)x1 copy number loss See cases [RCV000138915] Chr17:46061149..46661960 [GRCh38]
Chr17:44138515..44694311 [GRCh37]
Chr17:41494333..42049627 [NCBI36]
Chr17:17q21.31		 likely benign
GRCh38/hg38 17q21.31(chr17:46130519-46380808)x3 copy number gain See cases [RCV000139148] Chr17:46130519..46380808 [GRCh38]
Chr17:44223908..44485830 [GRCh37]
Chr17:41563662..41841246 [NCBI36]
Chr17:17q21.31		 benign|likely benign|conflicting data from submitters
GRCh38/hg38 17q21.31(chr17:46130519-46380808)x1 copy number loss See cases [RCV000139149] Chr17:46130519..46380808 [GRCh38]
Chr17:44207885..44458174 [GRCh37]
Chr17:41563662..41841246 [NCBI36]
Chr17:17q21.31		 benign|likely benign|conflicting data from submitters
GRCh38/hg38 17q21.31(chr17:46176989-46661960)x1 copy number loss See cases [RCV000141505] Chr17:46176989..46661960 [GRCh38]
Chr17:44305975..44694283 [GRCh37]
Chr17:41610132..42049599 [NCBI36]
Chr17:17q21.31		 benign
GRCh38/hg38 17q21.31(chr17:46133397-46710558)x3 copy number gain See cases [RCV000141569] Chr17:46133397..46710558 [GRCh38]
Chr17:44223908..44787924 [GRCh37]
Chr17:41566540..42143107 [NCBI36]
Chr17:17q21.31		 benign
GRCh38/hg38 17q21.31(chr17:46130611-46661960)x3 copy number gain See cases [RCV000142378] Chr17:46130611..46661960 [GRCh38]
Chr17:44223908..44694283 [GRCh37]
Chr17:41563754..42049599 [NCBI36]
Chr17:17q21.31		 benign
GRCh38/hg38 17q21.31(chr17:46094491-46275893)x3 copy number gain See cases [RCV000142849] Chr17:46094491..46275893 [GRCh38]
Chr17:44171857..44353259 [GRCh37]
Chr17:41527674..41709036 [NCBI36]
Chr17:17q21.31		 likely benign
GRCh38/hg38 17q21.31(chr17:46130519-46662118)x3 copy number gain See cases [RCV000142621] Chr17:46130519..46662118 [GRCh38]
Chr17:44207885..44739337 [GRCh37]
Chr17:41563662..42049627 [NCBI36]
Chr17:17q21.31		 likely benign
GRCh38/hg38 17q21.31(chr17:46111075-46661960)x1 copy number loss See cases [RCV000148199] Chr17:46111075..46661960 [GRCh38]
Chr17:44223908..44694283 [GRCh37]
Chr17:41544224..42049599 [NCBI36]
Chr17:17q21.31		 benign
GRCh38/hg38 17q21.31(chr17:45578381-46273786)x1 copy number loss See cases [RCV000148093] Chr17:45578381..46273786 [GRCh38]
Chr17:43655747..44351152 [GRCh37]
Chr17:41011530..41706929 [NCBI36]
Chr17:17q21.31		 pathogenic
GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3 copy number gain See cases [RCV000050957] Chr17:36449220..68170214 [GRCh38]
Chr17:48563237..65936105 [GRCh37]
Chr17:45918236..63677950 [NCBI36]
Chr17:17q21.33-24.2		 pathogenic
GRCh38/hg38 17q21.31(chr17:46176989-46742963)x1 copy number loss See cases [RCV000050976] Chr17:46176989..46742963 [GRCh38]
Chr17:44305975..44820329 [GRCh37]
Chr17:41610132..42175497 [NCBI36]
Chr17:17q21.31		 benign
GRCh38/hg38 17q21.31(chr17:46061147-46661960)x1 copy number loss See cases [RCV000051174] Chr17:46061147..46661960 [GRCh38]
Chr17:44138513..44694283 [GRCh37]
Chr17:41494331..42049599 [NCBI36]
Chr17:17q21.31		 benign
GRCh38/hg38 17q21.31(chr17:45629520-46661960)x1 copy number loss See cases [RCV000050643] Chr17:45629520..46661960 [GRCh38]
Chr17:43706886..44694283 [GRCh37]
Chr17:41062669..42049599 [NCBI36]
Chr17:17q21.31		 pathogenic
GRCh38/hg38 17q21.31(chr17:45575861-46274278)x1 copy number loss See cases [RCV000051239] Chr17:45575861..46274278 [GRCh38]
Chr17:43653227..44351644 [GRCh37]
Chr17:41009010..41707421 [NCBI36]
Chr17:17q21.31		 pathogenic
GRCh38/hg38 17q21.31(chr17:45598042-46273786)x1 copy number loss See cases [RCV000051240] Chr17:45598042..46273786 [GRCh38]
Chr17:43675408..44351152 [GRCh37]
Chr17:41031191..41706929 [NCBI36]
Chr17:17q21.31		 pathogenic
GRCh38/hg38 17q21.31(chr17:45629320-46380808)x1 copy number loss See cases [RCV000051243] Chr17:45629320..46380808 [GRCh38]
Chr17:43706686..44485971 [GRCh37]
Chr17:41062469..41841387 [NCBI36]
Chr17:17q21.31		 pathogenic
GRCh38/hg38 17q21.31(chr17:45640337-46273786)x1 copy number loss See cases [RCV000051257] Chr17:45640337..46273786 [GRCh38]
Chr17:43717703..44351152 [GRCh37]
Chr17:41073486..41706929 [NCBI36]
Chr17:17q21.31		 pathogenic
GRCh38/hg38 17q21.31(chr17:45674308-46273786)x1 copy number loss See cases [RCV000051258] Chr17:45674308..46273786 [GRCh38]
Chr17:43751674..44351152 [GRCh37]
Chr17:41107457..41706929 [NCBI36]
Chr17:17q21.31		 pathogenic
GRCh38/hg38 17q21.31(chr17:46111075-46661960)x1 copy number loss See cases [RCV000050262] Chr17:46111075..46661960 [GRCh38]
Chr17:44223908..44694283 [GRCh37]
Chr17:41544224..42049599 [NCBI36]
Chr17:17q21.31		 benign
GRCh38/hg38 17q21.31(chr17:45578381-46273786)x1 copy number loss See cases [RCV000050776] Chr17:45578381..46273786 [GRCh38]
Chr17:43655747..44351152 [GRCh37]
Chr17:41011530..41706929 [NCBI36]
Chr17:17q21.31		 pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 17q21.31-21.33(chr17:44955325-49381173)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052480]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052480]|See cases [RCV000052480] Chr17:44955325..49381173 [GRCh38]
Chr17:43032693..47458535 [GRCh37]
Chr17:40388219..44813534 [NCBI36]
Chr17:17q21.31-21.33		 pathogenic
GRCh38/hg38 17q23.2-25.3(chr17:36449220-83086677)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|See cases [RCV000052483] Chr17:36449220..83086677 [GRCh38]
Chr17:58617905..81044553 [GRCh37]
Chr17:55972687..78637842 [NCBI36]
Chr17:17q23.2-25.3		 pathogenic
NC_000017.11:g.46084075_46502770dup duplication Large for gestational age [RCV000161811] Chr17:46084075..46502770 [GRCh38]
Chr17:44161441..44580136 [GRCh37]
Chr17:17q21.31		 not provided
NC_000017.11:g.46084075_46290846dup duplication Large for gestational age [RCV000161812] Chr17:46084075..46290846 [GRCh38]
Chr17:44161441..44368212 [GRCh37]
Chr17:17q21.31		 not provided
NC_000017.11:g.46092442_46290846dup duplication Large for gestational age [RCV000161817]|Normal pregnancy [RCV000161813]|Small for gestational age [RCV000161816] Chr17:46092442..46290846 [GRCh38]
Chr17:44169808..44368212 [GRCh37]
Chr17:17q21.31		 not provided
NC_000017.11:g.46092442_46502770dup duplication Gestational diabetes mellitus uncontrolled [RCV000161819]|Large for gestational age [RCV000161818]|Normal pregnancy [RCV000161815]|Preeclampsia [RCV000161814] Chr17:46092442..46502770 [GRCh38]
Chr17:44169808..44580136 [GRCh37]
Chr17:17q21.31		 not provided
NC_000017.11:g.46096853_46403941del deletion Koolen-de Vries syndrome [RCV001255972] Chr17:46096853..46403941 [GRCh38]
Chr17:17q21.31		 pathogenic
GRCh38/hg38 17q21.31(chr17:46130641-46273757) copy number gain Diaphragmatic hernia [RCV001823062] Chr17:46130641..46273757 [GRCh38]
Chr17:17q21.31		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:325
Count of miRNA genes:188
Interacting mature miRNAs:191
Transcripts:ENST00000398275, ENST00000572634, ENST00000572973
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
RH91855  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371744,273,822 - 44,273,970UniSTSGRCh37
Build 361741,629,599 - 41,629,747RGDNCBI36
Celera1740,921,055 - 40,921,203RGD
Cytogenetic Map17q21.31UniSTS
HuRef1739,936,025 - 39,936,173UniSTS
GeneMap99-GB4 RH Map17333.2UniSTS
G17974  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371744,263,820 - 44,263,961UniSTSGRCh37
Build 361741,619,597 - 41,619,738RGDNCBI36
Celera1740,911,059 - 40,911,200RGD
Cytogenetic Map17q21.31UniSTS
HuRef1739,926,195 - 39,926,336UniSTS
SHGC-57555  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371744,273,733 - 44,273,889UniSTSGRCh37
Build 361741,629,510 - 41,629,666RGDNCBI36
Celera1740,920,966 - 40,921,122RGD
Cytogenetic Map17q21.31UniSTS
HuRef1739,935,936 - 39,936,092UniSTS
TNG Radiation Hybrid Map1720895.0UniSTS


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 visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 584 542 374 56 287 32 1226 603 542 107 394 412 26 345 850
Low 1848 2428 1348 564 1627 428 3120 1585 3185 310 1060 1193 148 1 859 1936 6 2
Below cutoff 6 21 4 4 30 5 10 9 5 2 5 8 2

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000398275
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1746,193,566 - 46,196,723 (+)Ensembl
RefSeq Acc Id: ENST00000572634
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1746,196,058 - 46,196,723 (+)Ensembl
RefSeq Acc Id: ENST00000572973
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1746,193,632 - 46,196,537 (+)Ensembl
RefSeq Acc Id: ENST00000686301
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1746,193,568 - 46,197,842 (+)Ensembl
RefSeq Acc Id: NR_034172
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381746,193,573 - 46,196,723 (+)NCBI
GRCh371744,270,939 - 44,274,089 (+)ENTREZGENE
HuRef1739,933,142 - 39,936,292 (+)ENTREZGENE
CHM1_11744,517,755 - 44,520,905 (+)NCBI
T2T-CHM13v2.01747,055,163 - 47,058,313 (+)NCBI
Sequence:
Protein Sequences
GenBank Protein AAH20847 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences

Promoters
RGD ID:15097053
Promoter ID:EPDNEWNC_H1894
Type:initiation region
Name:KANSL1-AS1_1
Description:KANSL1 antisense RNA 1 [Source:HGNC Symbol;Acc:HGNC:43740]
SO ACC ID:SO:0000170
Source:EPDNEWNC (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381746,193,573 - 46,193,633EPDNEWNC

Additional Information

Database Acc Id Source(s)
COSMIC KANSL1-AS1 COSMIC
Ensembl Genes ENSG00000214401 Ensembl, ENTREZGENE
Ensembl Transcript ENST00000398275 ENTREZGENE
GTEx ENSG00000214401 GTEx
HGNC ID HGNC:43740 ENTREZGENE
Human Proteome Map KANSL1-AS1 Human Proteome Map
NCBI Gene KANSL1-AS1 ENTREZGENE
RNAcentral URS000075ED2D RNACentral


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2012-08-21 KANSL1-AS1  KANSL1 antisense RNA 1  KANSL1-AS1  KANSL1 antisense RNA 1 (non-protein coding)  Symbol and/or name change 5135510 APPROVED