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

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Gene: IKBKE-AS1 (IKBKE antisense RNA 1) Homo sapiens
Analyze
Symbol: IKBKE-AS1
Name: IKBKE antisense RNA 1
RGD ID: 9588208
HGNC Page HGNC:32061
Description: ASSOCIATED WITH Autism; autistic disorder; familial adult myoclonic epilepsy 5; INTERACTS WITH lipopolysaccharide; S-(1,2-dichlorovinyl)-L-cysteine
Type: ncrna (Ensembl: lncRNA)
RefSeq Status: VALIDATED
Previously known as: C1orf147; chromosome 1 open reading frame 147; chromosome 1 putative open reading frame 147
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381206,491,116 - 206,497,728 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1206,491,116 - 206,497,728 (-)EnsemblGRCh38hg38GRCh38
GRCh371206,664,449 - 206,671,061 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361204,732,344 - 204,737,678 (-)NCBINCBI36Build 36hg18NCBI36
Celera1179,915,894 - 179,922,505 (-)NCBICelera
Cytogenetic Map1q32.1NCBI
HuRef1177,362,757 - 177,369,372 (-)NCBIHuRef
CHM1_11213,469,262 - 213,475,874 (-)NCBICHM1_1
T2T-CHM13v2.01205,755,278 - 205,761,891 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


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

Human Phenotype
References
Additional References at PubMed
PMID:14702039   PMID:16710414  


Genomics

Variants

.
Variants in IKBKE-AS1
8 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
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 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 1q32.1-32.2(chr1:204990129-210220258)x3 copy number gain See cases [RCV000051859] Chr1:204990129..210220258 [GRCh38]
Chr1:204959257..210572305 [GRCh37]
Chr1:203225880..208638928 [NCBI36]
Chr1:1q32.1-32.2		 pathogenic
GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3 copy number gain See cases [RCV000240137] Chr1:197811907..228997888 [GRCh37]
Chr1:1q31.3-42.13		 pathogenic
GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3 copy number gain See cases [RCV000449172] Chr1:195483439..249213000 [GRCh37]
Chr1:1q31.3-44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1q32.1-32.3(chr1:204682513-212815646) copy number loss Global developmental delay [RCV000626524] Chr1:204682513..212815646 [GRCh37]
Chr1:1q32.1-32.3		 pathogenic
NM_014002.4(IKBKE):c.1988C>T (p.Ala663Val) single nucleotide variant Inborn genetic diseases [RCV003287025] Chr1:206493321 [GRCh38]
Chr1:206666654 [GRCh37]
Chr1:1q32.1		 uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1q25.3-41(chr1:185644663-221698833)x3 copy number gain not provided [RCV000749265] Chr1:185644663..221698833 [GRCh37]
Chr1:1q25.3-41		 pathogenic
GRCh37/hg19 1q32.1-32.3(chr1:206329070-213263817)x3 copy number gain not provided [RCV000848713] Chr1:206329070..213263817 [GRCh37]
Chr1:1q32.1-32.3		 uncertain significance
GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3 copy number gain not provided [RCV000845852] Chr1:182388773..249111240 [GRCh37]
Chr1:1q25.3-44		 pathogenic
GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3 copy number gain See cases [RCV001007407] Chr1:204045948..249218992 [GRCh37]
Chr1:1q32.1-44		 pathogenic
GRCh37/hg19 1q31.3-32.2(chr1:194356425-210988710)x3 copy number gain not provided [RCV001249273] Chr1:194356425..210988710 [GRCh37]
Chr1:1q31.3-32.2		 not provided
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44		 uncertain significance
NC_000001.11:g.(?_204033173)_(208209798_?)del deletion Autism [RCV000754138] Chr1:204033173..208209798 [GRCh38]
Chr1:1q32.1-32.2		 likely pathogenic
NC_000001.10:g.(?_200522516)_(206945780_?)dup duplication Epilepsy, familial adult myoclonic, 5 [RCV003116306] Chr1:200522516..206945780 [GRCh37]
Chr1:1q32.1		 uncertain significance
NC_000001.10:g.(?_200522516)_(208391267_?)dup duplication Hypokalemic periodic paralysis, type 1 [RCV003119239]|not provided [RCV003119240] Chr1:200522516..208391267 [GRCh37]
Chr1:1q32.1-32.2		 uncertain significance|no classifications from unflagged records
GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3 copy number gain See cases [RCV002287837] Chr1:197867914..249224684 [GRCh37]
Chr1:1q31.3-44		 pathogenic
NM_014002.4(IKBKE):c.2113G>C (p.Glu705Gln) single nucleotide variant Inborn genetic diseases [RCV002863956] Chr1:206493987 [GRCh38]
Chr1:206667320 [GRCh37]
Chr1:1q32.1		 uncertain significance
GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3 copy number gain not provided [RCV002475637] Chr1:181453460..213107248 [GRCh37]
Chr1:1q25.3-32.3		 pathogenic
NM_014002.4(IKBKE):c.1952A>G (p.His651Arg) single nucleotide variant Inborn genetic diseases [RCV002737866] Chr1:206493285 [GRCh38]
Chr1:206666618 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014002.4(IKBKE):c.1897A>G (p.Thr633Ala) single nucleotide variant Inborn genetic diseases [RCV002917128] Chr1:206493084 [GRCh38]
Chr1:206666417 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014002.4(IKBKE):c.2000C>G (p.Pro667Arg) single nucleotide variant Inborn genetic diseases [RCV002787680] Chr1:206493333 [GRCh38]
Chr1:206666666 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014002.4(IKBKE):c.1973C>T (p.Ala658Val) single nucleotide variant Inborn genetic diseases [RCV003201854] Chr1:206493306 [GRCh38]
Chr1:206666639 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014002.4(IKBKE):c.1953C>G (p.His651Gln) single nucleotide variant Inborn genetic diseases [RCV003385442] Chr1:206493286 [GRCh38]
Chr1:206666619 [GRCh37]
Chr1:1q32.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:682
Count of miRNA genes:498
Interacting mature miRNAs:537
Transcripts:ENST00000367119
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.


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
Low 450 718 678 155 1338 29 1420 50 370 62 419 1058 134 228 768 1
Below cutoff 1787 1981 914 357 512 322 2346 1476 2912 229 888 452 35 947 1498 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000367119
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1206,491,116 - 206,497,728 (-)Ensembl
RefSeq Acc Id: NR_172918
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381206,491,116 - 206,497,728 (-)NCBI
T2T-CHM13v2.01205,755,278 - 205,761,891 (-)NCBI
Protein Sequences
GenBank Protein BAB71372 (Get FASTA)   NCBI Sequence Viewer  
  CAI15251 (Get FASTA)   NCBI Sequence Viewer  
  EAW93546 (Get FASTA)   NCBI Sequence Viewer  
  Q96MC9 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q96MC9-F1-model_v2 AlphaFold Q96MC9 1-270 view protein structure


Additional Information

Database Acc Id Source(s)
COSMIC IKBKE-AS1 COSMIC
Ensembl Genes ENSG00000162888 Ensembl, ENTREZGENE
Ensembl Transcript ENST00000367119 ENTREZGENE
GTEx ENSG00000162888 GTEx
HGNC ID HGNC:32061 ENTREZGENE
Human Proteome Map IKBKE-AS1 Human Proteome Map
NCBI Gene C1orf147 ENTREZGENE
PharmGKB PA142672464 PharmGKB
RNAcentral URS00007BFCE4 RNACentral
UniProt CA147_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary Q5JTS5 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2022-09-26 IKBKE-AS1  IKBKE antisense RNA 1  C1orf147  chromosome 1 putative open reading frame 147  Symbol and/or name change 19259463 PROVISIONAL
2022-07-11 C1orf147  chromosome 1 putative open reading frame 147  C1orf147  chromosome 1 open reading frame 147  Symbol and/or name change 19259463 PROVISIONAL