AC011491.1 (adenylate kinase isoenzyme 1-like) - Rat Genome Database

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Gene: AC011491.1 (adenylate kinase isoenzyme 1-like) Homo sapiens
Analyze
Symbol: AC011491.1
Name: adenylate kinase isoenzyme 1-like
RGD ID: 16552124
Description:
Type: pseudo (Ensembl: transcribed_unitary_pseudogene)
RefSeq Status: VALIDATED
Previously known as: CTB-180A7.8; LOC390877
RGD Orthologs
Bonobo
Dog
Squirrel
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38.p14 Ensembl - Human Genome Assembly GRCh38 Ensembl
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38196,393,769 - 6,412,404 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl196,393,794 - 6,412,404 (+)EnsemblGRCh38hg38GRCh38
GRCh37196,393,780 - 6,412,415 (+)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map19p13.3NCBI
HuRef196,156,881 - 6,172,748 (+)NCBIHuRef
CHM1_1196,395,981 - 6,412,020 (+)NCBICHM1_1
T2T-CHM13v2.0196,382,670 - 6,401,289 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


References
Additional References at PubMed
PMID:12477932  


Genomics

Comparative Map Data
AC011491.1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38196,393,769 - 6,412,404 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl196,393,794 - 6,412,404 (+)EnsemblGRCh38hg38GRCh38
GRCh37196,393,780 - 6,412,415 (+)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map19p13.3NCBI
HuRef196,156,881 - 6,172,748 (+)NCBIHuRef
CHM1_1196,395,981 - 6,412,020 (+)NCBICHM1_1
T2T-CHM13v2.0196,382,670 - 6,401,289 (+)NCBIT2T-CHM13v2.0
LOC100981094
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22010,810,574 - 10,813,498 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11910,036,510 - 10,039,428 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0195,414,484 - 5,433,685 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1196,337,030 - 6,359,999 (+)NCBIpanpan1.1PanPan1.1panPan2
LOC611724
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12053,756,443 - 53,771,284 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2053,503,396 - 53,518,190 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02054,410,542 - 54,425,551 (-)NCBIROS_Cfam_1.0
UMICH_Zoey_3.12053,477,170 - 53,492,003 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02053,925,583 - 53,940,350 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02054,154,819 - 54,169,874 (-)NCBIUU_Cfam_GSD_1.0
LOC101958018
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118214,069,421 - 214,084,118 (-)NCBIHiC_Itri_2
SpeTri2.0NW_0049365883,750,692 - 3,765,191 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
LOC103233767
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.166,004,384 - 6,018,271 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_0236660812,008,609 - 2,009,301 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
LOC110345909
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248283,523,290 - 3,534,746 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3 copy number gain See cases [RCV000052879] Chr19:1972245..9648879 [GRCh38]
Chr19:1972244..9759555 [GRCh37]
Chr19:1923244..9620555 [NCBI36]
Chr19:19p13.3-13.2		 pathogenic
GRCh38/hg38 19p13.3(chr19:259395-6795611)x3 copy number gain See cases [RCV000142627] Chr19:259395..6795611 [GRCh38]
Chr19:259395..6795622 [GRCh37]
Chr19:210395..6746622 [NCBI36]
Chr19:19p13.3		 pathogenic
GRCh38/hg38 19p13.3(chr19:4934885-6501642)x3 copy number gain See cases [RCV000052882] Chr19:4934885..6501642 [GRCh38]
Chr19:4934897..6501653 [GRCh37]
Chr19:4885897..6452653 [NCBI36]
Chr19:19p13.3		 pathogenic
GRCh38/hg38 19p13.3-13.2(chr19:5905175-6916287)x3 copy number gain See cases [RCV000139338] Chr19:5905175..6916287 [GRCh38]
Chr19:5905186..6916298 [GRCh37]
Chr19:5856186..6867298 [NCBI36]
Chr19:19p13.3-13.2		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:932
Count of miRNA genes:438
Interacting mature miRNAs:484
Transcripts:ENST00000398173, ENST00000593563, ENST00000596254
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 2 2 1 22 1 7 3 8 1 379 11 1
Below cutoff 427 301 419 98 312 73 677 309 980 119 291 439 31 170 383 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000593563
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl196,393,809 - 6,411,777 (+)Ensembl
RefSeq Acc Id: ENST00000596254
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl196,396,345 - 6,412,404 (+)Ensembl
RefSeq Acc Id: ENST00000637688
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl196,393,794 - 6,412,338 (+)Ensembl
RefSeq Acc Id: NR_172890
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38196,393,769 - 6,412,404 (+)NCBI
T2T-CHM13v2.0196,382,670 - 6,401,289 (+)NCBI

Additional Information

Database Acc Id Source(s)
COSMIC AC011491.1 COSMIC
Ensembl Genes ENSG00000214347 Ensembl
  ENSG00000293438 ENTREZGENE
Ensembl Transcript ENST00000596254 ENTREZGENE
GTEx ENSG00000214347 GTEx
  ENSG00000293438 GTEx
Human Proteome Map AC011491.1 Human Proteome Map
NCBI Gene LOC390877 ENTREZGENE


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2020-06-25 AC011491.1  adenylate kinase isoenzyme 1-like  LOC390877  adenylate kinase isoenzyme 1-like  Symbol and/or name change 19259462 PROVISIONAL
2020-06-18 LOC390877  adenylate kinase isoenzyme 1-like  AC011491.1  adenylate kinase isoenzyme 1-like  Symbol and/or name change 5135510 APPROVED