AK5 (adenylate kinase 5) - Rat Genome Database

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Gene: AK5 (adenylate kinase 5) Homo sapiens
Analyze
Symbol: AK5
Name: adenylate kinase 5
RGD ID: 1353587
HGNC Page HGNC:365
Description: Enables nucleoside diphosphate kinase activity. Predicted to be involved in ADP biosynthetic process; dADP biosynthetic process; and pyrimidine ribonucleotide biosynthetic process. Located in centriolar satellite and cytosol.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: adenylate kinase 6; adenylate kinase isoenzyme 5; AK 5; AK6; ATP-AMP transphosphorylase 5; MGC33326
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38177,282,019 - 77,559,966 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl177,282,019 - 77,559,966 (+)EnsemblGRCh38hg38GRCh38
GRCh37177,747,704 - 78,025,651 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36177,520,330 - 77,798,242 (+)NCBINCBI36Build 36hg18NCBI36
Build 34177,459,762 - 77,737,673NCBI
Celera175,987,128 - 76,265,178 (+)NCBICelera
Cytogenetic Map1p31.1NCBI
HuRef175,878,838 - 76,157,458 (+)NCBIHuRef
CHM1_1177,863,034 - 78,141,541 (+)NCBICHM1_1
T2T-CHM13v2.0177,120,194 - 77,398,823 (+)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
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
centriolar satellite  (IDA)
cytoplasm  (IBA,IEA)
cytosol  (IBA,IDA,TAS)

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Dynamics of nucleotide metabolism as a supporter of life phenomena. Noma T J Med Invest. 2005 Aug;52(3-4):127-36.
3. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:10215863   PMID:12477932   PMID:14702039   PMID:15489334   PMID:16169070   PMID:18029348   PMID:18239623   PMID:19647735   PMID:20379614   PMID:21873635   PMID:23416111   PMID:23898208  
PMID:27288770   PMID:31799658   PMID:32393512   PMID:34135408   PMID:34857952   PMID:36724073  


Genomics

Comparative Map Data
AK5
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38177,282,019 - 77,559,966 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl177,282,019 - 77,559,966 (+)EnsemblGRCh38hg38GRCh38
GRCh37177,747,704 - 78,025,651 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36177,520,330 - 77,798,242 (+)NCBINCBI36Build 36hg18NCBI36
Build 34177,459,762 - 77,737,673NCBI
Celera175,987,128 - 76,265,178 (+)NCBICelera
Cytogenetic Map1p31.1NCBI
HuRef175,878,838 - 76,157,458 (+)NCBIHuRef
CHM1_1177,863,034 - 78,141,541 (+)NCBICHM1_1
T2T-CHM13v2.0177,120,194 - 77,398,823 (+)NCBIT2T-CHM13v2.0
Ak5
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm393152,168,461 - 152,373,992 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl3152,168,452 - 152,373,997 (-)EnsemblGRCm39 Ensembl
GRCm383152,462,815 - 152,668,406 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl3152,462,815 - 152,668,360 (-)EnsemblGRCm38mm10GRCm38
MGSCv373152,125,779 - 152,331,104 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv363152,400,201 - 152,605,526 (-)NCBIMGSCv36mm8
Celera3158,931,196 - 159,122,453 (-)NCBICelera
Cytogenetic Map3H3NCBI
cM Map377.16NCBI
Ak5
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82244,057,240 - 244,241,372 (-)NCBIGRCr8
mRatBN7.22241,397,297 - 241,581,483 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2241,397,297 - 241,581,458 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2249,210,841 - 249,399,413 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02247,097,854 - 247,286,423 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02241,997,408 - 242,186,391 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.02257,671,772 - 257,864,385 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2257,671,772 - 257,864,385 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02276,349,770 - 276,531,733 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera2233,329,800 - 233,512,494 (-)NCBICelera
Cytogenetic Map2q45NCBI
Ak5
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542315,587,233 - 15,796,314 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495542315,587,233 - 15,796,314 (-)NCBIChiLan1.0ChiLan1.0
AK5
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21149,329,547 - 149,610,065 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11148,492,330 - 148,772,160 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0176,499,046 - 76,778,856 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1178,584,653 - 78,863,844 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl178,584,653 - 78,863,844 (+)Ensemblpanpan1.1panPan2
AK5
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1669,282,997 - 69,520,903 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl669,284,288 - 69,521,020 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha671,941,051 - 72,178,506 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0669,869,373 - 70,108,061 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl669,869,379 - 70,139,451 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1669,374,102 - 69,611,148 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0669,320,227 - 69,557,015 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0669,806,208 - 70,043,686 (-)NCBIUU_Cfam_GSD_1.0
Ak5
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505888,672,098 - 88,909,204 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365714,182,444 - 4,418,381 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365714,182,450 - 4,418,384 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
AK5
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl6135,745,881 - 136,020,541 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.16135,745,879 - 136,020,585 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.26125,949,135 - 126,223,268 (-)NCBISscrofa10.2Sscrofa10.2susScr3
AK5
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12055,617,768 - 55,901,695 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2055,619,046 - 55,901,639 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603361,612,658 - 61,900,965 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ak5
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474219,630,277 - 19,840,819 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474219,630,058 - 19,840,904 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in AK5
63 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1p31.1-13.3(chr1:72661709-107456880)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051825]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051825]|See cases [RCV000051825] Chr1:72661709..107456880 [GRCh38]
Chr1:73127392..107999502 [GRCh37]
Chr1:72899980..107801025 [NCBI36]
Chr1:1p31.1-13.3		 pathogenic
NM_012093.3(AK5):c.1069+12565A>T single nucleotide variant Lung cancer [RCV000090988] Chr1:77498917 [GRCh38]
Chr1:77964602 [GRCh37]
Chr1:1p31.1		 uncertain significance
GRCh38/hg38 1p32.1-22.3(chr1:58819605-86098611)x1 copy number loss See cases [RCV000136913] Chr1:58819605..86098611 [GRCh38]
Chr1:59285277..86564294 [GRCh37]
Chr1:59057865..86336882 [NCBI36]
Chr1:1p32.1-22.3		 pathogenic
GRCh38/hg38 1p31.1-22.2(chr1:76419302-88628464)x1 copy number loss See cases [RCV000138957] Chr1:76419302..88628464 [GRCh38]
Chr1:76884987..89094147 [GRCh37]
Chr1:76657575..88866735 [NCBI36]
Chr1:1p31.1-22.2		 pathogenic
GRCh38/hg38 1p31.1(chr1:77256993-77510214)x1 copy number loss See cases [RCV000142131] Chr1:77256993..77510214 [GRCh38]
Chr1:77722678..77975899 [GRCh37]
Chr1:77495266..77748487 [NCBI36]
Chr1:1p31.1		 uncertain significance
GRCh38/hg38 1p31.1(chr1:77264562-77493002)x1 copy number loss See cases [RCV000143317] Chr1:77264562..77493002 [GRCh38]
Chr1:77730247..77958687 [GRCh37]
Chr1:77502835..77731275 [NCBI36]
Chr1:1p31.1		 likely benign|uncertain significance
GRCh37/hg19 1p31.1(chr1:77722678-77970795)x1 copy number loss See cases [RCV000448416] Chr1:77722678..77970795 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_174858.3(AK5):c.609= (p.Lys203=) single nucleotide variant not provided [RCV004713972]|not specified [RCV000454614] Chr1:77297857 [GRCh38]
Chr1:77763542 [GRCh37]
Chr1:1p31.1		 benign
NM_174858.3(AK5):c.1681_1683dup (p.Ile561dup) duplication not specified [RCV000454873] Chr1:77558660..77558661 [GRCh38]
Chr1:78024345..78024346 [GRCh37]
Chr1:1p31.1		 benign
NM_174858.3(AK5):c.1059+12C>T single nucleotide variant not provided [RCV004715175]|not specified [RCV000455276] Chr1:77417727 [GRCh38]
Chr1:77883412 [GRCh37]
Chr1:1p31.1		 benign
NM_174858.3(AK5):c.1621-3T>C single nucleotide variant not provided [RCV004715176]|not specified [RCV000456016] Chr1:77558599 [GRCh38]
Chr1:78024284 [GRCh37]
Chr1:1p31.1		 benign
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 1p31.1-22.1(chr1:72044544-92505091)x1 copy number loss See cases [RCV000510161] Chr1:72044544..92505091 [GRCh37]
Chr1:1p31.1-22.1		 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 1p31.1(chr1:74848936-80324850)x3 copy number gain See cases [RCV000510973] Chr1:74848936..80324850 [GRCh37]
Chr1:1p31.1		 uncertain significance
GRCh37/hg19 1p31.1(chr1:75648797-77770044)x1 copy number loss See cases [RCV000510871] Chr1:75648797..77770044 [GRCh37]
Chr1:1p31.1		 likely pathogenic
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 copy number loss not provided [RCV000762767] Chr1:20608823..120546301 [GRCh37]
Chr1:1p36.12-12		 likely benign
GRCh37/hg19 1p31.3-22.3(chr1:64321264-88153669)x1 copy number loss See cases [RCV000511392] Chr1:64321264..88153669 [GRCh37]
Chr1:1p31.3-22.3		 pathogenic|uncertain significance
GRCh37/hg19 1p31.1(chr1:77823556-78281638)x1 copy number loss See cases [RCV000511213] Chr1:77823556..78281638 [GRCh37]
Chr1:1p31.1		 uncertain significance
GRCh37/hg19 1p31.3-31.1(chr1:61351024-79583933)x1 copy number loss See cases [RCV000512152] Chr1:61351024..79583933 [GRCh37]
Chr1:1p31.3-31.1		 pathogenic
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 1p31.1(chr1:71410579-78131158) copy number gain not provided [RCV000767771] Chr1:71410579..78131158 [GRCh37]
Chr1:1p31.1		 pathogenic
GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3 copy number gain Global developmental delay [RCV000787285] Chr1:103343285..103455144 [GRCh37]
Chr1:1p36.22-21.1		 uncertain significance
GRCh37/hg19 1p31.1(chr1:77153809-78015058)x3 copy number gain not provided [RCV000847465] Chr1:77153809..78015058 [GRCh37]
Chr1:1p31.1		 uncertain significance
GRCh37/hg19 1p31.3-22.3(chr1:67851233-86101340)x1 copy number loss not provided [RCV000846441] Chr1:67851233..86101340 [GRCh37]
Chr1:1p31.3-22.3		 pathogenic
GRCh37/hg19 1p31.3-22.1(chr1:68180293-92731957) copy number loss not specified [RCV002053392] Chr1:68180293..92731957 [GRCh37]
Chr1:1p31.3-22.1		 pathogenic
GRCh37/hg19 1p31.1(chr1:77722678-77970795)x1 copy number loss not specified [RCV002053447] Chr1:77722678..77970795 [GRCh37]
Chr1:1p31.1		 uncertain significance
GRCh37/hg19 1p31.1(chr1:77717646-77970795)x1 copy number loss not provided [RCV000684592] Chr1:77717646..77970795 [GRCh37]
Chr1:1p31.1		 uncertain significance
GRCh37/hg19 1p31.1(chr1:77768016-77781567)x1 copy number loss not provided [RCV000736543] Chr1:77768016..77781567 [GRCh37]
Chr1:1p31.1		 benign
GRCh37/hg19 1p31.1(chr1:77955577-78040287)x3 copy number gain not provided [RCV000736544] Chr1:77955577..78040287 [GRCh37]
Chr1:1p31.1		 benign
GRCh37/hg19 1p31.1(chr1:77954138-78053851)x3 copy number gain not provided [RCV000847497] Chr1:77954138..78053851 [GRCh37]
Chr1:1p31.1		 uncertain significance
Single allele deletion not provided [RCV000844927] Chr1:66085524..88429789 [GRCh37]
Chr1:1p31.3-22.2		 not provided
Single allele duplication not specified [RCV002286371] Chr1:66885559..77949895 [GRCh38]
Chr1:1p31.3-31.1		 uncertain significance
NM_174858.3(AK5):c.1420G>A (p.Gly474Arg) single nucleotide variant not specified [RCV004207491] Chr1:77521935 [GRCh38]
Chr1:77987620 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_174858.3(AK5):c.47C>T (p.Pro16Leu) single nucleotide variant not specified [RCV004082392] Chr1:77282360 [GRCh38]
Chr1:77748045 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_174858.3(AK5):c.1393C>T (p.Arg465Trp) single nucleotide variant not specified [RCV004114865] Chr1:77521908 [GRCh38]
Chr1:77987593 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_174858.3(AK5):c.886A>G (p.Met296Val) single nucleotide variant not specified [RCV004082684] Chr1:77340563 [GRCh38]
Chr1:77806248 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_174858.3(AK5):c.1420G>C (p.Gly474Arg) single nucleotide variant not specified [RCV004166622] Chr1:77521935 [GRCh38]
Chr1:77987620 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_174858.3(AK5):c.1344G>A (p.Met448Ile) single nucleotide variant not specified [RCV004177212] Chr1:77521859 [GRCh38]
Chr1:77987544 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_174858.3(AK5):c.487G>A (p.Val163Met) single nucleotide variant not specified [RCV004146678] Chr1:77297630 [GRCh38]
Chr1:77763315 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_174858.3(AK5):c.1010T>C (p.Ile337Thr) single nucleotide variant not specified [RCV004110183] Chr1:77417666 [GRCh38]
Chr1:77883351 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_174858.3(AK5):c.518G>A (p.Ser173Asn) single nucleotide variant not specified [RCV004124961] Chr1:77297661 [GRCh38]
Chr1:77763346 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_174858.3(AK5):c.796G>A (p.Asp266Asn) single nucleotide variant not specified [RCV004122178] Chr1:77340473 [GRCh38]
Chr1:77806158 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_174858.3(AK5):c.290G>A (p.Arg97Gln) single nucleotide variant not specified [RCV004177573] Chr1:77293835 [GRCh38]
Chr1:77759520 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_174858.3(AK5):c.172A>G (p.Thr58Ala) single nucleotide variant not specified [RCV004327430] Chr1:77287052 [GRCh38]
Chr1:77752737 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_174858.3(AK5):c.1595A>T (p.Tyr532Phe) single nucleotide variant not specified [RCV004323861] Chr1:77536013 [GRCh38]
Chr1:78001698 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_174858.3(AK5):c.1291C>T (p.Arg431Cys) single nucleotide variant not specified [RCV004363369] Chr1:77518707 [GRCh38]
Chr1:77984392 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_174858.3(AK5):c.1318G>A (p.Val440Ile) single nucleotide variant not specified [RCV004349734] Chr1:77521833 [GRCh38]
Chr1:77987518 [GRCh37]
Chr1:1p31.1		 likely benign
NM_174858.3(AK5):c.1314C>T (p.Gly438=) single nucleotide variant not provided [RCV003406566] Chr1:77521829 [GRCh38]
Chr1:77987514 [GRCh37]
Chr1:1p31.1		 likely benign
GRCh37/hg19 1p31.1-22.3(chr1:73616197-87012961)x1 copy number loss not provided [RCV003885448] Chr1:73616197..87012961 [GRCh37]
Chr1:1p31.1-22.3		 likely pathogenic
NM_174858.3(AK5):c.1061G>T (p.Gly354Val) single nucleotide variant not specified [RCV004388827] Chr1:77483318 [GRCh38]
Chr1:77949003 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_174858.3(AK5):c.1357G>A (p.Gly453Arg) single nucleotide variant not specified [RCV004391347] Chr1:77521872 [GRCh38]
Chr1:77987557 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_174858.3(AK5):c.1531A>G (p.Thr511Ala) single nucleotide variant not specified [RCV004391394] Chr1:77535949 [GRCh38]
Chr1:78001634 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_174858.3(AK5):c.893T>G (p.Phe298Cys) single nucleotide variant not specified [RCV004396456] Chr1:77410982 [GRCh38]
Chr1:77876667 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_174858.3(AK5):c.1384G>A (p.Gly462Ser) single nucleotide variant not specified [RCV004391357] Chr1:77521899 [GRCh38]
Chr1:77987584 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_174858.3(AK5):c.1504C>T (p.Arg502Trp) single nucleotide variant not specified [RCV004391384] Chr1:77535922 [GRCh38]
Chr1:78001607 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_174858.3(AK5):c.289C>T (p.Arg97Trp) single nucleotide variant not specified [RCV004621532] Chr1:77293834 [GRCh38]
Chr1:77759519 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_174858.3(AK5):c.280C>T (p.Arg94Trp) single nucleotide variant not specified [RCV004108567] Chr1:77293825 [GRCh38]
Chr1:77759510 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_174858.3(AK5):c.195G>T (p.Lys65Asn) single nucleotide variant not specified [RCV004119458] Chr1:77287075 [GRCh38]
Chr1:77752760 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_174858.3(AK5):c.1642G>A (p.Glu548Lys) single nucleotide variant not specified [RCV004153590] Chr1:77558623 [GRCh38]
Chr1:78024308 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_174858.3(AK5):c.1070A>G (p.Gln357Arg) single nucleotide variant not specified [RCV004105866] Chr1:77483327 [GRCh38]
Chr1:77949012 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_174858.3(AK5):c.957A>T (p.Leu319Phe) single nucleotide variant not specified [RCV004197894] Chr1:77411046 [GRCh38]
Chr1:77876731 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_174858.3(AK5):c.1225G>C (p.Glu409Gln) single nucleotide variant not specified [RCV004168989] Chr1:77518641 [GRCh38]
Chr1:77984326 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_174858.3(AK5):c.751A>G (p.Lys251Glu) single nucleotide variant not specified [RCV004267923] Chr1:77340428 [GRCh38]
Chr1:77806113 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_174858.3(AK5):c.360G>A (p.Glu120=) single nucleotide variant not provided [RCV003406565] Chr1:77293905 [GRCh38]
Chr1:77759590 [GRCh37]
Chr1:1p31.1		 likely benign
NM_174858.3(AK5):c.382A>G (p.Thr128Ala) single nucleotide variant not specified [RCV004396406] Chr1:77293927 [GRCh38]
Chr1:77759612 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_174858.3(AK5):c.227G>A (p.Arg76Gln) single nucleotide variant not specified [RCV004396385] Chr1:77287107 [GRCh38]
Chr1:77752792 [GRCh37]
Chr1:1p31.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2153
Count of miRNA genes:852
Interacting mature miRNAs:976
Transcripts:ENST00000317704, ENST00000344720, ENST00000354567, ENST00000465146, ENST00000466114, ENST00000466393, ENST00000469394, ENST00000478255, ENST00000478407, ENST00000524494, ENST00000527263, ENST00000530826, ENST00000531672
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407116487GWAS765463_Hbody mass index QTL GWAS765463 (human)2e-27body mass indexbody mass index (BMI) (CMO:0000105)17751455077514551Human
406928327GWAS577303_Hcigarettes per day measurement QTL GWAS577303 (human)6e-10cigarettes per day measurement17733601177336012Human
406886342GWAS535318_Hlung adenocarcinoma QTL GWAS535318 (human)3e-10aspartate aminotransferase measurement, serum alanine aminotransferase measurement, low density lipoprotein triglyceride measurement, body fat percentage, high density lipoprotein cholesterol measurement, sex hormone-binding globulin measurementblood high density lipoprotein cholesterol level (CMO:0000052)17750182277501823Human
407308239GWAS957215_HC-reactive protein measurement QTL GWAS957215 (human)1e-09C-reactive protein measurementblood C-reactive protein level (CMO:0003160)17748343877483439Human
406928328GWAS577304_Hcigarettes per day measurement QTL GWAS577304 (human)3e-09cigarettes per day measurement17750043577500436Human
407054281GWAS703257_HCOVID-19 QTL GWAS703257 (human)9e-10COVID-1917748871277488713Human
407233999GWAS882975_Hbody fat percentage QTL GWAS882975 (human)4e-20body fat percentagebody fat percentage (CMO:0000302)17750182277501823Human
406928331GWAS577307_Hcigarettes per day measurement QTL GWAS577307 (human)3e-13cigarettes per day measurement17750884577508846Human
407122249GWAS771225_Hchronotype measurement QTL GWAS771225 (human)2e-23chronotype measurement17730954877309549Human
407104466GWAS753442_Hself reported educational attainment QTL GWAS753442 (human)9e-09self reported educational attainment17746865077468651Human
407234004GWAS882980_Hbody fat percentage QTL GWAS882980 (human)2e-09body fat percentagebody fat percentage (CMO:0000302)17750552077505521Human
407058769GWAS707745_HCOVID-19 QTL GWAS707745 (human)3e-09COVID-1917750182277501823Human
406943957GWAS592933_Hbody mass index QTL GWAS592933 (human)3e-25body mass indexbody mass index (BMI) (CMO:0000105)17747904777479048Human
407004374GWAS653350_Hbody mass index QTL GWAS653350 (human)0.000004body mass indexbody mass index (BMI) (CMO:0000105)17750182277501823Human
406990166GWAS639142_Hcigarettes per day measurement QTL GWAS639142 (human)9e-10cigarettes per day measurement17751541477515415Human
406943956GWAS592932_Hbody mass index QTL GWAS592932 (human)6e-22body mass indexbody mass index (BMI) (CMO:0000105)17733855777338558Human
406923353GWAS572329_Htotal cholesterol measurement QTL GWAS572329 (human)3e-09total cholesterol measurementblood total cholesterol level (CMO:0000051)17754889877548899Human
2292793PRSTS24_HProstate tumor susceptibility QTL 24 (human)Prostate tumor susceptibilitylate onset16853299294532992Human
407227365GWAS876341_Hlung carcinoma QTL GWAS876341 (human)2e-08lung carcinoma17750182277501823Human
407184742GWAS833718_Hlaurylcarnitine measurement QTL GWAS833718 (human)0.0000002laurylcarnitine measurement17731486577314866Human
406969573GWAS618549_Heosinophil percentage of leukocytes QTL GWAS618549 (human)4e-09eosinophil percentage of leukocytesblood eosinophil count to total leukocyte count ratio (CMO:0000369)17735333077353331Human
407092452GWAS741428_Hbody fat percentage QTL GWAS741428 (human)1e-08body fat percentagebody fat percentage (CMO:0000302)17750182277501823Human
407122915GWAS771891_Hcigarettes per day measurement QTL GWAS771891 (human)4e-08cigarettes per day measurement17750879977508800Human
407305455GWAS954431_Hfat body mass QTL GWAS954431 (human)1e-11body fat mass (VT:0010482)total body fat mass (CMO:0000305)17733855777338558Human
407095914GWAS744890_Hbipolar I disorder QTL GWAS744890 (human)0.0000003bipolar I disorder17752423877524239Human
407098088GWAS747064_Hbody mass index QTL GWAS747064 (human)1e-36body mass indexbody mass index (BMI) (CMO:0000105)17750182277501823Human
406990574GWAS639550_Hcigarettes per day measurement QTL GWAS639550 (human)3e-12cigarettes per day measurement17750884577508846Human
407033964GWAS682940_Hmean reticulocyte volume QTL GWAS682940 (human)5e-10reticulocyte morphology trait (VT:0002424)mean corpuscular volume (CMO:0000038)17749917077499171Human
406901103GWAS550079_HCOVID-19 QTL GWAS550079 (human)0.000007COVID-1917730417477304175Human
407002358GWAS651334_Hbody mass index QTL GWAS651334 (human)2e-13body mass indexbody mass index (BMI) (CMO:0000105)17745362577453626Human
406902517GWAS551493_Hlung carcinoma QTL GWAS551493 (human)3e-11lung carcinoma17750182277501823Human
407059956GWAS708932_HC-reactive protein measurement QTL GWAS708932 (human)1e-10diastolic blood pressurediastolic blood pressure (CMO:0000005)17750182277501823Human
407150335GWAS799311_Hnon-small cell lung carcinoma QTL GWAS799311 (human)0.0000009non-small cell lung carcinoma17750182277501823Human
407171577GWAS820553_Hbody fat percentage QTL GWAS820553 (human)6e-26body fat percentagebody fat percentage (CMO:0000302)17750182277501823Human
407055101GWAS704077_Hchronotype measurement QTL GWAS704077 (human)9e-09chronotype measurement17739629077396291Human
406988412GWAS637388_Hurinary albumin to creatinine ratio QTL GWAS637388 (human)3e-08urinary albumin to creatinine ratiourine albumin level to urine creatinine level ratio (CMO:0000384)17747904777479048Human
407286658GWAS935634_Hglomerular filtration rate QTL GWAS935634 (human)2e-19glomerular filtration rateglomerular filtration rate (CMO:0000490)17755748877557489Human
406926854GWAS575830_Hbody height QTL GWAS575830 (human)9e-09body height (VT:0001253)body height (CMO:0000106)17745096277450963Human
407022602GWAS671578_Hbody mass index QTL GWAS671578 (human)2e-16body mass indexbody mass index (BMI) (CMO:0000105)17733855777338558Human
406942729GWAS591705_Hhousehold income QTL GWAS591705 (human)5e-08household income17752423877524239Human
407150477GWAS799453_Htype 2 diabetes mellitus QTL GWAS799453 (human)0.000008type 2 diabetes mellitus17734974077349741Human
406989451GWAS638427_Hreticulocyte measurement QTL GWAS638427 (human)1e-09reticulocyte morphology trait (VT:0002424)red blood cell measurement (CMO:0001356)17750182277501823Human
407271693GWAS920669_Hbody height QTL GWAS920669 (human)6e-12body height (VT:0001253)body height (CMO:0000106)17746145977461460Human
407303949GWAS952925_Hfat body mass QTL GWAS952925 (human)5e-31body fat mass (VT:0010482)total body fat mass (CMO:0000305)17750182277501823Human
407022604GWAS671580_Hbody mass index QTL GWAS671580 (human)2e-16body mass indexbody mass index (BMI) (CMO:0000105)17749858477498585Human
407253897GWAS902873_Hcystatin C measurement QTL GWAS902873 (human)2e-14cystatin C measurementblood cystatin C level (CMO:0002777)17749917077499171Human
407022605GWAS671581_Hbody mass index QTL GWAS671581 (human)9e-09body mass indexbody mass index (BMI) (CMO:0000105)17754281477542815Human
406954643GWAS603619_Hself reported educational attainment QTL GWAS603619 (human)1e-08self reported educational attainment17752423877524239Human
407285781GWAS934757_Hphysical activity measurement QTL GWAS934757 (human)2e-10physical activity measurementvoluntary body movement measurement (CMO:0000954)17750182277501823Human
407062294GWAS711270_Hself reported educational attainment QTL GWAS711270 (human)1e-09self reported educational attainment17748577577485776Human
406987799GWAS636775_Hreticulocyte measurement QTL GWAS636775 (human)1e-12reticulocyte morphology trait (VT:0002424)red blood cell measurement (CMO:0001356)17750182277501823Human
407271696GWAS920672_Hbody height QTL GWAS920672 (human)9e-158body height (VT:0001253)body height (CMO:0000106)17747995077479951Human
407319184GWAS968160_Hglomerular filtration rate QTL GWAS968160 (human)3e-08glomerular filtration rateglomerular filtration rate (CMO:0000490)17755748877557489Human
407009819GWAS658795_Hchronotype measurement QTL GWAS658795 (human)4e-40chronotype measurement17735444277354443Human
406910490GWAS559466_Hbody mass index QTL GWAS559466 (human)6e-10body mass indexbody mass index (BMI) (CMO:0000105)17752327477523275Human
407011870GWAS660846_Hself reported educational attainment QTL GWAS660846 (human)7e-10self reported educational attainment17748577577485776Human
407306139GWAS955115_Hlean body mass QTL GWAS955115 (human)5e-46body lean mass (VT:0010483)total body lean mass (CMO:0003950)17750182277501823Human
407091870GWAS740846_Hbody mass index QTL GWAS740846 (human)3e-29body mass indexbody mass index (BMI) (CMO:0000105)17750183877501839Human
406990621GWAS639597_Halbuminuria QTL GWAS639597 (human)2e-08albuminuria17747904777479048Human
406944034GWAS593010_Hbody mass index QTL GWAS593010 (human)3e-20body mass indexbody mass index (BMI) (CMO:0000105)17749858477498585Human
1578620LDLPS20_HLow density lipoprotein particle size QTL 21 (human)2.040.00046LDL particle size15253110578531105Human
407057191GWAS706167_Hreaction time measurement QTL GWAS706167 (human)0.000003reaction time measurement17752083177520832Human
407241633GWAS890609_Hbody fat percentage QTL GWAS890609 (human)2e-08body fat percentagebody fat percentage (CMO:0000302)17746145977461460Human
407114669GWAS763645_Hself reported educational attainment QTL GWAS763645 (human)6e-09self reported educational attainment17746865077468651Human
407002414GWAS651390_Hbody mass index QTL GWAS651390 (human)5e-08body mass indexbody mass index (BMI) (CMO:0000105)17754281477542815Human
406944044GWAS593020_Hbody mass index QTL GWAS593020 (human)2e-08body mass indexbody mass index (BMI) (CMO:0000105)17754281477542815Human
407305384GWAS954360_Hlean body mass QTL GWAS954360 (human)8e-14body lean mass (VT:0010483)total body lean mass (CMO:0003950)17733855777338558Human
406949039GWAS598015_Hbody mass index QTL GWAS598015 (human)0.000007body mass indexbody mass index (BMI) (CMO:0000105)17747995077479951Human
407072300GWAS721276_Hvisceral adipose tissue measurement QTL GWAS721276 (human)5e-20visceral adipose tissue measurementabdominal fat morphological measurement (CMO:0000311)17750182277501823Human
407119028GWAS768004_Hsexual dimorphism measurement QTL GWAS768004 (human)9e-10sexual dimorphism measurement17750183877501839Human
407193268GWAS842244_Hsmall vessel stroke QTL GWAS842244 (human)0.000009small vessel stroke17752511477525115Human
1578602LDLPS21_HLow density lipoprotein particle size QTL 21 (human)2.050.00037LDL particle size15253110578531105Human
407336117GWAS985093_Heducational attainment QTL GWAS985093 (human)9e-26educational attainment17750182277501823Human
407002416GWAS651392_Hbody mass index QTL GWAS651392 (human)9e-26body mass indexbody mass index (BMI) (CMO:0000105)17750183877501839Human
407183158GWAS832134_Hmemory performance QTL GWAS832134 (human)0.000007memory performance17739129377391294Human
407336116GWAS985092_Heducational attainment QTL GWAS985092 (human)1e-29educational attainment17748577577485776Human
407002417GWAS651393_Hbody mass index QTL GWAS651393 (human)3e-14body mass indexbody mass index (BMI) (CMO:0000105)17752327477523275Human
407336115GWAS985091_Heducational attainment QTL GWAS985091 (human)1e-09educational attainment17737322277373223Human
407336114GWAS985090_Heducational attainment QTL GWAS985090 (human)3e-09educational attainment17729569277295693Human
407300286GWAS949262_Hbody mass index QTL GWAS949262 (human)8e-26body mass indexbody mass index (BMI) (CMO:0000105)17750182277501823Human
2316890GLUCO302_HGlucose level QTL 302 (human)0.005Glucose level16853299294532992Human
2289499BW445_HBody weight QTL 445 (human)2.26Body morphometrywaist to hip ratio16853299294532992Human
407095226GWAS744202_Hglomerular filtration rate QTL GWAS744202 (human)6e-11glomerular filtration rateglomerular filtration rate (CMO:0000490)17755748877557489Human
1578594LDLPS19_HLow density lipoprotein particle size QTL 19 (human)2.560.00009LDL particle size15253110578531105Human
1581539BP75_HBlood pressure QTL 75 (human)2.40.001Blood pressurepulse pressure16853299294532992Human

Markers in Region
D1S499  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37177,789,935 - 77,790,133UniSTSGRCh37
GRCh37177,789,927 - 77,790,058UniSTSGRCh37
Build 36177,562,515 - 77,562,646RGDNCBI36
Celera176,029,501 - 76,029,694UniSTS
Celera176,029,493 - 76,029,619RGD
Cytogenetic Map1p31UniSTS
HuRef175,921,095 - 75,921,221UniSTS
HuRef175,921,103 - 75,921,296UniSTS
Marshfield Genetic Map1104.79UniSTS
Marshfield Genetic Map1104.79RGD
Genethon Genetic Map1107.2UniSTS
Stanford-G3 RH Map13809.0UniSTS
Whitehead-YAC Contig Map1 UniSTS
NCBI RH Map1518.0UniSTS
GeneMap99-G3 RH Map13765.0UniSTS
D1S1862E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37178,001,542 - 78,001,679UniSTSGRCh37
Build 36177,774,130 - 77,774,267RGDNCBI36
Celera176,241,068 - 76,241,205RGD
Cytogenetic Map1p31UniSTS
HuRef176,133,434 - 76,133,571UniSTS
GeneMap99-GB4 RH Map1208.98UniSTS
AL009966  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37177,859,245 - 77,859,395UniSTSGRCh37
Build 36177,631,833 - 77,631,983RGDNCBI36
Celera176,099,104 - 76,099,254RGD
Cytogenetic Map1p31UniSTS
HuRef175,990,598 - 75,990,748UniSTS
RH103803  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37178,025,711 - 78,025,957UniSTSGRCh37
Build 36177,798,299 - 77,798,545RGDNCBI36
Celera176,265,235 - 76,265,481RGD
Cytogenetic Map1p31UniSTS
HuRef176,157,515 - 76,157,761UniSTS
GeneMap99-GB4 RH Map1192.27UniSTS
G60475  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37177,789,794 - 77,790,147UniSTSGRCh37
Build 36177,562,382 - 77,562,735RGDNCBI36
Celera176,029,360 - 76,029,708RGD
Cytogenetic Map1p31UniSTS
TNG Radiation Hybrid Map130279.0UniSTS
TNG Radiation Hybrid Map54328.0UniSTS
TNG Radiation Hybrid Map130266.0UniSTS
AK5_9482  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37178,024,893 - 78,025,690UniSTSGRCh37
Build 36177,797,481 - 77,798,278RGDNCBI36
Celera176,264,417 - 76,265,214RGD
HuRef176,156,701 - 76,157,494UniSTS
AFMA114ZD9  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37177,942,569 - 77,942,831UniSTSGRCh37
Build 36177,715,157 - 77,715,419RGDNCBI36
Celera176,182,108 - 76,182,370RGD
Cytogenetic Map1p31UniSTS
HuRef176,074,337 - 76,074,605UniSTS
Whitehead-YAC Contig Map1 UniSTS
SHGC-53458  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37178,025,748 - 78,025,985UniSTSGRCh37
Build 36177,798,336 - 77,798,573RGDNCBI36
Celera176,265,272 - 76,265,509RGD
Cytogenetic Map1p31UniSTS
HuRef176,157,552 - 76,157,789UniSTS
TNG Radiation Hybrid Map124007.0UniSTS
A004B41  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37178,000,213 - 78,000,328UniSTSGRCh37
Build 36177,772,801 - 77,772,916RGDNCBI36
Celera176,239,739 - 76,239,854RGD
Cytogenetic Map1p31UniSTS
HuRef176,132,105 - 76,132,220UniSTS
GeneMap99-GB4 RH Map1191.86UniSTS
SHGC-75022  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37177,827,926 - 77,828,051UniSTSGRCh37
Build 36177,600,514 - 77,600,639RGDNCBI36
Celera176,067,503 - 76,067,628RGD
Cytogenetic Map1p31UniSTS
HuRef175,959,096 - 75,959,221UniSTS
TNG Radiation Hybrid Map130301.0UniSTS
GeneMap99-GB4 RH Map1192.07UniSTS
GeneMap99-GB4 RH Map1192.38UniSTS
Whitehead-RH Map1217.3UniSTS
SHGC-30349  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37178,025,504 - 78,025,622UniSTSGRCh37
Build 36177,798,092 - 77,798,210RGDNCBI36
Celera176,265,028 - 76,265,146RGD
Cytogenetic Map1p31UniSTS
HuRef176,157,308 - 76,157,426UniSTS
Stanford-G3 RH Map13826.0UniSTS
GeneMap99-GB4 RH Map1229.87UniSTS
GeneMap99-GB4 RH Map1216.42UniSTS
Whitehead-RH Map1220.3UniSTS
NCBI RH Map1518.0UniSTS
GeneMap99-G3 RH Map13782.0UniSTS
D1S2157  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37177,783,423 - 77,783,601UniSTSGRCh37
Build 36177,556,011 - 77,556,189RGDNCBI36
Celera176,022,991 - 76,023,169RGD
Cytogenetic Map1p31UniSTS
HuRef175,914,593 - 75,914,771UniSTS
Whitehead-RH Map1219.2UniSTS
Whitehead-YAC Contig Map1 UniSTS
D1S2456  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37177,857,836 - 77,857,966UniSTSGRCh37
Build 36177,630,424 - 77,630,554RGDNCBI36
Celera176,097,695 - 76,097,825RGD
Cytogenetic Map1p31UniSTS
HuRef175,989,189 - 75,989,319UniSTS
Whitehead-RH Map1222.5UniSTS
Whitehead-YAC Contig Map1 UniSTS
D1S499  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1p31UniSTS
Stanford-G3 RH Map13809.0UniSTS
NCBI RH Map1518.0UniSTS
GeneMap99-G3 RH Map13765.0UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
1204 2342 2778 2222 4950 1588 2145 4 502 1491 342 2264 6572 5984 44 3722 789 1688 1534 166

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_012093 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_174858 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005270739 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006710572 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017001008 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017001009 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017001010 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017001011 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017001012 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047417721 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047417740 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335958 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335959 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335960 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335961 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335962 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335963 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC093433 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC093575 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC095030 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF062595 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF445193 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK090967 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW665223 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY171600 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC012467 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC033896 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC036666 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR541890 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DN993295 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459522 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000317704
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,282,058 - 77,315,060 (+)Ensembl
Ensembl Acc Id: ENST00000344720   ⟹   ENSP00000341430
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,282,602 - 77,559,962 (+)Ensembl
Ensembl Acc Id: ENST00000354567   ⟹   ENSP00000346577
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,282,019 - 77,559,966 (+)Ensembl
Ensembl Acc Id: ENST00000465146
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,340,405 - 77,417,849 (+)Ensembl
Ensembl Acc Id: ENST00000466114
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,293,793 - 77,298,025 (+)Ensembl
Ensembl Acc Id: ENST00000466393
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,540,496 - 77,558,731 (+)Ensembl
Ensembl Acc Id: ENST00000469394
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,293,530 - 77,297,690 (+)Ensembl
Ensembl Acc Id: ENST00000478255   ⟹   ENSP00000433915
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,532,107 - 77,558,731 (+)Ensembl
Ensembl Acc Id: ENST00000478407   ⟹   ENSP00000434409
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,283,079 - 77,297,856 (+)Ensembl
Ensembl Acc Id: ENST00000524494
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,297,855 - 77,340,881 (+)Ensembl
Ensembl Acc Id: ENST00000527263   ⟹   ENSP00000436859
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,417,693 - 77,558,729 (+)Ensembl
Ensembl Acc Id: ENST00000530826
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,371,378 - 77,535,885 (+)Ensembl
Ensembl Acc Id: ENST00000531672
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,557,245 - 77,558,736 (+)Ensembl
RefSeq Acc Id: NM_012093   ⟹   NP_036225
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,283,087 - 77,559,966 (+)NCBI
GRCh37177,747,662 - 78,025,654 (+)ENTREZGENE
Build 36177,520,875 - 77,798,242 (+)NCBI Archive
Celera175,987,128 - 76,265,178 (+)RGD
HuRef175,878,838 - 76,157,458 (+)ENTREZGENE
CHM1_1177,863,659 - 78,141,541 (+)NCBI
T2T-CHM13v2.0177,121,262 - 77,398,823 (+)NCBI
Sequence:
RefSeq Acc Id: NM_174858   ⟹   NP_777283
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,282,019 - 77,559,966 (+)NCBI
GRCh37177,747,662 - 78,025,654 (+)ENTREZGENE
GRCh37177,747,662 - 78,025,654 (+)NCBI
Build 36177,520,330 - 77,798,242 (+)NCBI Archive
Celera175,987,128 - 76,265,178 (+)RGD
HuRef175,878,838 - 76,157,458 (+)ENTREZGENE
CHM1_1177,863,034 - 78,141,541 (+)NCBI
T2T-CHM13v2.0177,120,194 - 77,398,823 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005270739   ⟹   XP_005270796
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,282,019 - 77,559,966 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006710572   ⟹   XP_006710635
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,283,087 - 77,559,966 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017001008   ⟹   XP_016856497
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,283,087 - 77,559,966 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017001012   ⟹   XP_016856501
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,282,019 - 77,504,969 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047417721   ⟹   XP_047273677
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,283,087 - 77,559,966 (+)NCBI
RefSeq Acc Id: XM_047417740   ⟹   XP_047273696
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,282,019 - 77,504,969 (+)NCBI
RefSeq Acc Id: XM_054335958   ⟹   XP_054191933
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0177,120,194 - 77,398,823 (+)NCBI
RefSeq Acc Id: XM_054335959   ⟹   XP_054191934
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0177,121,277 - 77,398,823 (+)NCBI
RefSeq Acc Id: XM_054335960   ⟹   XP_054191935
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0177,121,365 - 77,398,823 (+)NCBI
RefSeq Acc Id: XM_054335961   ⟹   XP_054191936
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0177,121,764 - 77,398,823 (+)NCBI
RefSeq Acc Id: XM_054335962   ⟹   XP_054191937
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0177,120,194 - 77,343,872 (+)NCBI
RefSeq Acc Id: XM_054335963   ⟹   XP_054191938
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0177,120,194 - 77,343,872 (+)NCBI
Protein Sequences
Protein RefSeqs NP_036225 (Get FASTA)   NCBI Sequence Viewer  
  NP_777283 (Get FASTA)   NCBI Sequence Viewer  
  XP_005270796 (Get FASTA)   NCBI Sequence Viewer  
  XP_006710635 (Get FASTA)   NCBI Sequence Viewer  
  XP_016856497 (Get FASTA)   NCBI Sequence Viewer  
  XP_016856501 (Get FASTA)   NCBI Sequence Viewer  
  XP_047273677 (Get FASTA)   NCBI Sequence Viewer  
  XP_047273696 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191933 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191934 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191935 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191936 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191937 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191938 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAD27956 (Get FASTA)   NCBI Sequence Viewer  
  AAH12467 (Get FASTA)   NCBI Sequence Viewer  
  AAH33896 (Get FASTA)   NCBI Sequence Viewer  
  AAH36666 (Get FASTA)   NCBI Sequence Viewer  
  AAO16520 (Get FASTA)   NCBI Sequence Viewer  
  AAP97322 (Get FASTA)   NCBI Sequence Viewer  
  BAC03558 (Get FASTA)   NCBI Sequence Viewer  
  CAG46688 (Get FASTA)   NCBI Sequence Viewer  
  EAX06377 (Get FASTA)   NCBI Sequence Viewer  
  EAX06378 (Get FASTA)   NCBI Sequence Viewer  
  EAX06379 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000341430
  ENSP00000341430.5
  ENSP00000346577
  ENSP00000346577.2
  ENSP00000433915.1
  ENSP00000434409.1
  ENSP00000436859.1
GenBank Protein Q9Y6K8 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_777283   ⟸   NM_174858
- Peptide Label: isoform 1
- UniProtKB: Q8N464 (UniProtKB/Swiss-Prot),   Q86YS0 (UniProtKB/Swiss-Prot),   Q7Z4T5 (UniProtKB/Swiss-Prot),   Q6FH66 (UniProtKB/Swiss-Prot),   Q5U622 (UniProtKB/Swiss-Prot),   Q96EC9 (UniProtKB/Swiss-Prot),   Q9Y6K8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_036225   ⟸   NM_012093
- Peptide Label: isoform 2
- UniProtKB: Q9Y6K8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005270796   ⟸   XM_005270739
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_006710635   ⟸   XM_006710572
- Peptide Label: isoform X2
- UniProtKB: Q9Y6K8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016856501   ⟸   XM_017001012
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016856497   ⟸   XM_017001008
- Peptide Label: isoform X2
- UniProtKB: Q9Y6K8 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000434409   ⟸   ENST00000478407
Ensembl Acc Id: ENSP00000433915   ⟸   ENST00000478255
Ensembl Acc Id: ENSP00000346577   ⟸   ENST00000354567
Ensembl Acc Id: ENSP00000436859   ⟸   ENST00000527263
Ensembl Acc Id: ENSP00000341430   ⟸   ENST00000344720
RefSeq Acc Id: XP_047273696   ⟸   XM_047417740
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047273677   ⟸   XM_047417721
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054191933   ⟸   XM_054335958
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054191937   ⟸   XM_054335962
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054191938   ⟸   XM_054335963
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054191934   ⟸   XM_054335959
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054191935   ⟸   XM_054335960
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054191936   ⟸   XM_054335961
- Peptide Label: isoform X2

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9Y6K8-F1-model_v2 AlphaFold Q9Y6K8 1-562 view protein structure

Promoters
RGD ID:6856000
Promoter ID:EPDNEW_H1136
Type:initiation region
Name:AK5_1
Description:adenylate kinase 5
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H1137  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,282,056 - 77,282,116EPDNEW
RGD ID:6855944
Promoter ID:EPDNEW_H1137
Type:initiation region
Name:AK5_2
Description:adenylate kinase 5
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H1136  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,282,602 - 77,282,662EPDNEW
RGD ID:6784582
Promoter ID:HG_KWN:3321
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell
Transcripts:ENST00000354567,   ENST00000370807,   NM_012093,   OTTHUMT00000092213,   OTTHUMT00000092214
Position:
Human AssemblyChrPosition (strand)Source
Build 36177,519,861 - 77,520,361 (+)MPROMDB
RGD ID:6784585
Promoter ID:HG_KWN:3327
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:OTTHUMT00000096381
Position:
Human AssemblyChrPosition (strand)Source
Build 36177,778,591 - 77,779,091 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:365 AgrOrtholog
COSMIC AK5 COSMIC
Ensembl Genes ENSG00000154027 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000344720 ENTREZGENE
  ENST00000344720.9 UniProtKB/Swiss-Prot
  ENST00000354567 ENTREZGENE
  ENST00000354567.7 UniProtKB/Swiss-Prot
  ENST00000478255.1 UniProtKB/TrEMBL
  ENST00000478407.1 UniProtKB/TrEMBL
  ENST00000527263.1 UniProtKB/TrEMBL
Gene3D-CATH 3.40.50.300 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000154027 GTEx
HGNC ID HGNC:365 ENTREZGENE
Human Proteome Map AK5 Human Proteome Map
InterPro Adenylat/UMP-CMP_kin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Adenylat_kinase_CS UniProtKB/Swiss-Prot
  AK1/5 UniProtKB/Swiss-Prot
  P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:26289 UniProtKB/Swiss-Prot
NCBI Gene 26289 ENTREZGENE
OMIM 608009 OMIM
PANTHER ADENYLATE KINASE ISOENZYME 5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR23359 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam ADK UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA24659 PharmGKB
PRINTS ADENYLTKNASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE ADENYLATE_KINASE UniProtKB/Swiss-Prot
Superfamily-SCOP Dimerization-anchoring domain of cAMP-dependent PK regulatory subunit UniProtKB/Swiss-Prot
  SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt E9PIS7_HUMAN UniProtKB/TrEMBL
  E9PQQ8_HUMAN UniProtKB/TrEMBL
  H0YEZ1_HUMAN UniProtKB/TrEMBL
  KAD5_HUMAN UniProtKB/Swiss-Prot
  Q5U622 ENTREZGENE
  Q6FH66 ENTREZGENE
  Q7Z4T5 ENTREZGENE
  Q86YS0 ENTREZGENE
  Q8N464 ENTREZGENE
  Q96EC9 ENTREZGENE
  Q9Y6K8 ENTREZGENE
UniProt Secondary Q5U622 UniProtKB/Swiss-Prot
  Q6FH66 UniProtKB/Swiss-Prot
  Q7Z4T5 UniProtKB/Swiss-Prot
  Q86YS0 UniProtKB/Swiss-Prot
  Q8N464 UniProtKB/Swiss-Prot
  Q96EC9 UniProtKB/Swiss-Prot