ADCK5 (aarF domain containing kinase 5) - Rat Genome Database

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Gene: ADCK5 (aarF domain containing kinase 5) Homo sapiens
Analyze
Symbol: ADCK5
Name: aarF domain containing kinase 5
RGD ID: 1313570
HGNC Page HGNC
Description: Predicted to have protein serine/threonine kinase activity. Predicted to be involved in protein phosphorylation. Predicted to localize to integral component of membrane; INTERACTS WITH acrylamide; arsane; arsenic atom.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: FLJ35454; MGC126708; uncharacterized aarF domain-containing protein kinase 5
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8144,373,101 - 144,393,242 (+)EnsemblGRCh38hg38GRCh38
GRCh388144,373,762 - 144,393,242 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378145,597,736 - 145,618,457 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368145,568,539 - 145,589,265 (+)NCBINCBI36hg18NCBI36
Build 348145,568,538 - 145,589,259NCBI
Celera8141,773,087 - 141,792,916 (+)NCBI
Cytogenetic Map8q24.3NCBI
HuRef8140,711,531 - 140,731,459 (+)NCBIHuRef
CHM1_18145,636,564 - 145,656,561 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

Additional References at PubMed
PMID:12477932   PMID:14702039   PMID:15489334   PMID:16421571   PMID:20877624   PMID:21988832   PMID:25192599   PMID:25416956   PMID:25814554   PMID:26496610   PMID:27499296   PMID:31515488  
PMID:32277958  


Genomics

Comparative Map Data
ADCK5
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8144,373,101 - 144,393,242 (+)EnsemblGRCh38hg38GRCh38
GRCh388144,373,762 - 144,393,242 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378145,597,736 - 145,618,457 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368145,568,539 - 145,589,265 (+)NCBINCBI36hg18NCBI36
Build 348145,568,538 - 145,589,259NCBI
Celera8141,773,087 - 141,792,916 (+)NCBI
Cytogenetic Map8q24.3NCBI
HuRef8140,711,531 - 140,731,459 (+)NCBIHuRef
CHM1_18145,636,564 - 145,656,561 (+)NCBICHM1_1
Adck5
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391576,460,559 - 76,480,012 (+)NCBIGRCm39mm39
GRCm39 Ensembl1576,460,558 - 76,480,016 (+)Ensembl
GRCm381576,576,359 - 76,595,812 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1576,576,358 - 76,595,816 (+)EnsemblGRCm38mm10GRCm38
MGSCv371576,406,789 - 76,426,242 (+)NCBIGRCm37mm9NCBIm37
MGSCv361576,403,614 - 76,423,063 (+)NCBImm8
Celera1578,069,751 - 78,089,205 (+)NCBICelera
Cytogenetic Map15D3NCBI
Adck5
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.27108,301,623 - 108,319,439 (+)NCBI
Rnor_6.0 Ensembl7117,643,206 - 117,661,845 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.07117,643,976 - 117,661,789 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.07117,631,880 - 117,649,872 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47114,630,171 - 114,647,984 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.17114,664,305 - 114,681,884 (+)NCBI
Celera7104,651,820 - 104,669,644 (+)NCBICelera
Cytogenetic Map7q34NCBI
Adck5
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554543,006,845 - 3,024,426 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554543,006,851 - 3,024,430 (+)NCBIChiLan1.0ChiLan1.0
ADCK5
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.18144,131,167 - 144,149,264 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8144,130,992 - 144,150,133 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v08141,137,617 - 141,158,662 (+)NCBIMhudiblu_PPA_v0panPan3
ADCK5
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11337,800,562 - 37,817,449 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1337,799,956 - 37,818,256 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1337,763,223 - 37,780,120 (+)NCBI
ROS_Cfam_1.01338,276,173 - 38,293,070 (+)NCBI
UMICH_Zoey_3.11337,967,981 - 37,984,877 (+)NCBI
UNSW_CanFamBas_1.01338,076,622 - 38,093,520 (+)NCBI
UU_Cfam_GSD_1.01338,552,999 - 38,569,895 (+)NCBI
Adck5
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303431,185 - 444,124 (-)NCBI
SpeTri2.0NW_0049364707,857,284 - 7,870,180 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ADCK5
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl4393,724 - 410,529 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.14393,720 - 410,582 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.24482,152 - 499,026 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ADCK5
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18138,585,353 - 138,602,759 (+)NCBI
ChlSab1.1 Ensembl8138,585,376 - 138,602,569 (+)Ensembl
Vero_WHO_p1.0NW_0236660391,255,166 - 1,273,364 (-)NCBI
Adck5
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473512,457,860 - 12,473,801 (-)NCBI

Position Markers
RH104428  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378145,618,523 - 145,618,741UniSTSGRCh37
Build 368145,589,331 - 145,589,549RGDNCBI36
Celera8141,792,982 - 141,793,200RGD
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map8q24.23UniSTS
HuRef8140,731,525 - 140,731,743UniSTS
GeneMap99-GB4 RH Map2299.26UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3432
Count of miRNA genes:952
Interacting mature miRNAs:1190
Transcripts:ENST00000308860, ENST00000525136, ENST00000526231, ENST00000526833, ENST00000529654, ENST00000532190, ENST00000533715, ENST00000534714
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.


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 1543 537 1248 228 899 143 1972 462 1541 120 1304 1132 97 446 1160 1
Low 896 2452 478 396 1044 322 2385 1735 2193 299 155 481 78 1 758 1628 5 2
Below cutoff 2 6 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_174922 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006716527 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011516907 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011516909 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011516910 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013174 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002956603 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_928305 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC233992 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF205589 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK092773 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC031570 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC032402 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC064345 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC085013 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC101659 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143322 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143326 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI825038 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM146288 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU845476 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY037845 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000308860   ⟹   ENSP00000310547
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,374,047 - 144,393,242 (+)Ensembl
RefSeq Acc Id: ENST00000525136
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,374,055 - 144,379,421 (+)Ensembl
RefSeq Acc Id: ENST00000526231
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,373,837 - 144,391,710 (+)Ensembl
RefSeq Acc Id: ENST00000526833   ⟹   ENSP00000436484
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,374,076 - 144,391,055 (+)Ensembl
RefSeq Acc Id: ENST00000529654   ⟹   ENSP00000431875
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,374,046 - 144,393,242 (+)Ensembl
RefSeq Acc Id: ENST00000532190
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,374,061 - 144,390,884 (+)Ensembl
RefSeq Acc Id: ENST00000533715   ⟹   ENSP00000473494
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,374,042 - 144,391,276 (+)Ensembl
RefSeq Acc Id: ENST00000534714
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,373,101 - 144,391,064 (+)Ensembl
RefSeq Acc Id: NM_174922   ⟹   NP_777582
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,374,047 - 144,393,242 (+)NCBI
GRCh378145,597,704 - 145,618,457 (+)NCBI
Build 368145,568,539 - 145,589,265 (+)NCBI Archive
Celera8141,773,087 - 141,792,916 (+)RGD
HuRef8140,711,531 - 140,731,459 (+)NCBI
CHM1_18145,636,564 - 145,656,561 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006716527   ⟹   XP_006716590
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,374,020 - 144,393,242 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011516907   ⟹   XP_011515209
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,374,831 - 144,393,242 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011516909   ⟹   XP_011515211
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,377,398 - 144,393,242 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011516910   ⟹   XP_011515212
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,374,061 - 144,393,242 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017013174   ⟹   XP_016868663
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,373,762 - 144,393,242 (+)NCBI
Sequence:
RefSeq Acc Id: XR_002956603
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,374,052 - 144,393,242 (+)NCBI
Sequence:
RefSeq Acc Id: XR_928305
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,374,834 - 144,393,242 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_777582   ⟸   NM_174922
- UniProtKB: Q3MIX3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006716590   ⟸   XM_006716527
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011515212   ⟸   XM_011516910
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011515209   ⟸   XM_011516907
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011515211   ⟸   XM_011516909
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016868663   ⟸   XM_017013174
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: ENSP00000310547   ⟸   ENST00000308860
RefSeq Acc Id: ENSP00000473494   ⟸   ENST00000533715
RefSeq Acc Id: ENSP00000436484   ⟸   ENST00000526833
RefSeq Acc Id: ENSP00000431875   ⟸   ENST00000529654
Protein Domains
Protein kinase

Promoters
RGD ID:7214469
Promoter ID:EPDNEW_H12978
Type:initiation region
Name:ADCK5_1
Description:aarF domain containing kinase 5
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,374,047 - 144,374,107EPDNEW
RGD ID:6806482
Promoter ID:HG_KWN:62336
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_174922,   UC003ZCG.1
Position:
Human AssemblyChrPosition (strand)Source
Build 368145,567,536 - 145,568,607 (+)MPROMDB
RGD ID:6806484
Promoter ID:HG_KWN:62337
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid
Transcripts:UC003ZCI.1
Position:
Human AssemblyChrPosition (strand)Source
Build 368145,586,971 - 145,587,522 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
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 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 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 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 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 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 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
NM_013291.2(CPSF1):c.3767A>G (p.Tyr1256Cys) single nucleotide variant Malignant melanoma [RCV000061767] Chr8:144394278 [GRCh38]
Chr8:145619493 [GRCh37]
Chr8:145590301 [NCBI36]
Chr8:8q24.3
not provided
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(chr8:144264907-144668170)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 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 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 8q24.3(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 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 8q21.3-24.3(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 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 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 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 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 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 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 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 8q21.13-24.3(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 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 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 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
GRCh37/hg19 8q24.3(chr8:145600952-145834119)x3 copy number gain See cases [RCV000203425] Chr8:145600952..145834119 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.3(chr8:145603153-145811230)x3 copy number gain See cases [RCV000239970] Chr8:145603153..145811230 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 copy number gain See cases [RCV000448954] Chr8:98432250..146222672 [GRCh37]
Chr8:8q22.1-24.3
pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:134825277-146280828)x3 copy number gain See cases [RCV000448348] Chr8:134825277..146280828 [GRCh37]
Chr8:8q24.22-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:144779442-146113113)x3 copy number gain See cases [RCV000510396] Chr8:144779442..146113113 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:136378789-146295771)x3 copy number gain See cases [RCV000512003] Chr8:136378789..146295771 [GRCh37]
Chr8:8q24.22-24.3
likely pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:142840194-146280020) copy number gain Intellectual disability [RCV000626547] Chr8:142840194..146280020 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3 copy number gain See cases [RCV000512401] Chr8:114853126..146295771 [GRCh37]
Chr8:8q23.3-24.3
pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:143815037-146295771)x3 copy number gain not provided [RCV000683020] Chr8:143815037..146295771 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:121694649-146295771)x3 copy number gain not provided [RCV000683044] Chr8:121694649..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:145513753-145753161)x3 copy number gain not provided [RCV000748009] Chr8:145513753..145753161 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:145513753-145758635)x3 copy number gain not provided [RCV000748010] Chr8:145513753..145758635 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:145513753-145758661)x3 copy number gain not provided [RCV000748011] Chr8:145513753..145758661 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:145579325-145758635)x3 copy number gain not provided [RCV000748019] Chr8:145579325..145758635 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:145580535-145755918)x3 copy number gain not provided [RCV000748020] Chr8:145580535..145755918 [GRCh37]
Chr8:8q24.3
benign
NC_000008.10:g.(?_144990325)_(145700664_?)dup duplication Brown-Vialetto-Van Laere syndrome 2 [RCV000808636] Chr8:144990325..145700664 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.12-24.3(chr8:122193546-146295771)x3 copy number gain not provided [RCV000849762] Chr8:122193546..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:145603133-145695493)x3 copy number gain not provided [RCV000846119] Chr8:145603133..145695493 [GRCh37]
Chr8:8q24.3
uncertain significance
NC_000008.10:g.(?_144990335)_(145701149_?)dup duplication Epidermolysis bullosa simplex with muscular dystrophy [RCV000823255] Chr8:144990335..145701149 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.22-24.3(chr8:136059859-146295771)x3 copy number gain not provided [RCV000847171] Chr8:136059859..146295771 [GRCh37]
Chr8:8q24.22-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:144190206-146295771)x3 copy number gain not provided [RCV000847854] Chr8:144190206..146295771 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
GRCh37/hg19 8q24.21-24.3(chr8:128877995-146295771)x3 copy number gain not provided [RCV001006146] Chr8:128877995..146295771 [GRCh37]
Chr8:8q24.21-24.3
pathogenic
GRCh37/hg19 8q24.23-24.3(chr8:139188797-146295771)x3 copy number gain not provided [RCV000846814] Chr8:139188797..146295771 [GRCh37]
Chr8:8q24.23-24.3
pathogenic
GRCh37/hg19 8q24.13-24.3(chr8:125496223-146295771)x3 copy number gain not provided [RCV000845705] Chr8:125496223..146295771 [GRCh37]
Chr8:8q24.13-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3 copy number gain not provided [RCV001006140] Chr8:121042467..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:145287199-145705521)x3 copy number gain not provided [RCV001006156] Chr8:145287199..145705521 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.3(chr8:144262042-146295771)x3 copy number gain not provided [RCV001259034] Chr8:144262042..146295771 [GRCh37]
Chr8:8q24.3
likely pathogenic
GRCh37/hg19 8q24.3(chr8:145555125-145779806)x3 copy number gain not provided [RCV001259512] Chr8:145555125..145779806 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.3(chr8:145033244-146297937)x3 copy number gain not provided [RCV001270667] Chr8:145033244..146297937 [GRCh37]
Chr8:8q24.3
uncertain significance
NC_000008.10:g.(?_145047561)_(145701149_?)dup duplication Brown-Vialetto-Van Laere syndrome 2 [RCV001301200] Chr8:145047561..145701149 [GRCh37]
Chr8:8q24.3
uncertain significance
NC_000008.10:g.(?_144990335)_(145701149_?)dup duplication Epidermolysis bullosa simplex with muscular dystrophy [RCV001327821] Chr8:144990335..145701149 [GRCh37]
Chr8:8q24.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:21738 AgrOrtholog
COSMIC ADCK5 COSMIC
Ensembl Genes ENSG00000173137 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000285451 UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000310547 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000431875 UniProtKB/TrEMBL
  ENSP00000436484 UniProtKB/TrEMBL
  ENSP00000473494 UniProtKB/TrEMBL
  ENSP00000494807 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000308860 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000526833 UniProtKB/TrEMBL
  ENST00000529654 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000533715 UniProtKB/TrEMBL
  ENST00000645968 UniProtKB/Swiss-Prot
GTEx ENSG00000173137 GTEx
  ENSG00000285451 GTEx
HGNC ID HGNC:21738 ENTREZGENE
Human Proteome Map ADCK5 Human Proteome Map
InterPro Kinase-like_dom_sf UniProtKB/Swiss-Prot
  UbiB_dom UniProtKB/Swiss-Prot
KEGG Report hsa:203054 UniProtKB/Swiss-Prot
NCBI Gene 203054 ENTREZGENE
Pfam ABC1 UniProtKB/Swiss-Prot
PharmGKB PA134963849 PharmGKB
Superfamily-SCOP SSF56112 UniProtKB/Swiss-Prot
UniProt ADCK5_HUMAN UniProtKB/Swiss-Prot
  E9PJ20_HUMAN UniProtKB/TrEMBL
  E9PLF3_HUMAN UniProtKB/TrEMBL
  Q3MIX3 ENTREZGENE
  R4GN53_HUMAN UniProtKB/TrEMBL
UniProt Secondary B3KS46 UniProtKB/Swiss-Prot
  Q5U4P1 UniProtKB/Swiss-Prot
  Q6P2S4 UniProtKB/Swiss-Prot
  Q8N5V3 UniProtKB/Swiss-Prot