ANKRD46 (ankyrin repeat domain 46) - Rat Genome Database

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Gene: ANKRD46 (ankyrin repeat domain 46) Homo sapiens
Analyze
Symbol: ANKRD46
Name: ankyrin repeat domain 46
RGD ID: 1606443
HGNC Page HGNC
Description: Predicted to localize to integral component of membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ANK-S; ankyrin repeat domain-containing protein 46; ankyrin repeat small protein; GENX-115279
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 Ensembl8100,509,752 - 100,559,784 (-)EnsemblGRCh38hg38GRCh38
GRCh388100,509,752 - 100,559,759 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378101,521,980 - 101,571,987 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368101,602,176 - 101,641,188 (-)NCBINCBI36hg18NCBI36
Celera897,718,378 - 97,757,379 (-)NCBI
Cytogenetic Map8q22.3NCBI
HuRef896,721,557 - 96,771,579 (-)NCBIHuRef
CHM1_18101,562,856 - 101,612,900 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

Additional References at PubMed
PMID:8619474   PMID:9110174   PMID:11297942   PMID:12477932   PMID:14702039   PMID:15152081   PMID:15489334   PMID:16344560   PMID:17176038   PMID:19322201   PMID:21041692   PMID:21219636  
PMID:22559327   PMID:23414517   PMID:26186194   PMID:28514442   PMID:28986522   PMID:31056421   PMID:32296183  


Genomics

Comparative Map Data
ANKRD46
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8100,509,752 - 100,559,784 (-)EnsemblGRCh38hg38GRCh38
GRCh388100,509,752 - 100,559,759 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378101,521,980 - 101,571,987 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368101,602,176 - 101,641,188 (-)NCBINCBI36hg18NCBI36
Celera897,718,378 - 97,757,379 (-)NCBI
Cytogenetic Map8q22.3NCBI
HuRef896,721,557 - 96,771,579 (-)NCBIHuRef
CHM1_18101,562,856 - 101,612,900 (-)NCBICHM1_1
Ankrd46
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391536,477,814 - 36,496,937 (-)NCBIGRCm39mm39
GRCm39 Ensembl1536,477,814 - 36,496,966 (-)Ensembl
GRCm381536,477,668 - 36,496,791 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1536,477,668 - 36,496,820 (-)EnsemblGRCm38mm10GRCm38
MGSCv371536,407,423 - 36,426,546 (-)NCBIGRCm37mm9NCBIm37
MGSCv361536,422,257 - 36,441,340 (-)NCBImm8
Celera1537,105,451 - 37,124,628 (-)NCBICelera
Cytogenetic Map15B3.1NCBI
Ankrd46
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2767,647,202 - 67,668,180 (-)NCBI
Rnor_6.0 Ensembl775,279,446 - 75,288,365 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0775,279,443 - 75,300,442 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0775,427,579 - 75,448,564 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4771,986,088 - 72,007,057 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1772,006,817 - 72,027,776 (-)NCBI
Celera764,727,370 - 64,748,339 (-)NCBICelera
Cytogenetic Map7q22NCBI
Ankrd46
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495541715,740,108 - 15,750,627 (-)NCBIChiLan1.0ChiLan1.0
ANKRD46
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1899,322,923 - 99,376,251 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl899,322,930 - 99,376,251 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0897,151,126 - 97,203,196 (-)NCBIMhudiblu_PPA_v0panPan3
ANKRD46
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1132,384,007 - 2,415,187 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl132,385,611 - 2,498,364 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha132,381,125 - 2,412,315 (-)NCBI
ROS_Cfam_1.0132,537,108 - 2,568,299 (-)NCBI
UMICH_Zoey_3.1132,381,669 - 2,412,884 (-)NCBI
UNSW_CanFamBas_1.0132,493,322 - 2,524,543 (-)NCBI
UU_Cfam_GSD_1.0132,510,688 - 2,541,879 (-)NCBI
Ankrd46
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530335,329,657 - 35,356,371 (+)NCBI
SpeTri2.0NW_00493647042,755,799 - 42,782,479 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ANKRD46
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl436,303,502 - 36,444,335 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1436,400,610 - 36,445,590 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2439,323,164 - 39,368,112 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ANKRD46
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1895,369,941 - 95,412,737 (-)NCBI
ChlSab1.1 Ensembl895,369,901 - 95,412,688 (-)Ensembl
Ankrd46
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247637,416,669 - 7,445,418 (-)NCBI

Position Markers
D8S2126  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378101,533,069 - 101,533,236UniSTSGRCh37
Build 368101,602,245 - 101,602,412RGDNCBI36
Celera897,718,447 - 97,718,614RGD
Cytogenetic Map8q22.2UniSTS
HuRef896,732,655 - 96,732,822UniSTS
RH93372  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378101,533,225 - 101,533,384UniSTSGRCh37
Build 368101,602,401 - 101,602,560RGDNCBI36
Celera897,718,603 - 97,718,762RGD
Cytogenetic Map8q22.2UniSTS
HuRef896,732,811 - 96,732,970UniSTS
GeneMap99-GB4 RH Map8439.01UniSTS
A005E22  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378101,562,776 - 101,562,919UniSTSGRCh37
Build 368101,631,952 - 101,632,095RGDNCBI36
Celera897,748,143 - 97,748,286RGD
Cytogenetic Map8q22.2UniSTS
HuRef896,762,357 - 96,762,500UniSTS
GeneMap99-GB4 RH Map8438.39UniSTS
Whitehead-RH Map8584.3UniSTS
NCBI RH Map81079.9UniSTS
HSCZOG032  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378101,562,841 - 101,563,044UniSTSGRCh37
GRCh371120,004,541 - 120,004,753UniSTSGRCh37
Build 361119,806,064 - 119,806,276RGDNCBI36
Celera1118,235,301 - 118,235,513RGD
Celera897,748,208 - 97,748,411UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map8q22.2UniSTS
HuRef1117,863,036 - 117,863,248UniSTS
HuRef896,762,422 - 96,762,625UniSTS
GeneMap99-GB4 RH Map8445.68UniSTS
Whitehead-RH Map8576.2UniSTS
NCBI RH Map81096.5UniSTS
RH15880  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378101,533,985 - 101,534,091UniSTSGRCh37
Build 368101,603,161 - 101,603,267RGDNCBI36
Celera897,719,363 - 97,719,469RGD
Cytogenetic Map8q22.2UniSTS
HuRef896,733,571 - 96,733,677UniSTS
GeneMap99-GB4 RH Map8439.71UniSTS
NCBI RH Map8980.5UniSTS
G20396  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378101,533,107 - 101,533,276UniSTSGRCh37
Build 368101,602,283 - 101,602,452RGDNCBI36
Celera897,718,485 - 97,718,654RGD
Cytogenetic Map8q22.2UniSTS
HuRef896,732,693 - 96,732,862UniSTS
A005P20  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378101,533,107 - 101,533,276UniSTSGRCh37
Build 368101,602,283 - 101,602,452RGDNCBI36
Celera897,718,485 - 97,718,654RGD
Cytogenetic Map8q22.2UniSTS
HuRef896,732,693 - 96,732,862UniSTS
GeneMap99-GB4 RH Map8439.42UniSTS
NCBI RH Map81106.7UniSTS
ANKRD46  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378101,541,794 - 101,541,958UniSTSGRCh37
Celera897,727,159 - 97,727,323UniSTS
HuRef896,741,374 - 96,741,538UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR21hsa-miR-21-5pOncomiRDBexternal_infoNANA21219636

Predicted Target Of
Summary Value
Count of predictions:2856
Count of miRNA genes:893
Interacting mature miRNAs:1030
Transcripts:ENST00000335659, ENST00000358990, ENST00000519316, ENST00000519597, ENST00000520311, ENST00000520552, ENST00000520713, ENST00000521345, ENST00000523000, ENST00000524072, ENST00000524319
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 385 447 889 147 523 143 1446 637 2595 196 588 644 11 1 286 1091 3 2
Low 2054 2223 837 477 1108 322 2911 1559 1139 222 872 969 164 918 1697 3
Below cutoff 321 320 1 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000335659   ⟹   ENSP00000335287
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8100,520,772 - 100,559,759 (-)Ensembl
RefSeq Acc Id: ENST00000358990   ⟹   ENSP00000351881
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8100,522,657 - 100,559,759 (-)Ensembl
RefSeq Acc Id: ENST00000519316   ⟹   ENSP00000430827
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8100,522,514 - 100,533,325 (-)Ensembl
RefSeq Acc Id: ENST00000519597   ⟹   ENSP00000430056
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8100,520,772 - 100,559,784 (-)Ensembl
RefSeq Acc Id: ENST00000520311   ⟹   ENSP00000428388
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8100,520,776 - 100,559,711 (-)Ensembl
RefSeq Acc Id: ENST00000520552   ⟹   ENSP00000429015
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8100,509,752 - 100,559,742 (-)Ensembl
RefSeq Acc Id: ENST00000520713
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8100,550,528 - 100,556,854 (-)Ensembl
RefSeq Acc Id: ENST00000521345   ⟹   ENSP00000429647
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8100,529,587 - 100,559,746 (-)Ensembl
RefSeq Acc Id: ENST00000523000   ⟹   ENSP00000430800
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8100,529,577 - 100,559,751 (-)Ensembl
RefSeq Acc Id: ENST00000524072   ⟹   ENSP00000430357
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8100,529,525 - 100,559,526 (-)Ensembl
RefSeq Acc Id: ENST00000524319
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8100,550,528 - 100,559,643 (-)Ensembl
RefSeq Acc Id: NM_001270377   ⟹   NP_001257306
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388100,520,772 - 100,559,759 (-)NCBI
GRCh378101,521,980 - 101,572,014 (-)NCBI
HuRef896,721,557 - 96,771,579 (-)NCBI
CHM1_18101,573,888 - 101,612,900 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001270378   ⟹   NP_001257307
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388100,520,772 - 100,559,759 (-)NCBI
GRCh378101,521,980 - 101,572,014 (-)NCBI
HuRef896,721,557 - 96,771,579 (-)NCBI
CHM1_18101,573,888 - 101,612,825 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001270379   ⟹   NP_001257308
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388100,509,752 - 100,559,759 (-)NCBI
GRCh378101,521,980 - 101,572,014 (-)NCBI
HuRef896,721,557 - 96,771,579 (-)NCBI
CHM1_18101,562,856 - 101,612,900 (-)NCBI
Sequence:
RefSeq Acc Id: NM_198401   ⟹   NP_940683
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388100,520,772 - 100,559,759 (-)NCBI
GRCh378101,521,980 - 101,572,014 (-)NCBI
Build 368101,602,176 - 101,641,188 (-)NCBI Archive
Celera897,718,378 - 97,757,379 (-)RGD
HuRef896,721,557 - 96,771,579 (-)NCBI
CHM1_18101,573,888 - 101,612,900 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_940683   ⟸   NM_198401
- Peptide Label: isoform 1
- UniProtKB: Q86W74 (UniProtKB/Swiss-Prot),   A0A024R9E1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001257308   ⟸   NM_001270379
- Peptide Label: isoform 2
- UniProtKB: Q86W74 (UniProtKB/Swiss-Prot),   A0A024R9G2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001257306   ⟸   NM_001270377
- Peptide Label: isoform 1
- UniProtKB: Q86W74 (UniProtKB/Swiss-Prot),   A0A024R9E1 (UniProtKB/TrEMBL),   B3KT99 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001257307   ⟸   NM_001270378
- Peptide Label: isoform 1
- UniProtKB: Q86W74 (UniProtKB/Swiss-Prot),   A0A024R9E1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000430827   ⟸   ENST00000519316
RefSeq Acc Id: ENSP00000430056   ⟸   ENST00000519597
RefSeq Acc Id: ENSP00000335287   ⟸   ENST00000335659
RefSeq Acc Id: ENSP00000428388   ⟸   ENST00000520311
RefSeq Acc Id: ENSP00000429015   ⟸   ENST00000520552
RefSeq Acc Id: ENSP00000429647   ⟸   ENST00000521345
RefSeq Acc Id: ENSP00000430800   ⟸   ENST00000523000
RefSeq Acc Id: ENSP00000430357   ⟸   ENST00000524072
RefSeq Acc Id: ENSP00000351881   ⟸   ENST00000358990
Protein Domains
ANK_REP_REGION

Promoters
RGD ID:7213897
Promoter ID:EPDNEW_H12694
Type:initiation region
Name:ANKRD46_1
Description:ankyrin repeat domain 46
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
GRCh388100,559,759 - 100,559,819EPDNEW
RGD ID:6806495
Promoter ID:HG_KWN:61808
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   K562,   Lymphoblastoid
Transcripts:NM_198401,   UC003YJM.2,   UC003YJN.1,   UC003YJP.1
Position:
Human AssemblyChrPosition (strand)Source
Build 368101,640,876 - 101,641,376 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8q22.2-22.3(chr8:100023254-101190270)x3 copy number gain See cases [RCV000050759] Chr8:100023254..101190270 [GRCh38]
Chr8:101035482..102202498 [GRCh37]
Chr8:101104658..102271674 [NCBI36]
Chr8:8q22.2-22.3
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 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 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
NM_198401.3(ANKRD46):c.121C>T (p.Arg41Cys) single nucleotide variant Malignant melanoma [RCV000068050] Chr8:100529713 [GRCh38]
Chr8:101541941 [GRCh37]
Chr8:101611117 [NCBI36]
Chr8:8q22.3
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 8q21.3-24.23(chr8:86300584-137022587)x3 copy number gain See cases [RCV000135621] Chr8:86300584..137022587 [GRCh38]
Chr8:87312813..138034830 [GRCh37]
Chr8:87381929..138104012 [NCBI36]
Chr8:8q21.3-24.23
pathogenic|likely pathogenic
GRCh38/hg38 8q22.2-22.3(chr8:99580206-101547228)x1 copy number loss See cases [RCV000137322] Chr8:99580206..101547228 [GRCh38]
Chr8:100592434..102559456 [GRCh37]
Chr8:100661610..102628632 [NCBI36]
Chr8:8q22.2-22.3
likely 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 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3
pathogenic
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 8q22.2-23.1(chr8:100179408-106524667)x1 copy number loss See cases [RCV000141697] Chr8:100179408..106524667 [GRCh38]
Chr8:101191636..107536895 [GRCh37]
Chr8:101260812..107606071 [NCBI36]
Chr8:8q22.2-23.1
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 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 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 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
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 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 8q21.3-24.3(chr8:93047482-141355635)x3 copy number gain See cases [RCV000511761] Chr8:93047482..141355635 [GRCh37]
Chr8:8q21.3-24.3
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 8q21.2-24.3(chr8:86841228-142689874)x3 copy number gain See cases [RCV000510854] Chr8:86841228..142689874 [GRCh37]
Chr8:8q21.2-24.3
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 8q21.2-23.3(chr8:86841154-116518125)x3 copy number gain not provided [RCV000683045] Chr8:86841154..116518125 [GRCh37]
Chr8:8q21.2-23.3
pathogenic
GRCh37/hg19 8q22.2-22.3(chr8:100551211-103676738)x1 copy number loss not provided [RCV000683023] Chr8:100551211..103676738 [GRCh37]
Chr8:8q22.2-22.3
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 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
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

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:27229 AgrOrtholog
COSMIC ANKRD46 COSMIC
Ensembl Genes ENSG00000186106 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000335287 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000351881 UniProtKB/TrEMBL
  ENSP00000428388 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000429015 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000429647 UniProtKB/TrEMBL
  ENSP00000430056 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000430357 UniProtKB/TrEMBL
  ENSP00000430800 UniProtKB/TrEMBL
  ENSP00000430827 UniProtKB/TrEMBL
Ensembl Transcript ENST00000335659 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000358990 UniProtKB/TrEMBL
  ENST00000519316 UniProtKB/TrEMBL
  ENST00000519597 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000520311 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000520552 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000521345 UniProtKB/TrEMBL
  ENST00000523000 UniProtKB/TrEMBL
  ENST00000524072 UniProtKB/TrEMBL
Gene3D-CATH 1.25.40.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000186106 GTEx
HGNC ID HGNC:27229 ENTREZGENE
Human Proteome Map ANKRD46 Human Proteome Map
InterPro Ankyrin_rpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ankyrin_rpt-contain_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ankyrin_rpt-contain_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:157567 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 157567 ENTREZGENE
Pfam Ank_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA142672613 PharmGKB
PRINTS ANKYRIN UniProtKB/TrEMBL
PROSITE ANK_REP_REGION UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ANK_REPEAT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART ANK UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48403 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024R9E1 ENTREZGENE, UniProtKB/TrEMBL
  A0A024R9G2 ENTREZGENE, UniProtKB/TrEMBL
  ANR46_HUMAN UniProtKB/Swiss-Prot
  B3KT99 ENTREZGENE, UniProtKB/TrEMBL
  E5RFM7_HUMAN UniProtKB/TrEMBL
  E5RHV2_HUMAN UniProtKB/TrEMBL
  E5RI04_HUMAN UniProtKB/TrEMBL
  E5RI20_HUMAN UniProtKB/TrEMBL
  J3KP26_HUMAN UniProtKB/TrEMBL
  Q86W74 ENTREZGENE
UniProt Secondary Q6P9B7 UniProtKB/Swiss-Prot