AKAP11 (A-kinase anchoring protein 11) - Rat Genome Database

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Gene: AKAP11 (A-kinase anchoring protein 11) Homo sapiens
Analyze
Symbol: AKAP11
Name: A-kinase anchoring protein 11
RGD ID: 736276
HGNC Page HGNC:369
Description: Predicted to enable kinase regulator activity and protein kinase A binding activity. Predicted to be involved in protein localization. Predicted to act upstream of or within cortical actin cytoskeleton organization; protein localization to endosome; and renal water homeostasis. Located in cytosol; nucleolus; and plasma membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: A kinase (PRKA) anchor protein 11; a kinase anchor protein 220 kDa; A-kinase anchor protein 11; A-kinase anchor protein 220 kDa; A-kinase anchoring protein, 220kDa; AKAP-11; AKAP220; DKFZp781I12161; FLJ11304; hAKAP220; KIAA0629; PPP1R44; PRKA11; protein kinase A anchoring protein 11; protein kinase A-anchoring protein 11; protein phosphatase 1, regulatory subunit 44
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
GRCh381342,271,477 - 42,323,261 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1342,272,152 - 42,323,261 (+)EnsemblGRCh38hg38GRCh38
GRCh371342,846,288 - 42,897,397 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361341,744,289 - 41,795,402 (+)NCBINCBI36Build 36hg18NCBI36
Build 341341,744,288 - 41,782,992NCBI
Celera1323,903,720 - 23,954,839 (+)NCBICelera
Cytogenetic Map13q14.11NCBI
HuRef1323,649,570 - 23,700,689 (+)NCBIHuRef
CHM1_11342,813,753 - 42,864,863 (+)NCBICHM1_1
T2T-CHM13v2.01341,491,099 - 41,543,005 (+)NCBIT2T-CHM13v2.0
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

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. A-kinase anchoring proteins: from protein complexes to physiology and disease. Carnegie GK, etal., IUBMB Life. 2009 Apr;61(4):394-406.
2. AKAP11 gene polymorphism is associated with bone mass measured by quantitative ultrasound in young adults. Correa-Rodríguez M, etal., Int J Med Sci. 2018 Jun 14;15(10):999-1004. doi: 10.7150/ijms.25369. eCollection 2018.
3. Alteration of AKAP220, an upstream component of the Rb pathway, in oral carcinogenesis. Garnis C, etal., Int J Cancer. 2005 Sep 20;116(5):813-9. doi: 10.1002/ijc.21065.
4. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
5. Cloning and characterization of a novel A-kinase anchoring protein. AKAP 220, association with testicular peroxisomes. Lester LB, etal., J Biol Chem 1996 Apr 19;271(16):9460-5.
6. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
7. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
8. Localized effects of cAMP mediated by distinct routes of protein kinase A. Tasken K and Aandahl EM, Physiol Rev. 2004 Jan;84(1):137-67.
9. GABAC-receptor stimulation activates cAMP-dependent protein kinase via A-kinase anchoring protein 220. Yang L, etal., J Pharmacol Sci. 2008 Apr;106(4):578-84. Epub 2008 Apr 3.
Additional References at PubMed
PMID:9238861   PMID:9734811   PMID:10209101   PMID:10737800   PMID:10864471   PMID:11152471   PMID:11807172   PMID:11823486   PMID:12147701   PMID:12168954   PMID:12672969   PMID:14702039  
PMID:15057823   PMID:16344560   PMID:17353931   PMID:18029348   PMID:19801982   PMID:21145461   PMID:21873635   PMID:21890631   PMID:22504420   PMID:23402259   PMID:23455922   PMID:23602568  
PMID:23667531   PMID:24249740   PMID:25188285   PMID:26088133   PMID:26186194   PMID:26496610   PMID:26638075   PMID:26972000   PMID:27484798   PMID:28380382   PMID:28514442   PMID:29467281  
PMID:29507755   PMID:29568061   PMID:29778605   PMID:29872149   PMID:30021884   PMID:30274258   PMID:30773093   PMID:30824926   PMID:31006538   PMID:31586073   PMID:31932471   PMID:31980649  
PMID:32529326   PMID:32707033   PMID:32814053   PMID:32877691   PMID:33785595   PMID:33957083   PMID:33961781   PMID:34011540   PMID:34079125   PMID:34432599   PMID:35216969   PMID:35256949  
PMID:35271311   PMID:35410376   PMID:35563538   PMID:36168628   PMID:36215168   PMID:36736316   PMID:36779422   PMID:36931259   PMID:38113892  


Genomics

Comparative Map Data
AKAP11
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381342,271,477 - 42,323,261 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1342,272,152 - 42,323,261 (+)EnsemblGRCh38hg38GRCh38
GRCh371342,846,288 - 42,897,397 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361341,744,289 - 41,795,402 (+)NCBINCBI36Build 36hg18NCBI36
Build 341341,744,288 - 41,782,992NCBI
Celera1323,903,720 - 23,954,839 (+)NCBICelera
Cytogenetic Map13q14.11NCBI
HuRef1323,649,570 - 23,700,689 (+)NCBIHuRef
CHM1_11342,813,753 - 42,864,863 (+)NCBICHM1_1
T2T-CHM13v2.01341,491,099 - 41,543,005 (+)NCBIT2T-CHM13v2.0
Akap11
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391478,729,686 - 78,774,306 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1478,729,686 - 78,774,248 (-)EnsemblGRCm39 Ensembl
GRCm381478,492,246 - 78,536,980 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1478,492,246 - 78,536,808 (-)EnsemblGRCm38mm10GRCm38
MGSCv371478,892,053 - 78,936,667 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361477,226,401 - 77,253,274 (-)NCBIMGSCv36mm8
Celera1476,008,096 - 76,052,775 (-)NCBICelera
Cytogenetic Map14D3NCBI
cM Map1441.46NCBI
Akap11
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81560,320,839 - 60,365,480 (-)NCBIGRCr8
mRatBN7.21553,911,635 - 53,956,138 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1553,911,657 - 53,941,605 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1558,044,930 - 58,089,415 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01559,163,315 - 59,207,800 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01555,988,186 - 56,032,676 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01560,722,138 - 60,766,673 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1560,722,160 - 60,766,579 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01564,390,111 - 64,434,755 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41559,649,461 - 59,679,551 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11559,667,851 - 59,686,848 (-)NCBI
Celera1553,502,729 - 53,532,469 (-)NCBICelera
Cytogenetic Map15q11NCBI
Akap11
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555184,032,448 - 4,083,697 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555184,032,738 - 4,083,720 (-)NCBIChiLan1.0ChiLan1.0
AKAP11
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21441,765,525 - 41,820,436 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11332,869,144 - 32,924,088 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01323,453,478 - 23,505,317 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
AKAP11
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1228,462,058 - 8,509,660 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl228,465,797 - 8,509,955 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha228,454,180 - 8,502,984 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0228,684,334 - 8,733,152 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl228,687,219 - 8,732,517 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1228,378,640 - 8,427,434 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0228,429,251 - 8,478,037 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0228,440,950 - 8,489,748 (-)NCBIUU_Cfam_GSD_1.0
Akap11
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404945152,547,325 - 152,594,570 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049367471,482,114 - 1,526,485 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049367471,479,241 - 1,526,915 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
AKAP11
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1124,704,881 - 24,752,244 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11124,702,157 - 24,752,410 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21125,404,617 - 25,429,539 (-)NCBISscrofa10.2Sscrofa10.2susScr3
AKAP11
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1320,447,394 - 20,498,604 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl320,462,176 - 20,494,670 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605723,710,925 - 23,762,673 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Akap11
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474812,770,056 - 12,812,976 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474812,769,698 - 12,820,815 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in AKAP11
93 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3 copy number gain See cases [RCV000050293] Chr13:31363472..90575292 [GRCh38]
Chr13:31937609..91227546 [GRCh37]
Chr13:30835609..90025547 [NCBI36]
Chr13:13q12.3-31.3
pathogenic
GRCh38/hg38 13q12.3-21.33(chr13:30697728-69471973)x1 copy number loss See cases [RCV000051373] Chr13:30697728..69471973 [GRCh38]
Chr13:31271865..70046105 [GRCh37]
Chr13:30169865..68944106 [NCBI36]
Chr13:13q12.3-21.33
pathogenic
GRCh38/hg38 13q13.3-14.2(chr13:38558617-47502862)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051377]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051377]|See cases [RCV000051377] Chr13:38558617..47502862 [GRCh38]
Chr13:39132754..48076997 [GRCh37]
Chr13:38030754..46974998 [NCBI36]
Chr13:13q13.3-14.2
pathogenic
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 copy number gain See cases [RCV000053731] Chr13:19837395..114327173 [GRCh38]
Chr13:20411535..115085141 [GRCh37]
Chr13:19309535..114110750 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh38/hg38 13q12.3-31.1(chr13:30318913-83610426)x3 copy number gain See cases [RCV000053737] Chr13:30318913..83610426 [GRCh38]
Chr13:30893050..84184561 [GRCh37]
Chr13:29791050..83082562 [NCBI36]
Chr13:13q12.3-31.1
pathogenic
GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3 copy number gain See cases [RCV000053719] Chr13:18565048..114327173 [GRCh38]
Chr13:19139188..115085141 [GRCh37]
Chr13:18037188..114110750 [NCBI36]
Chr13:13q11-34
pathogenic
GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3 copy number gain See cases [RCV000053723] Chr13:18850545..114327173 [GRCh38]
Chr13:19296527..115085141 [GRCh37]
Chr13:18194527..114110750 [NCBI36]
Chr13:13q11-34
pathogenic
GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3 copy number gain See cases [RCV000053726] Chr13:18946182..114304628 [GRCh38]
Chr13:19520322..115070103 [GRCh37]
Chr13:18418322..114088205 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3 copy number gain See cases [RCV000053759] Chr13:33528097..114327173 [GRCh38]
Chr13:34102234..115085141 [GRCh37]
Chr13:33000234..114110750 [NCBI36]
Chr13:13q13.2-34
pathogenic
GRCh38/hg38 13q14.11(chr13:40799505-44006174)x3 copy number gain See cases [RCV000053761] Chr13:40799505..44006174 [GRCh38]
Chr13:41373641..44580310 [GRCh37]
Chr13:40271641..43478310 [NCBI36]
Chr13:13q14.11
pathogenic
NM_016248.3(AKAP11):c.1628C>T (p.Ser543Phe) single nucleotide variant Malignant melanoma [RCV000070368] Chr13:42300374 [GRCh38]
Chr13:42874510 [GRCh37]
Chr13:41772510 [NCBI36]
Chr13:13q14.11
not provided
NM_016248.3(AKAP11):c.-100+614A>G single nucleotide variant Lung cancer [RCV000097911] Chr13:42272842 [GRCh38]
Chr13:42846978 [GRCh37]
Chr13:13q14.11
uncertain significance
GRCh38/hg38 13q13.3-21.31(chr13:36777318-62955876)x1 copy number loss See cases [RCV000133696] Chr13:36777318..62955876 [GRCh38]
Chr13:37351455..63530009 [GRCh37]
Chr13:36249455..62428010 [NCBI36]
Chr13:13q13.3-21.31
pathogenic
GRCh38/hg38 13q14.11-31.1(chr13:41288493-85137552)x3 copy number gain See cases [RCV000133944] Chr13:41288493..85137552 [GRCh38]
Chr13:41862629..85711687 [GRCh37]
Chr13:40760629..84609688 [NCBI36]
Chr13:13q14.11-31.1
pathogenic
GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3 copy number gain See cases [RCV000134104] Chr13:19833130..114298614 [GRCh38]
Chr13:20407270..115064089 [GRCh37]
Chr13:19305270..114082191 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1 copy number loss See cases [RCV000135610] Chr13:18445862..114327173 [GRCh38]
Chr13:19020001..115085141 [GRCh37]
Chr13:10098739..114110750 [NCBI36]
Chr13:13q11-34
pathogenic
GRCh38/hg38 13q14.11-31.1(chr13:41143820-85137552)x1 copy number loss See cases [RCV000136526] Chr13:41143820..85137552 [GRCh38]
Chr13:41717956..85711687 [GRCh37]
Chr13:40615956..84609688 [NCBI36]
Chr13:13q14.11-31.1
pathogenic
GRCh38/hg38 13q14.11-34(chr13:40942298-114340331)x1 copy number loss See cases [RCV000137893] Chr13:40942298..114340331 [GRCh38]
Chr13:41516434..115085141 [GRCh37]
Chr13:40414434..114123908 [NCBI36]
Chr13:13q14.11-34
pathogenic
GRCh38/hg38 13q12.3-14.2(chr13:31018160-48491204)x1 copy number loss See cases [RCV000138723] Chr13:31018160..48491204 [GRCh38]
Chr13:31592297..49065340 [GRCh37]
Chr13:30490297..47963341 [NCBI36]
Chr13:13q12.3-14.2
pathogenic
GRCh38/hg38 13q13.1-31.1(chr13:32531486-86757044)x3 copy number gain See cases [RCV000138339] Chr13:32531486..86757044 [GRCh38]
Chr13:33105623..87409299 [GRCh37]
Chr13:32003623..86207300 [NCBI36]
Chr13:13q13.1-31.1
pathogenic
GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3 copy number gain See cases [RCV000139078] Chr13:19833130..114327106 [GRCh38]
Chr13:20407270..115085141 [GRCh37]
Chr13:19305270..114110683 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3 copy number gain See cases [RCV000140004] Chr13:18456040..114340285 [GRCh38]
Chr13:19030180..115105760 [GRCh37]
Chr13:17928180..114123862 [NCBI36]
Chr13:13q11-34
pathogenic
GRCh38/hg38 13q13.3-21.32(chr13:37864226-67963788)x1 copy number loss See cases [RCV000140744] Chr13:37864226..67963788 [GRCh38]
Chr13:38438363..68537920 [GRCh37]
Chr13:37336363..67435921 [NCBI36]
Chr13:13q13.3-21.32
pathogenic
GRCh38/hg38 13q14.11(chr13:39860568-43580405)x3 copy number gain See cases [RCV000142892] Chr13:39860568..43580405 [GRCh38]
Chr13:40434705..44154541 [GRCh37]
Chr13:39332705..43052541 [NCBI36]
Chr13:13q14.11
uncertain significance
GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3 copy number gain See cases [RCV000142924] Chr13:19671934..114340331 [GRCh38]
Chr13:20246074..115085141 [GRCh37]
Chr13:19144074..114123908 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3 copy number gain See cases [RCV000143462] Chr13:18862146..114342258 [GRCh38]
Chr13:19436286..115107733 [GRCh37]
Chr13:18334286..114125835 [NCBI36]
Chr13:13q11-34
pathogenic
GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3 copy number gain See cases [RCV000148244] Chr13:31363472..90575292 [GRCh38]
Chr13:31937609..91227546 [GRCh37]
Chr13:30835609..90025547 [NCBI36]
Chr13:13q12.3-31.3
pathogenic
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 copy number gain See cases [RCV000148126] Chr13:19837395..114327173 [GRCh38]
Chr13:20411535..115085141 [GRCh37]
Chr13:19309535..114110750 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3 copy number gain See cases [RCV000240150] Chr13:19571503..115092569 [GRCh37]
Chr13:13q12.11-34
pathogenic
GRCh37/hg19 13q12.11-34(chr13:19571503-115092510) copy number gain See cases [RCV000449142] Chr13:19571503..115092510 [GRCh37]
Chr13:13q12.11-34
pathogenic
GRCh37/hg19 13q14.11-31.3(chr13:42457841-91796698)x1 copy number loss See cases [RCV000446747] Chr13:42457841..91796698 [GRCh37]
Chr13:13q14.11-31.3
pathogenic
GRCh37/hg19 13q13.1-21.31(chr13:32946120-62698217)x1 copy number loss See cases [RCV000446067] Chr13:32946120..62698217 [GRCh37]
Chr13:13q13.1-21.31
pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain See cases [RCV000445886] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q11-34(chr13:19436287-115107733) copy number gain See cases [RCV000510405] Chr13:19436287..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q11-34(chr13:19436287-115107733)x3 copy number gain See cases [RCV000511880] Chr13:19436287..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
NM_016248.4(AKAP11):c.4952C>G (p.Ala1651Gly) single nucleotide variant Inborn genetic diseases [RCV003257902] Chr13:42303698 [GRCh38]
Chr13:42877834 [GRCh37]
Chr13:13q14.11
uncertain significance
NM_016248.4(AKAP11):c.1300C>T (p.Pro434Ser) single nucleotide variant Inborn genetic diseases [RCV003276988] Chr13:42300046 [GRCh38]
Chr13:42874182 [GRCh37]
Chr13:13q14.11
uncertain significance
NM_016248.4(AKAP11):c.4525A>C (p.Lys1509Gln) single nucleotide variant Inborn genetic diseases [RCV003290411] Chr13:42303271 [GRCh38]
Chr13:42877407 [GRCh37]
Chr13:13q14.11
uncertain significance
NM_016248.4(AKAP11):c.3499A>T (p.Met1167Leu) single nucleotide variant Inborn genetic diseases [RCV003304212] Chr13:42302245 [GRCh38]
Chr13:42876381 [GRCh37]
Chr13:13q14.11
uncertain significance
NM_016248.4(AKAP11):c.4007C>T (p.Pro1336Leu) single nucleotide variant Inborn genetic diseases [RCV003282927] Chr13:42302753 [GRCh38]
Chr13:42876889 [GRCh37]
Chr13:13q14.11
uncertain significance
NM_016248.4(AKAP11):c.1193C>T (p.Pro398Leu) single nucleotide variant Inborn genetic diseases [RCV003268842] Chr13:42299939 [GRCh38]
Chr13:42874075 [GRCh37]
Chr13:13q14.11
uncertain significance
GRCh37/hg19 13q11-22.1(chr13:19436286-74045459)x3 copy number gain not provided [RCV000683572] Chr13:19436286..74045459 [GRCh37]
Chr13:13q11-22.1
pathogenic
GRCh37/hg19 13q11-34(chr13:19058717-115103529)x3 copy number gain not provided [RCV000738115] Chr13:19058717..115103529 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q11-34(chr13:19031237-115107157)x3 copy number gain not provided [RCV000750643] Chr13:19031237..115107157 [GRCh37]
Chr13:13q11-34
pathogenic
NM_016248.4(AKAP11):c.314A>G (p.Asn105Ser) single nucleotide variant not provided [RCV000880655] Chr13:42297145 [GRCh38]
Chr13:42871281 [GRCh37]
Chr13:13q14.11
benign
NM_016248.4(AKAP11):c.4375A>G (p.Thr1459Ala) single nucleotide variant not provided [RCV000880657] Chr13:42303121 [GRCh38]
Chr13:42877257 [GRCh37]
Chr13:13q14.11
benign
NM_016248.4(AKAP11):c.5344C>G (p.Pro1782Ala) single nucleotide variant not provided [RCV000973507] Chr13:42313117 [GRCh38]
Chr13:42887253 [GRCh37]
Chr13:13q14.11
benign
NM_016248.4(AKAP11):c.1808G>A (p.Arg603His) single nucleotide variant not provided [RCV000880656] Chr13:42300554 [GRCh38]
Chr13:42874690 [GRCh37]
Chr13:13q14.11
benign
NM_016248.4(AKAP11):c.1828C>T (p.Arg610Cys) single nucleotide variant not provided [RCV000947523] Chr13:42300574 [GRCh38]
Chr13:42874710 [GRCh37]
Chr13:13q14.11
benign
NM_016248.4(AKAP11):c.4876C>T (p.Arg1626Cys) single nucleotide variant not provided [RCV000947524] Chr13:42303622 [GRCh38]
Chr13:42877758 [GRCh37]
Chr13:13q14.11
benign
NM_016248.4(AKAP11):c.2705A>G (p.Glu902Gly) single nucleotide variant not provided [RCV000960280] Chr13:42301451 [GRCh38]
Chr13:42875587 [GRCh37]
Chr13:13q14.11
benign
NM_016248.4(AKAP11):c.3221C>T (p.Ser1074Phe) single nucleotide variant not provided [RCV000964335] Chr13:42301967 [GRCh38]
Chr13:42876103 [GRCh37]
Chr13:13q14.11
benign
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain not provided [RCV000849129] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
NM_016248.4(AKAP11):c.3209A>G (p.His1070Arg) single nucleotide variant not provided [RCV000955479] Chr13:42301955 [GRCh38]
Chr13:42876091 [GRCh37]
Chr13:13q14.11
benign
NM_016248.4(AKAP11):c.3951G>A (p.Pro1317=) single nucleotide variant not provided [RCV001171671] Chr13:42302697 [GRCh38]
Chr13:42876833 [GRCh37]
Chr13:13q14.11
likely benign
GRCh37/hg19 13p13-q34(chr13:1-115169878) copy number gain Complete trisomy 13 syndrome [RCV002280659] Chr13:1..115169878 [GRCh37]
Chr13:13p13-q34
pathogenic
GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3 copy number gain See cases [RCV001353184] Chr13:19053605..115108528 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13p13-q34(chr13:1-115169878)x3 copy number gain See cases [RCV001780076] Chr13:1..115169878 [GRCh37]
Chr13:13p13-q34
pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain not provided [RCV001834436] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q14.11-33.3(chr13:42504540-108206269)x3 copy number gain not provided [RCV001829235] Chr13:42504540..108206269 [GRCh37]
Chr13:13q14.11-33.3
pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-114981726) copy number gain not specified [RCV002053035] Chr13:19436286..114981726 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q14.11-31.3(chr13:42457841-91796698) copy number loss not specified [RCV002053057] Chr13:42457841..91796698 [GRCh37]
Chr13:13q14.11-31.3
pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733) copy number gain not specified [RCV002053036] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q13.3-14.11(chr13:39428367-43608103) copy number loss not specified [RCV002053053] Chr13:39428367..43608103 [GRCh37]
Chr13:13q13.3-14.11
uncertain significance
GRCh37/hg19 13q13.1-21.31(chr13:32946120-62698217) copy number loss not specified [RCV002053048] Chr13:32946120..62698217 [GRCh37]
Chr13:13q13.1-21.31
pathogenic
GRCh37/hg19 13q13.3-31.1(chr13:36376204-80681753) copy number loss not specified [RCV002053052] Chr13:36376204..80681753 [GRCh37]
Chr13:13q13.3-31.1
pathogenic
NC_000013.10:g.(?_41367363)_(43181054_?)dup duplication not provided [RCV003113315] Chr13:41367363..43181054 [GRCh37]
Chr13:13q14.11
uncertain significance
NM_016248.4(AKAP11):c.4432G>A (p.Val1478Ile) single nucleotide variant Inborn genetic diseases [RCV003254240] Chr13:42303178 [GRCh38]
Chr13:42877314 [GRCh37]
Chr13:13q14.11
uncertain significance
GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3 copy number gain not provided [RCV002291540] Chr13:19253848..115108937 [GRCh37]
Chr13:13q11-34
pathogenic
NM_016248.4(AKAP11):c.4951G>T (p.Ala1651Ser) single nucleotide variant Inborn genetic diseases [RCV003257901] Chr13:42303697 [GRCh38]
Chr13:42877833 [GRCh37]
Chr13:13q14.11
uncertain significance
NM_016248.4(AKAP11):c.1446T>G (p.Asp482Glu) single nucleotide variant Inborn genetic diseases [RCV002773058] Chr13:42300192 [GRCh38]
Chr13:42874328 [GRCh37]
Chr13:13q14.11
uncertain significance
NM_016248.4(AKAP11):c.3582G>T (p.Lys1194Asn) single nucleotide variant Inborn genetic diseases [RCV002992444] Chr13:42302328 [GRCh38]
Chr13:42876464 [GRCh37]
Chr13:13q14.11
uncertain significance
NM_016248.4(AKAP11):c.1999T>C (p.Tyr667His) single nucleotide variant Inborn genetic diseases [RCV002728452] Chr13:42300745 [GRCh38]
Chr13:42874881 [GRCh37]
Chr13:13q14.11
uncertain significance
NM_016248.4(AKAP11):c.4713C>A (p.Asp1571Glu) single nucleotide variant Inborn genetic diseases [RCV002733429] Chr13:42303459 [GRCh38]
Chr13:42877595 [GRCh37]
Chr13:13q14.11
uncertain significance
NM_016248.4(AKAP11):c.3307T>A (p.Ser1103Thr) single nucleotide variant Inborn genetic diseases [RCV002779852] Chr13:42302053 [GRCh38]
Chr13:42876189 [GRCh37]
Chr13:13q14.11
uncertain significance
NM_016248.4(AKAP11):c.2852T>C (p.Ile951Thr) single nucleotide variant Inborn genetic diseases [RCV002884150] Chr13:42301598 [GRCh38]
Chr13:42875734 [GRCh37]
Chr13:13q14.11
uncertain significance
NM_016248.4(AKAP11):c.4666C>G (p.Leu1556Val) single nucleotide variant Inborn genetic diseases [RCV002859196] Chr13:42303412 [GRCh38]
Chr13:42877548 [GRCh37]
Chr13:13q14.11
uncertain significance
NM_016248.4(AKAP11):c.3632C>G (p.Thr1211Ser) single nucleotide variant Inborn genetic diseases [RCV002774623] Chr13:42302378 [GRCh38]
Chr13:42876514 [GRCh37]
Chr13:13q14.11
uncertain significance
NM_016248.4(AKAP11):c.4535A>G (p.Gln1512Arg) single nucleotide variant Inborn genetic diseases [RCV002684117] Chr13:42303281 [GRCh38]
Chr13:42877417 [GRCh37]
Chr13:13q14.11
uncertain significance
NM_016248.4(AKAP11):c.2707C>T (p.Arg903Cys) single nucleotide variant Inborn genetic diseases [RCV002685182] Chr13:42301453 [GRCh38]
Chr13:42875589 [GRCh37]
Chr13:13q14.11
uncertain significance
NM_016248.4(AKAP11):c.1807C>T (p.Arg603Cys) single nucleotide variant Inborn genetic diseases [RCV002861127] Chr13:42300553 [GRCh38]
Chr13:42874689 [GRCh37]
Chr13:13q14.11
likely benign
NM_016248.4(AKAP11):c.1529A>G (p.Asn510Ser) single nucleotide variant Inborn genetic diseases [RCV002836643] Chr13:42300275 [GRCh38]
Chr13:42874411 [GRCh37]
Chr13:13q14.11
uncertain significance
NM_016248.4(AKAP11):c.667G>T (p.Val223Phe) single nucleotide variant Inborn genetic diseases [RCV002970344] Chr13:42299413 [GRCh38]
Chr13:42873549 [GRCh37]
Chr13:13q14.11
uncertain significance
NM_016248.4(AKAP11):c.4837G>C (p.Ala1613Pro) single nucleotide variant Inborn genetic diseases [RCV002841748] Chr13:42303583 [GRCh38]
Chr13:42877719 [GRCh37]
Chr13:13q14.11
uncertain significance
NM_016248.4(AKAP11):c.4917G>T (p.Gln1639His) single nucleotide variant Inborn genetic diseases [RCV002682653] Chr13:42303663 [GRCh38]
Chr13:42877799 [GRCh37]
Chr13:13q14.11
uncertain significance
NM_016248.4(AKAP11):c.4243A>G (p.Lys1415Glu) single nucleotide variant Inborn genetic diseases [RCV002777281] Chr13:42302989 [GRCh38]
Chr13:42877125 [GRCh37]
Chr13:13q14.11
uncertain significance
NM_016248.4(AKAP11):c.3861G>C (p.Lys1287Asn) single nucleotide variant Inborn genetic diseases [RCV002777738] Chr13:42302607 [GRCh38]
Chr13:42876743 [GRCh37]
Chr13:13q14.11
uncertain significance
NM_016248.4(AKAP11):c.5251A>G (p.Ser1751Gly) single nucleotide variant Inborn genetic diseases [RCV002798560] Chr13:42308587 [GRCh38]
Chr13:42882723 [GRCh37]
Chr13:13q14.11
uncertain significance
NM_016248.4(AKAP11):c.13A>G (p.Arg5Gly) single nucleotide variant Inborn genetic diseases [RCV002822249] Chr13:42286361 [GRCh38]
Chr13:42860497 [GRCh37]
Chr13:13q14.11
uncertain significance
NM_016248.4(AKAP11):c.2477G>C (p.Arg826Thr) single nucleotide variant Inborn genetic diseases [RCV002849146] Chr13:42301223 [GRCh38]
Chr13:42875359 [GRCh37]
Chr13:13q14.11
uncertain significance
NM_016248.4(AKAP11):c.2002C>T (p.Pro668Ser) single nucleotide variant Inborn genetic diseases [RCV002705000] Chr13:42300748 [GRCh38]
Chr13:42874884 [GRCh37]
Chr13:13q14.11
uncertain significance
NM_016248.4(AKAP11):c.2574A>C (p.Glu858Asp) single nucleotide variant Inborn genetic diseases [RCV002910998] Chr13:42301320 [GRCh38]
Chr13:42875456 [GRCh37]
Chr13:13q14.11
uncertain significance
NM_016248.4(AKAP11):c.2156G>A (p.Ser719Asn) single nucleotide variant Inborn genetic diseases [RCV002926123] Chr13:42300902 [GRCh38]
Chr13:42875038 [GRCh37]
Chr13:13q14.11
uncertain significance
NM_016248.4(AKAP11):c.1219G>T (p.Ala407Ser) single nucleotide variant Inborn genetic diseases [RCV002641371] Chr13:42299965 [GRCh38]
Chr13:42874101 [GRCh37]
Chr13:13q14.11
uncertain significance
NM_016248.4(AKAP11):c.2186G>A (p.Ser729Asn) single nucleotide variant Inborn genetic diseases [RCV002873229] Chr13:42300932 [GRCh38]
Chr13:42875068 [GRCh37]
Chr13:13q14.11
uncertain significance
NM_016248.4(AKAP11):c.3916A>G (p.Ile1306Val) single nucleotide variant Inborn genetic diseases [RCV002743796] Chr13:42302662 [GRCh38]
Chr13:42876798 [GRCh37]
Chr13:13q14.11
likely benign
NM_016248.4(AKAP11):c.2494T>A (p.Cys832Ser) single nucleotide variant Inborn genetic diseases [RCV002787375] Chr13:42301240 [GRCh38]
Chr13:42875376 [GRCh37]
Chr13:13q14.11
uncertain significance
NM_016248.4(AKAP11):c.5032G>A (p.Gly1678Arg) single nucleotide variant Inborn genetic diseases [RCV002789665] Chr13:42303778 [GRCh38]
Chr13:42877914 [GRCh37]
Chr13:13q14.11
uncertain significance
NM_016248.4(AKAP11):c.1403G>A (p.Cys468Tyr) single nucleotide variant Inborn genetic diseases [RCV002788037] Chr13:42300149 [GRCh38]
Chr13:42874285 [GRCh37]
Chr13:13q14.11
uncertain significance
NM_016248.4(AKAP11):c.2165C>T (p.Thr722Met) single nucleotide variant Inborn genetic diseases [RCV002804873] Chr13:42300911 [GRCh38]
Chr13:42875047 [GRCh37]
Chr13:13q14.11
uncertain significance
NM_016248.4(AKAP11):c.2288A>G (p.Glu763Gly) single nucleotide variant Inborn genetic diseases [RCV002640851] Chr13:42301034 [GRCh38]
Chr13:42875170 [GRCh37]
Chr13:13q14.11
uncertain significance
NM_016248.4(AKAP11):c.3494A>G (p.Lys1165Arg) single nucleotide variant Inborn genetic diseases [RCV002743276] Chr13:42302240 [GRCh38]
Chr13:42876376 [GRCh37]
Chr13:13q14.11
uncertain significance
NM_016248.4(AKAP11):c.1624A>G (p.Lys542Glu) single nucleotide variant Inborn genetic diseases [RCV002892756] Chr13:42300370 [GRCh38]
Chr13:42874506 [GRCh37]
Chr13:13q14.11
uncertain significance
NM_016248.4(AKAP11):c.826T>C (p.Trp276Arg) single nucleotide variant Inborn genetic diseases [RCV002764813] Chr13:42299572 [GRCh38]
Chr13:42873708 [GRCh37]
Chr13:13q14.11
uncertain significance
NM_016248.4(AKAP11):c.5462C>T (p.Thr1821Met) single nucleotide variant Inborn genetic diseases [RCV003004059] Chr13:42317585 [GRCh38]
Chr13:42891721 [GRCh37]
Chr13:13q14.11
uncertain significance
NM_016248.4(AKAP11):c.5252G>A (p.Ser1751Asn) single nucleotide variant Inborn genetic diseases [RCV002673321] Chr13:42308588 [GRCh38]
Chr13:42882724 [GRCh37]
Chr13:13q14.11
uncertain significance
NM_016248.4(AKAP11):c.2332A>G (p.Thr778Ala) single nucleotide variant Inborn genetic diseases [RCV002792629] Chr13:42301078 [GRCh38]
Chr13:42875214 [GRCh37]
Chr13:13q14.11
uncertain significance
NM_016248.4(AKAP11):c.3784G>T (p.Asp1262Tyr) single nucleotide variant Inborn genetic diseases [RCV002989396] Chr13:42302530 [GRCh38]
Chr13:42876666 [GRCh37]
Chr13:13q14.11
uncertain significance
NM_016248.4(AKAP11):c.5159G>C (p.Ser1720Thr) single nucleotide variant Inborn genetic diseases [RCV002672735] Chr13:42308495 [GRCh38]
Chr13:42882631 [GRCh37]
Chr13:13q14.11
uncertain significance
NM_016248.4(AKAP11):c.4424C>T (p.Ala1475Val) single nucleotide variant Inborn genetic diseases [RCV002807724] Chr13:42303170 [GRCh38]
Chr13:42877306 [GRCh37]
Chr13:13q14.11
uncertain significance
NM_016248.4(AKAP11):c.2486A>C (p.Lys829Thr) single nucleotide variant Inborn genetic diseases [RCV002793159] Chr13:42301232 [GRCh38]
Chr13:42875368 [GRCh37]
Chr13:13q14.11
uncertain significance
NM_016248.4(AKAP11):c.1186A>G (p.Met396Val) single nucleotide variant Inborn genetic diseases [RCV002747912] Chr13:42299932 [GRCh38]
Chr13:42874068 [GRCh37]
Chr13:13q14.11
uncertain significance
NM_016248.4(AKAP11):c.2360G>T (p.Ser787Ile) single nucleotide variant Inborn genetic diseases [RCV002747913] Chr13:42301106 [GRCh38]
Chr13:42875242 [GRCh37]
Chr13:13q14.11
uncertain significance
NM_016248.4(AKAP11):c.3998A>G (p.Tyr1333Cys) single nucleotide variant Inborn genetic diseases [RCV002680015] Chr13:42302744 [GRCh38]
Chr13:42876880 [GRCh37]
Chr13:13q14.11
uncertain significance
NM_016248.4(AKAP11):c.2663T>C (p.Leu888Ser) single nucleotide variant Inborn genetic diseases [RCV002724689] Chr13:42301409 [GRCh38]
Chr13:42875545 [GRCh37]
Chr13:13q14.11
uncertain significance
NM_016248.4(AKAP11):c.4922A>T (p.His1641Leu) single nucleotide variant Inborn genetic diseases [RCV003220304] Chr13:42303668 [GRCh38]
Chr13:42877804 [GRCh37]
Chr13:13q14.11
uncertain significance
NM_016248.4(AKAP11):c.5020G>A (p.Asp1674Asn) single nucleotide variant Inborn genetic diseases [RCV003179399] Chr13:42303766 [GRCh38]
Chr13:42877902 [GRCh37]
Chr13:13q14.11
uncertain significance
NM_016248.4(AKAP11):c.1727G>A (p.Cys576Tyr) single nucleotide variant Inborn genetic diseases [RCV003205931] Chr13:42300473 [GRCh38]
Chr13:42874609 [GRCh37]
Chr13:13q14.11
uncertain significance
NM_016248.4(AKAP11):c.4185G>A (p.Met1395Ile) single nucleotide variant Inborn genetic diseases [RCV003184562] Chr13:42302931 [GRCh38]
Chr13:42877067 [GRCh37]
Chr13:13q14.11
uncertain significance
NM_016248.4(AKAP11):c.2894C>T (p.Ala965Val) single nucleotide variant Inborn genetic diseases [RCV003211447] Chr13:42301640 [GRCh38]
Chr13:42875776 [GRCh37]
Chr13:13q14.11
likely benign
NM_016248.4(AKAP11):c.1585A>C (p.Lys529Gln) single nucleotide variant Inborn genetic diseases [RCV003200216] Chr13:42300331 [GRCh38]
Chr13:42874467 [GRCh37]
Chr13:13q14.11
uncertain significance
NM_016248.4(AKAP11):c.1106T>C (p.Leu369Ser) single nucleotide variant Inborn genetic diseases [RCV003211499] Chr13:42299852 [GRCh38]
Chr13:42873988 [GRCh37]
Chr13:13q14.11
uncertain significance
NM_016248.4(AKAP11):c.4090A>G (p.Met1364Val) single nucleotide variant Inborn genetic diseases [RCV003199598] Chr13:42302836 [GRCh38]
Chr13:42876972 [GRCh37]
Chr13:13q14.11
uncertain significance
NM_016248.4(AKAP11):c.2821C>T (p.Arg941Trp) single nucleotide variant Inborn genetic diseases [RCV003172762] Chr13:42301567 [GRCh38]
Chr13:42875703 [GRCh37]
Chr13:13q14.11
uncertain significance
NM_016248.4(AKAP11):c.4175A>G (p.Asn1392Ser) single nucleotide variant Inborn genetic diseases [RCV003210737] Chr13:42302921 [GRCh38]
Chr13:42877057 [GRCh37]
Chr13:13q14.11
likely benign
NM_016248.4(AKAP11):c.2648T>A (p.Ile883Lys) single nucleotide variant Inborn genetic diseases [RCV003212491] Chr13:42301394 [GRCh38]
Chr13:42875530 [GRCh37]
Chr13:13q14.11
uncertain significance
NM_016248.4(AKAP11):c.3323C>T (p.Pro1108Leu) single nucleotide variant Inborn genetic diseases [RCV003173308] Chr13:42302069 [GRCh38]
Chr13:42876205 [GRCh37]
Chr13:13q14.11
uncertain significance
NM_016248.4(AKAP11):c.1921A>C (p.Asn641His) single nucleotide variant Inborn genetic diseases [RCV003263339] Chr13:42300667 [GRCh38]
Chr13:42874803 [GRCh37]
Chr13:13q14.11
uncertain significance
NM_016248.4(AKAP11):c.497T>C (p.Leu166Pro) single nucleotide variant Inborn genetic diseases [RCV003304518] Chr13:42298678 [GRCh38]
Chr13:42872814 [GRCh37]
Chr13:13q14.11
uncertain significance
NM_016248.4(AKAP11):c.2836A>G (p.Ile946Val) single nucleotide variant Inborn genetic diseases [RCV003359249] Chr13:42301582 [GRCh38]
Chr13:42875718 [GRCh37]
Chr13:13q14.11
uncertain significance
NM_016248.4(AKAP11):c.1274G>T (p.Gly425Val) single nucleotide variant Inborn genetic diseases [RCV003376155] Chr13:42300020 [GRCh38]
Chr13:42874156 [GRCh37]
Chr13:13q14.11
uncertain significance
NM_016248.4(AKAP11):c.2788G>A (p.Glu930Lys) single nucleotide variant Inborn genetic diseases [RCV003377383] Chr13:42301534 [GRCh38]
Chr13:42875670 [GRCh37]
Chr13:13q14.11
uncertain significance
NM_016248.4(AKAP11):c.773A>G (p.His258Arg) single nucleotide variant Inborn genetic diseases [RCV003365037] Chr13:42299519 [GRCh38]
Chr13:42873655 [GRCh37]
Chr13:13q14.11
uncertain significance
NM_016248.4(AKAP11):c.1733A>G (p.Asn578Ser) single nucleotide variant Inborn genetic diseases [RCV003351172] Chr13:42300479 [GRCh38]
Chr13:42874615 [GRCh37]
Chr13:13q14.11
uncertain significance
NM_016248.4(AKAP11):c.3767_3769del (p.Leu1256del) deletion not provided [RCV003393297] Chr13:42302511..42302513 [GRCh38]
Chr13:42876647..42876649 [GRCh37]
Chr13:13q14.11
likely benign
GRCh37/hg19 13q13.2-14.11(chr13:35060982-44540846)x1 copy number loss not specified [RCV003987035] Chr13:35060982..44540846 [GRCh37]
Chr13:13q13.2-14.11
uncertain significance
GRCh37/hg19 13q13.2-21.1(chr13:35015723-59553519)x3 copy number gain not specified [RCV003987040] Chr13:35015723..59553519 [GRCh37]
Chr13:13q13.2-21.1
pathogenic
NM_016248.4(AKAP11):c.2708G>A (p.Arg903His) single nucleotide variant AKAP11-related condition [RCV003951565] Chr13:42301454 [GRCh38]
Chr13:42875590 [GRCh37]
Chr13:13q14.11
likely benign
NM_016248.4(AKAP11):c.3953T>G (p.Phe1318Cys) single nucleotide variant AKAP11-related condition [RCV003951515] Chr13:42302699 [GRCh38]
Chr13:42876835 [GRCh37]
Chr13:13q14.11
likely benign
GRCh37/hg19 13q13.2-21.2(chr13:34884647-61309742)x1 copy number loss not provided [RCV003885457] Chr13:34884647..61309742 [GRCh37]
Chr13:13q13.2-21.2
pathogenic
NM_016248.4(AKAP11):c.406C>G (p.Leu136Val) single nucleotide variant Inborn genetic diseases [RCV003352560] Chr13:42298587 [GRCh38]
Chr13:42872723 [GRCh37]
Chr13:13q14.11
uncertain significance
GRCh38/hg38 13q12.3-21.32(chr13:31553608-65470367)x3 copy number gain See cases [RCV000135808] Chr13:31553608..65470367 [GRCh38]
Chr13:32127745..66044499 [GRCh37]
Chr13:31025745..64942500 [NCBI36]
Chr13:13q12.3-21.32
pathogenic
GRCh38/hg38 13q13.3-14.3(chr13:38514177-51425214)x1 copy number loss See cases [RCV000140788] Chr13:38514177..51425214 [GRCh38]
Chr13:39088314..51999350 [GRCh37]
Chr13:37986314..50897351 [NCBI36]
Chr13:13q13.3-14.3
pathogenic
NM_016248.4(AKAP11):c.2389A>G (p.Thr797Ala) single nucleotide variant Inborn genetic diseases [RCV003256185] Chr13:42301135 [GRCh38]
Chr13:42875271 [GRCh37]
Chr13:13q14.11
uncertain significance
NM_016248.4(AKAP11):c.5363G>C (p.Gly1788Ala) single nucleotide variant Inborn genetic diseases [RCV003272806] Chr13:42313899 [GRCh38]
Chr13:42888035 [GRCh37]
Chr13:13q14.11
uncertain significance
NM_016248.4(AKAP11):c.4604A>G (p.Asn1535Ser) single nucleotide variant Inborn genetic diseases [RCV003297431] Chr13:42303350 [GRCh38]
Chr13:42877486 [GRCh37]
Chr13:13q14.11
uncertain significance
NM_016248.4(AKAP11):c.5371G>T (p.Asp1791Tyr) single nucleotide variant Inborn genetic diseases [RCV003357835] Chr13:42313907 [GRCh38]
Chr13:42888043 [GRCh37]
Chr13:13q14.11
uncertain significance
NM_016248.4(AKAP11):c.5213A>G (p.Asn1738Ser) single nucleotide variant Inborn genetic diseases [RCV003343292] Chr13:42308549 [GRCh38]
Chr13:42882685 [GRCh37]
Chr13:13q14.11
uncertain significance
NM_016248.4(AKAP11):c.5311G>A (p.Glu1771Lys) single nucleotide variant Inborn genetic diseases [RCV003348271] Chr13:42313084 [GRCh38]
Chr13:42887220 [GRCh37]
Chr13:13q14.11
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1591
Count of miRNA genes:801
Interacting mature miRNAs:960
Transcripts:ENST00000025301
Prediction methods: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.

Markers in Region
STS-H70800  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371342,895,577 - 42,895,704UniSTSGRCh37
Build 361341,793,577 - 41,793,704RGDNCBI36
Celera1323,953,014 - 23,953,141RGD
Cytogenetic Map13q14.11UniSTS
HuRef1323,698,863 - 23,698,990UniSTS
GeneMap99-GB4 RH Map13135.19UniSTS
RH92944  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371342,893,270 - 42,893,409UniSTSGRCh37
Build 361341,791,270 - 41,791,409RGDNCBI36
Celera1323,950,693 - 23,950,832RGD
Cytogenetic Map13q14.11UniSTS
HuRef1323,696,544 - 23,696,683UniSTS
GeneMap99-GB4 RH Map13135.29UniSTS
STS-Z40816  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371342,897,267 - 42,897,351UniSTSGRCh37
Build 361341,795,267 - 41,795,351RGDNCBI36
Celera1323,954,704 - 23,954,788RGD
Cytogenetic Map13q14.11UniSTS
HuRef1323,700,553 - 23,700,637UniSTS
GeneMap99-GB4 RH Map13148.71UniSTS
NCBI RH Map13335.5UniSTS
D16S325  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map17q21.2-q21.3UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map1p13.1UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map10q11.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map3q13.32UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map6q25.2-q25.3UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map3q26.31UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map2p13-p12UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map8q21.13UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map4q34.3UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map9p24.1-p23UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map10pter-q25.3UniSTS
Cytogenetic Map6q25.2-q27UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map1p36.3-p34.3UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map5q22UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map19qterUniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map19q13.4UniSTS
D8S2279  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.1-p12UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map8p23UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map13q14.1-q14.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17p13.1-p12UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q23.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map4q32.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5q14.2UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map1p35.2UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18q12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map17q21.2-q21.3UniSTS
Cytogenetic Map5q32-q34UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map8p22-p21UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.31-q13.33UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map7q32.2UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map14q31-q32.1UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map2q11.2-q12.1UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map20p11.23-p11.21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map4q21.23UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map12q24.11UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map10q11.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map7q34-q35UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map6p25.1-p23UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map12p13.1UniSTS
Cytogenetic Map13q12.1UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map6p21.32UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map12p13.1-p12.3UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map3p21.2UniSTS
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Cytogenetic Map2p24.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map9p21.1UniSTS
Cytogenetic Map9q34.2-q34.3UniSTS
D1S1425  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map4q21.23UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map8q12.1UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map6q25.2-q25.3UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map2p23-p22UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map17q22-q23UniSTS
Cytogenetic Map2p11.1UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map2p12-p11.2UniSTS
Cytogenetic Map3q11.1UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map1p21.3UniSTS
Cytogenetic Map1q32.2UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map18p11.3-p11.2UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map21p11.1UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map12p12.2-p11.2UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map17q22-q23.2UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map4q21.21UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map7q31.1-q31.3UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map3p21.1-p14.2UniSTS
Cytogenetic Map2p24UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map8q24.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map6q25.2-q27UniSTS
Cytogenetic Map12q24.32UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map15q11-q12UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map15q21.1-q21.2UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map12p13.33UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map19q13.33-q13.41UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map4q31.21UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map1q24.2UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map10p15-p14UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map12q13.1-q13.2UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map3q12.1UniSTS
Cytogenetic Map15q24-q25UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map6pter-p12.1UniSTS
Cytogenetic Map6q16UniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map11q23.1-q23.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map16q24.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic MapXq21.1UniSTS


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 1878 1450 1271 214 1039 98 3090 908 3242 256 1317 1536 130 1047 1785 3
Low 561 1444 455 410 817 367 1266 1287 492 162 143 77 45 1 157 1003 3 2
Below cutoff 97 95 2 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_016248 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005266247 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005266248 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005266249 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005266250 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011534903 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011534904 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011534905 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011534906 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017020381 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017020382 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017020383 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047430072 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047430073 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047430074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047430075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047430076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047430077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047430078 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047430079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047430080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054374063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054374064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054374065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054374066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054374067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054374068 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054374069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054374070 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054374071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054374072 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054374073 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054374074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054374075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054374076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054374077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054374078 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054374079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054374080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054374081 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054374082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB014529 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF176555 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK002166 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074384 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL136527 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE670178 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE694434 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068265 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR627087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA780016 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000025301   ⟹   ENSP00000025301
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1342,272,152 - 42,323,261 (+)Ensembl
RefSeq Acc Id: NM_016248   ⟹   NP_057332
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381342,272,152 - 42,323,261 (+)NCBI
GRCh371342,846,261 - 42,897,403 (+)NCBI
Build 361341,744,289 - 41,795,402 (+)NCBI Archive
Celera1323,903,720 - 23,954,839 (+)RGD
HuRef1323,649,570 - 23,700,689 (+)ENTREZGENE
CHM1_11342,813,753 - 42,864,863 (+)NCBI
T2T-CHM13v2.01341,491,900 - 41,543,005 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005266247   ⟹   XP_005266304
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381342,272,152 - 42,323,261 (+)NCBI
GRCh371342,846,261 - 42,897,403 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005266248   ⟹   XP_005266305
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381342,272,152 - 42,323,261 (+)NCBI
GRCh371342,846,261 - 42,897,403 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005266249   ⟹   XP_005266306
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381342,272,152 - 42,323,261 (+)NCBI
GRCh371342,846,261 - 42,897,403 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005266250   ⟹   XP_005266307
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381342,272,152 - 42,323,261 (+)NCBI
GRCh371342,846,261 - 42,897,403 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011534903   ⟹   XP_011533205
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381342,272,022 - 42,323,261 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011534904   ⟹   XP_011533206
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381342,271,477 - 42,323,261 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011534905   ⟹   XP_011533207
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381342,272,152 - 42,323,261 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011534906   ⟹   XP_011533208
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381342,271,477 - 42,323,261 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017020381   ⟹   XP_016875870
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381342,272,152 - 42,323,261 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017020382   ⟹   XP_016875871
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381342,272,152 - 42,323,261 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017020383   ⟹   XP_016875872
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381342,271,477 - 42,323,261 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047430072   ⟹   XP_047286028
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381342,272,022 - 42,323,261 (+)NCBI
RefSeq Acc Id: XM_047430073   ⟹   XP_047286029
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381342,271,477 - 42,323,261 (+)NCBI
RefSeq Acc Id: XM_047430074   ⟹   XP_047286030
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381342,272,152 - 42,323,261 (+)NCBI
RefSeq Acc Id: XM_047430075   ⟹   XP_047286031
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381342,271,477 - 42,323,261 (+)NCBI
RefSeq Acc Id: XM_047430076   ⟹   XP_047286032
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381342,272,022 - 42,323,261 (+)NCBI
RefSeq Acc Id: XM_047430077   ⟹   XP_047286033
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381342,271,477 - 42,323,261 (+)NCBI
RefSeq Acc Id: XM_047430078   ⟹   XP_047286034
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381342,272,152 - 42,323,261 (+)NCBI
RefSeq Acc Id: XM_047430079   ⟹   XP_047286035
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381342,272,022 - 42,323,261 (+)NCBI
RefSeq Acc Id: XM_047430080   ⟹   XP_047286036
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381342,272,152 - 42,323,261 (+)NCBI
RefSeq Acc Id: XM_054374063   ⟹   XP_054230038
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01341,491,582 - 41,543,005 (+)NCBI
RefSeq Acc Id: XM_054374064   ⟹   XP_054230039
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01341,491,900 - 41,543,005 (+)NCBI
RefSeq Acc Id: XM_054374065   ⟹   XP_054230040
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01341,492,355 - 41,543,005 (+)NCBI
RefSeq Acc Id: XM_054374066   ⟹   XP_054230041
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01341,491,151 - 41,543,005 (+)NCBI
RefSeq Acc Id: XM_054374067   ⟹   XP_054230042
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01341,491,099 - 41,543,005 (+)NCBI
RefSeq Acc Id: XM_054374068   ⟹   XP_054230043
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01341,491,900 - 41,543,005 (+)NCBI
RefSeq Acc Id: XM_054374069   ⟹   XP_054230044
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01341,491,582 - 41,543,005 (+)NCBI
RefSeq Acc Id: XM_054374070   ⟹   XP_054230045
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01341,491,227 - 41,543,005 (+)NCBI
RefSeq Acc Id: XM_054374071   ⟹   XP_054230046
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01341,491,900 - 41,543,005 (+)NCBI
RefSeq Acc Id: XM_054374072   ⟹   XP_054230047
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01341,491,219 - 41,543,005 (+)NCBI
RefSeq Acc Id: XM_054374073   ⟹   XP_054230048
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01341,491,900 - 41,543,005 (+)NCBI
RefSeq Acc Id: XM_054374074   ⟹   XP_054230049
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01341,491,764 - 41,543,005 (+)NCBI
RefSeq Acc Id: XM_054374075   ⟹   XP_054230050
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01341,491,900 - 41,543,005 (+)NCBI
RefSeq Acc Id: XM_054374076   ⟹   XP_054230051
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01341,491,227 - 41,543,005 (+)NCBI
RefSeq Acc Id: XM_054374077   ⟹   XP_054230052
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01341,491,228 - 41,543,005 (+)NCBI
RefSeq Acc Id: XM_054374078   ⟹   XP_054230053
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01341,491,900 - 41,543,005 (+)NCBI
RefSeq Acc Id: XM_054374079   ⟹   XP_054230054
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01341,491,623 - 41,543,005 (+)NCBI
RefSeq Acc Id: XM_054374080   ⟹   XP_054230055
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01341,491,900 - 41,543,005 (+)NCBI
RefSeq Acc Id: XM_054374081   ⟹   XP_054230056
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01341,491,900 - 41,543,005 (+)NCBI
RefSeq Acc Id: XM_054374082   ⟹   XP_054230057
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01341,491,900 - 41,543,005 (+)NCBI
Protein Sequences
Protein RefSeqs NP_057332 (Get FASTA)   NCBI Sequence Viewer  
  XP_005266304 (Get FASTA)   NCBI Sequence Viewer  
  XP_005266305 (Get FASTA)   NCBI Sequence Viewer  
  XP_005266306 (Get FASTA)   NCBI Sequence Viewer  
  XP_005266307 (Get FASTA)   NCBI Sequence Viewer  
  XP_011533205 (Get FASTA)   NCBI Sequence Viewer  
  XP_011533206 (Get FASTA)   NCBI Sequence Viewer  
  XP_011533207 (Get FASTA)   NCBI Sequence Viewer  
  XP_011533208 (Get FASTA)   NCBI Sequence Viewer  
  XP_016875870 (Get FASTA)   NCBI Sequence Viewer  
  XP_016875871 (Get FASTA)   NCBI Sequence Viewer  
  XP_016875872 (Get FASTA)   NCBI Sequence Viewer  
  XP_047286028 (Get FASTA)   NCBI Sequence Viewer  
  XP_047286029 (Get FASTA)   NCBI Sequence Viewer  
  XP_047286030 (Get FASTA)   NCBI Sequence Viewer  
  XP_047286031 (Get FASTA)   NCBI Sequence Viewer  
  XP_047286032 (Get FASTA)   NCBI Sequence Viewer  
  XP_047286033 (Get FASTA)   NCBI Sequence Viewer  
  XP_047286034 (Get FASTA)   NCBI Sequence Viewer  
  XP_047286035 (Get FASTA)   NCBI Sequence Viewer  
  XP_047286036 (Get FASTA)   NCBI Sequence Viewer  
  XP_054230038 (Get FASTA)   NCBI Sequence Viewer  
  XP_054230039 (Get FASTA)   NCBI Sequence Viewer  
  XP_054230040 (Get FASTA)   NCBI Sequence Viewer  
  XP_054230041 (Get FASTA)   NCBI Sequence Viewer  
  XP_054230042 (Get FASTA)   NCBI Sequence Viewer  
  XP_054230043 (Get FASTA)   NCBI Sequence Viewer  
  XP_054230044 (Get FASTA)   NCBI Sequence Viewer  
  XP_054230045 (Get FASTA)   NCBI Sequence Viewer  
  XP_054230046 (Get FASTA)   NCBI Sequence Viewer  
  XP_054230047 (Get FASTA)   NCBI Sequence Viewer  
  XP_054230048 (Get FASTA)   NCBI Sequence Viewer  
  XP_054230049 (Get FASTA)   NCBI Sequence Viewer  
  XP_054230050 (Get FASTA)   NCBI Sequence Viewer  
  XP_054230051 (Get FASTA)   NCBI Sequence Viewer  
  XP_054230052 (Get FASTA)   NCBI Sequence Viewer  
  XP_054230053 (Get FASTA)   NCBI Sequence Viewer  
  XP_054230054 (Get FASTA)   NCBI Sequence Viewer  
  XP_054230055 (Get FASTA)   NCBI Sequence Viewer  
  XP_054230056 (Get FASTA)   NCBI Sequence Viewer  
  XP_054230057 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAF07045 (Get FASTA)   NCBI Sequence Viewer  
  BAA31604 (Get FASTA)   NCBI Sequence Viewer  
  BAA92117 (Get FASTA)   NCBI Sequence Viewer  
  CAH10362 (Get FASTA)   NCBI Sequence Viewer  
  EAX08676 (Get FASTA)   NCBI Sequence Viewer  
  EAX08677 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000025301
  ENSP00000025301.2
GenBank Protein Q9UKA4 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_057332   ⟸   NM_016248
- UniProtKB: O75124 (UniProtKB/Swiss-Prot),   Q9NUK7 (UniProtKB/Swiss-Prot),   Q9UKA4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005266305   ⟸   XM_005266248
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_005266304   ⟸   XM_005266247
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_005266306   ⟸   XM_005266249
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_005266307   ⟸   XM_005266250
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_011533208   ⟸   XM_011534906
- Peptide Label: isoform X1
- UniProtKB: O75124 (UniProtKB/Swiss-Prot),   Q9NUK7 (UniProtKB/Swiss-Prot),   Q9UKA4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011533206   ⟸   XM_011534904
- Peptide Label: isoform X1
- UniProtKB: O75124 (UniProtKB/Swiss-Prot),   Q9NUK7 (UniProtKB/Swiss-Prot),   Q9UKA4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011533205   ⟸   XM_011534903
- Peptide Label: isoform X1
- UniProtKB: O75124 (UniProtKB/Swiss-Prot),   Q9NUK7 (UniProtKB/Swiss-Prot),   Q9UKA4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011533207   ⟸   XM_011534905
- Peptide Label: isoform X1
- UniProtKB: O75124 (UniProtKB/Swiss-Prot),   Q9NUK7 (UniProtKB/Swiss-Prot),   Q9UKA4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016875872   ⟸   XM_017020383
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016875871   ⟸   XM_017020382
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016875870   ⟸   XM_017020381
- Peptide Label: isoform X1
- UniProtKB: O75124 (UniProtKB/Swiss-Prot),   Q9NUK7 (UniProtKB/Swiss-Prot),   Q9UKA4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000025301   ⟸   ENST00000025301
RefSeq Acc Id: XP_047286029   ⟸   XM_047430073
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047286033   ⟸   XM_047430077
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047286031   ⟸   XM_047430075
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047286028   ⟸   XM_047430072
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047286032   ⟸   XM_047430076
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047286035   ⟸   XM_047430079
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047286034   ⟸   XM_047430078
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047286030   ⟸   XM_047430074
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047286036   ⟸   XM_047430080
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054230042   ⟸   XM_054374067
- Peptide Label: isoform X1
- UniProtKB: Q9UKA4 (UniProtKB/Swiss-Prot),   O75124 (UniProtKB/Swiss-Prot),   Q9NUK7 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054230041   ⟸   XM_054374066
- Peptide Label: isoform X1
- UniProtKB: Q9UKA4 (UniProtKB/Swiss-Prot),   O75124 (UniProtKB/Swiss-Prot),   Q9NUK7 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054230047   ⟸   XM_054374072
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054230045   ⟸   XM_054374070
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054230051   ⟸   XM_054374076
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054230052   ⟸   XM_054374077
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054230038   ⟸   XM_054374063
- Peptide Label: isoform X1
- UniProtKB: Q9UKA4 (UniProtKB/Swiss-Prot),   O75124 (UniProtKB/Swiss-Prot),   Q9NUK7 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054230044   ⟸   XM_054374069
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054230054   ⟸   XM_054374079
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054230049   ⟸   XM_054374074
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054230056   ⟸   XM_054374081
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054230043   ⟸   XM_054374068
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054230057   ⟸   XM_054374082
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054230048   ⟸   XM_054374073
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054230053   ⟸   XM_054374078
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054230039   ⟸   XM_054374064
- Peptide Label: isoform X1
- UniProtKB: Q9UKA4 (UniProtKB/Swiss-Prot),   O75124 (UniProtKB/Swiss-Prot),   Q9NUK7 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054230046   ⟸   XM_054374071
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054230050   ⟸   XM_054374075
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054230055   ⟸   XM_054374080
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054230040   ⟸   XM_054374065
- Peptide Label: isoform X1
- UniProtKB: Q9UKA4 (UniProtKB/Swiss-Prot),   O75124 (UniProtKB/Swiss-Prot),   Q9NUK7 (UniProtKB/Swiss-Prot)

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9UKA4-F1-model_v2 AlphaFold Q9UKA4 1-1901 view protein structure

Promoters
RGD ID:6790790
Promoter ID:HG_KWN:17689
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000316176,   NM_016248
Position:
Human AssemblyChrPosition (strand)Source
Build 361341,743,686 - 41,744,467 (+)MPROMDB
RGD ID:6810468
Promoter ID:HG_ACW:20596
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:AKAP11.CAPR07,   AKAP11.IAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 361341,775,451 - 41,775,951 (+)MPROMDB
RGD ID:7226303
Promoter ID:EPDNEW_H18896
Type:initiation region
Name:AKAP11_3
Description:A-kinase anchoring protein 11
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H18897  EPDNEW_H18898  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381342,271,513 - 42,271,573EPDNEW
RGD ID:7226301
Promoter ID:EPDNEW_H18897
Type:initiation region
Name:AKAP11_2
Description:A-kinase anchoring protein 11
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H18896  EPDNEW_H18898  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381342,272,023 - 42,272,083EPDNEW
RGD ID:7226305
Promoter ID:EPDNEW_H18898
Type:initiation region
Name:AKAP11_1
Description:A-kinase anchoring protein 11
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H18897  EPDNEW_H18896  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381342,272,157 - 42,272,217EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:369 AgrOrtholog
COSMIC AKAP11 COSMIC
Ensembl Genes ENSG00000023516 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000025301 ENTREZGENE
  ENST00000025301.4 UniProtKB/Swiss-Prot
GTEx ENSG00000023516 GTEx
HGNC ID HGNC:369 ENTREZGENE
Human Proteome Map AKAP11 Human Proteome Map
InterPro SPHK1-interactor_AKAP_110 UniProtKB/Swiss-Prot
KEGG Report hsa:11215 UniProtKB/Swiss-Prot
NCBI Gene 11215 ENTREZGENE
OMIM 604696 OMIM
PANTHER A-KINASE ANCHOR PROTEIN 11 UniProtKB/Swiss-Prot
  PTHR10226 UniProtKB/Swiss-Prot
PharmGKB PA24663 PharmGKB
UniProt AKA11_HUMAN UniProtKB/Swiss-Prot
  O75124 ENTREZGENE
  Q9NUK7 ENTREZGENE
  Q9UKA4 ENTREZGENE
UniProt Secondary O75124 UniProtKB/Swiss-Prot
  Q9NUK7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 AKAP11  A-kinase anchoring protein 11  AKAP11  A kinase (PRKA) anchor protein 11  Symbol and/or name change 5135510 APPROVED