AKAP6 (A-kinase anchoring protein 6) - Rat Genome Database

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Gene: AKAP6 (A-kinase anchoring protein 6) Homo sapiens
Analyze
Symbol: AKAP6
Name: A-kinase anchoring protein 6
RGD ID: 69458
HGNC Page HGNC:376
Description: Enables transmembrane transporter binding activity. Involved in cellular response to cAMP; positive regulation of potassium ion transmembrane transport; and regulation of membrane repolarization. Located in nuclear envelope; perinuclear region of cytoplasm; and sarcoplasmic reticulum. Part of calcium channel complex. Implicated in anorexia nervosa and ovary epithelial cancer.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: A kinase (PRKA) anchor protein 6; A-kinase anchor protein 100 kDa; A-kinase anchor protein 6; ADAP100; ADAP6; AKAP 100; AKAP-6; AKAP100; KIAA0311; mAKAP; MGC165020; PRKA6; protein kinase A anchoring protein 6; protein kinase A-anchoring protein 6
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
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
GRCh381432,329,298 - 32,837,684 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1432,329,298 - 32,837,684 (+)EnsemblGRCh38hg38GRCh38
GRCh371432,798,504 - 33,306,890 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361431,868,274 - 32,372,018 (+)NCBINCBI36Build 36hg18NCBI36
Build 341431,868,273 - 32,372,018NCBI
Celera1412,665,076 - 13,167,767 (+)NCBICelera
Cytogenetic Map14q12NCBI
HuRef1412,916,606 - 13,419,742 (+)NCBIHuRef
CHM1_11432,798,120 - 33,300,973 (+)NCBICHM1_1
T2T-CHM13v2.01426,401,181 - 27,034,449 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

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. mAKAP assembles a protein kinase A/PDE4 phosphodiesterase cAMP signaling module. Dodge KL, etal., EMBO J 2001 Apr 17;20(8):1921-30.
3. Variants in genes encoding small GTPases and association with epithelial ovarian cancer susceptibility. Earp M, etal., PLoS One. 2018 Jul 6;13(7):e0197561. doi: 10.1371/journal.pone.0197561. eCollection 2018.
4. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
5. The scaffold protein muscle A-kinase anchoring protein beta orchestrates cardiac myocyte hypertrophic signaling required for the development of heart failure. Kritzer MD, etal., Circ Heart Fail. 2014 Jul;7(4):663-72. doi: 10.1161/CIRCHEARTFAILURE.114.001266. Epub 2014 May 8.
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. Decreased mAKAP, ryanodine receptor, and SERCA2a gene expression in mdx hearts. Rohman MS, etal., Biochem Biophys Res Commun. 2003 Oct 10;310(1):228-35.
9. 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.
10. A genome-wide association study on common SNPs and rare CNVs in anorexia nervosa. Wang K, etal., Mol Psychiatry. 2011 Sep;16(9):949-59. doi: 10.1038/mp.2010.107. Epub 2010 Nov 16.
11. Epigenetic silencing of AKAP12 in juvenile myelomonocytic leukemia. Wilhelm T, etal., Epigenetics. 2016;11(2):110-9. doi: 10.1080/15592294.2016.1145327. Epub 2016 Feb 18.
12. Temporal profile of Src, SSeCKS, and angiogenic factors after focal cerebral ischemia: correlations with angiogenesis and cerebral edema. Zan L, etal., Neurochem Int. 2011 Jul;58(8):872-9. doi: 10.1016/j.neuint.2011.02.014. Epub 2011 Feb 18.
Additional References at PubMed
PMID:7721854   PMID:9205841   PMID:9238861   PMID:9679148   PMID:10413680   PMID:10830164   PMID:11299204   PMID:11352932   PMID:11590243   PMID:11807172   PMID:12168954   PMID:12477932  
PMID:12672969   PMID:12754202   PMID:14702039   PMID:15342556   PMID:15840729   PMID:16177794   PMID:17043677   PMID:17110338   PMID:17474147   PMID:17923693   PMID:19109240   PMID:20106966  
PMID:20677014   PMID:21150319   PMID:21873635   PMID:22484155   PMID:22566634   PMID:22581228   PMID:23414517   PMID:23806656   PMID:26563778   PMID:28067462   PMID:29507755   PMID:29600899  
PMID:31759389   PMID:35914814  


Genomics

Comparative Map Data
AKAP6
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381432,329,298 - 32,837,684 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1432,329,298 - 32,837,684 (+)EnsemblGRCh38hg38GRCh38
GRCh371432,798,504 - 33,306,890 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361431,868,274 - 32,372,018 (+)NCBINCBI36Build 36hg18NCBI36
Build 341431,868,273 - 32,372,018NCBI
Celera1412,665,076 - 13,167,767 (+)NCBICelera
Cytogenetic Map14q12NCBI
HuRef1412,916,606 - 13,419,742 (+)NCBIHuRef
CHM1_11432,798,120 - 33,300,973 (+)NCBICHM1_1
T2T-CHM13v2.01426,401,181 - 27,034,449 (+)NCBIT2T-CHM13v2.0
Akap6
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391252,745,371 - 53,202,351 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1252,746,166 - 53,202,382 (+)EnsemblGRCm39 Ensembl
GRCm381252,698,588 - 53,155,568 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1252,699,383 - 53,155,599 (+)EnsemblGRCm38mm10GRCm38
MGSCv371253,800,370 - 54,252,002 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361253,620,875 - 54,072,638 (+)NCBIMGSCv36mm8
Celera1254,009,109 - 54,451,716 (+)NCBICelera
Cytogenetic Map12C1NCBI
cM Map1222.18NCBI
Akap6
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8675,919,350 - 76,359,667 (+)NCBIGRCr8
mRatBN7.2670,184,101 - 70,624,369 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl670,184,175 - 70,619,738 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx670,602,131 - 71,041,292 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0670,908,778 - 71,347,917 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0670,348,346 - 70,787,478 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0673,553,111 - 73,991,992 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl673,553,210 - 73,990,534 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0683,111,409 - 83,547,031 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4673,010,779 - 73,354,520 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1673,016,484 - 73,357,646 (+)NCBI
Celera669,046,483 - 69,480,156 (+)NCBICelera
Cytogenetic Map6q23NCBI
Akap6
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540928,077,621 - 28,516,944 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540928,067,814 - 28,516,881 (-)NCBIChiLan1.0ChiLan1.0
AKAP6
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21533,530,973 - 34,155,583 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11432,747,476 - 33,372,086 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01412,978,221 - 13,602,732 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11431,290,939 - 31,792,166 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1431,395,026 - 31,792,166 (+)Ensemblpanpan1.1panPan2
AKAP6
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1811,403,655 - 11,882,684 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl811,406,280 - 11,874,406 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha811,299,751 - 11,679,685 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0811,415,673 - 11,984,846 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl811,508,505 - 11,986,716 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1811,188,259 - 11,668,695 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0811,269,184 - 11,750,344 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0811,547,419 - 12,028,362 (+)NCBIUU_Cfam_GSD_1.0
Akap6
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440864043,239,054 - 43,722,811 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364946,744,892 - 7,228,686 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364946,744,923 - 7,228,670 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
AKAP6
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl766,915,881 - 67,375,177 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1766,913,541 - 67,462,147 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2771,765,469 - 72,075,989 (-)NCBISscrofa10.2Sscrofa10.2susScr3
Akap6
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248383,999,663 - 4,393,055 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248383,992,769 - 4,393,055 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in AKAP6
139 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_004274.5(AKAP6):c.4806del (p.Tyr1603fs) deletion See cases [RCV001291704] Chr14:32822618 [GRCh38]
Chr14:33291824 [GRCh37]
Chr14:14q12		 uncertain significance
GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1 copy number loss See cases [RCV000051485] Chr14:20196945..45284802 [GRCh38]
Chr14:20665104..45754005 [GRCh37]
Chr14:19734944..44823755 [NCBI36]
Chr14:14q11.2-21.2		 pathogenic
GRCh38/hg38 14q11.2-21.1(chr14:23548960-41983402)x1 copy number loss See cases [RCV000051490] Chr14:23548960..41983402 [GRCh38]
Chr14:24018169..42452605 [GRCh37]
Chr14:23088009..41522355 [NCBI36]
Chr14:14q11.2-21.1		 pathogenic
GRCh38/hg38 14q12-21.2(chr14:30670314-44990595)x3 copy number gain See cases [RCV000052292] Chr14:30670314..44990595 [GRCh38]
Chr14:31139520..45459798 [GRCh37]
Chr14:30209271..44529548 [NCBI36]
Chr14:14q12-21.2		 pathogenic
GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3 copy number gain See cases [RCV000053803] Chr14:20000611..38984415 [GRCh38]
Chr14:20468770..39453619 [GRCh37]
Chr14:19538610..38523370 [NCBI36]
Chr14:14q11.2-21.1		 pathogenic
GRCh38/hg38 14q11.2-21.1(chr14:20150949-39746154)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053806]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053806]|See cases [RCV000053806] Chr14:20150949..39746154 [GRCh38]
Chr14:20619108..40215358 [GRCh37]
Chr14:19688948..39285109 [NCBI36]
Chr14:14q11.2-21.1		 pathogenic
NM_004274.4(AKAP6):c.643T>A (p.Tyr215Asn) single nucleotide variant Malignant melanoma [RCV000070528] Chr14:32545296 [GRCh38]
Chr14:33014502 [GRCh37]
Chr14:32084253 [NCBI36]
Chr14:14q12		 not provided
NM_004274.4(AKAP6):c.1901C>T (p.Pro634Leu) single nucleotide variant Malignant melanoma [RCV000070529] Chr14:32546554 [GRCh38]
Chr14:33015760 [GRCh37]
Chr14:32085511 [NCBI36]
Chr14:14q12		 not provided
NM_004274.4(AKAP6):c.6375C>T (p.Val2125=) single nucleotide variant Malignant melanoma [RCV000070530] Chr14:32824188 [GRCh38]
Chr14:33293394 [GRCh37]
Chr14:32363145 [NCBI36]
Chr14:14q12		 not provided
NM_004274.4(AKAP6):c.4784C>T (p.Ser1595Phe) single nucleotide variant Malignant melanoma [RCV000062744] Chr14:32822597 [GRCh38]
Chr14:33291803 [GRCh37]
Chr14:32361554 [NCBI36]
Chr14:14q12		 not provided
NM_004274.4(AKAP6):c.4809T>C (p.Tyr1603=) single nucleotide variant Malignant melanoma [RCV000062745] Chr14:32822622 [GRCh38]
Chr14:33291828 [GRCh37]
Chr14:32361579 [NCBI36]
Chr14:14q12		 not provided
NM_004274.4(AKAP6):c.-35+8718A>G single nucleotide variant Lung cancer [RCV000098696] Chr14:32338126 [GRCh38]
Chr14:32807332 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.4(AKAP6):c.325-19229G>A single nucleotide variant Lung cancer [RCV000098697] Chr14:32516325 [GRCh38]
Chr14:32985531 [GRCh37]
Chr14:14q12		 uncertain significance
GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3 copy number gain See cases [RCV000135543] Chr14:20151149..106855263 [GRCh38]
Chr14:20619308..107263478 [GRCh37]
Chr14:19689148..106334523 [NCBI36]
Chr14:14q11.2-32.33		 pathogenic
GRCh38/hg38 14q12-13.1(chr14:28803988-33234266)x1 copy number loss See cases [RCV000142290] Chr14:28803988..33234266 [GRCh38]
Chr14:29273194..33703472 [GRCh37]
Chr14:28342945..32773223 [NCBI36]
Chr14:14q12-13.1		 pathogenic
GRCh38/hg38 14q12-21.2(chr14:30792271-44685131)x1 copy number loss See cases [RCV000143063] Chr14:30792271..44685131 [GRCh38]
Chr14:31261477..45154334 [GRCh37]
Chr14:30331228..44224084 [NCBI36]
Chr14:14q12-21.2		 pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3 copy number gain See cases [RCV000143373] Chr14:20043514..106877229 [GRCh38]
Chr14:20511673..107285437 [GRCh37]
Chr14:19581513..106356482 [NCBI36]
Chr14:14q11.2-32.33		 pathogenic
GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3 copy number gain See cases [RCV000143186] Chr14:20022693..44093672 [GRCh38]
Chr14:20490852..44562875 [GRCh37]
Chr14:19560692..43632625 [NCBI36]
Chr14:14q11.2-21.2		 pathogenic
GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3 copy number gain See cases [RCV000143748] Chr14:20043513..48642042 [GRCh38]
Chr14:20511672..49111245 [GRCh37]
Chr14:19581512..48180995 [NCBI36]
Chr14:14q11.2-21.3		 pathogenic
NM_004274.5(AKAP6):c.725A>G (p.Asp242Gly) single nucleotide variant not provided [RCV000488056] Chr14:32545378 [GRCh38]
Chr14:33014584 [GRCh37]
Chr14:14q12		 uncertain significance
GRCh37/hg19 14q11.2-22.2(chr14:23164384-54733411)x3 copy number gain See cases [RCV000447658] Chr14:23164384..54733411 [GRCh37]
Chr14:14q11.2-22.2		 pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3 copy number gain See cases [RCV000446256] Chr14:19794561..107234280 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
GRCh37/hg19 14q11.2-13.1(chr14:19794561-34049214)x3 copy number gain See cases [RCV000448273] Chr14:19794561..34049214 [GRCh37]
Chr14:14q11.2-13.1		 pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437) copy number gain See cases [RCV000512041] Chr14:20511673..107285437 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
NM_004274.5(AKAP6):c.3764G>A (p.Ser1255Asn) single nucleotide variant Inborn genetic diseases [RCV003280226] Chr14:32821577 [GRCh38]
Chr14:33290783 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.4817A>G (p.Asn1606Ser) single nucleotide variant Inborn genetic diseases [RCV003283103] Chr14:32822630 [GRCh38]
Chr14:33291836 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.3275G>T (p.Gly1092Val) single nucleotide variant Inborn genetic diseases [RCV003284830] Chr14:32735785 [GRCh38]
Chr14:33204991 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.5999A>T (p.Asp2000Val) single nucleotide variant Inborn genetic diseases [RCV003253069] Chr14:32823812 [GRCh38]
Chr14:33293018 [GRCh37]
Chr14:14q12		 uncertain significance
GRCh37/hg19 14q11.2-32.33(chr14:19280733-107287663)x3 copy number gain not provided [RCV000738413] Chr14:19280733..107287663 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19327823-107287663)x3 copy number gain not provided [RCV000738414] Chr14:19327823..107287663 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
GRCh37/hg19 14q12(chr14:32953362-32953914)x4 copy number gain not provided [RCV000738442] Chr14:32953362..32953914 [GRCh37]
Chr14:14q12		 benign
GRCh37/hg19 14q12(chr14:32953362-32954139)x0 copy number loss not provided [RCV000738443] Chr14:32953362..32954139 [GRCh37]
Chr14:14q12		 benign
GRCh37/hg19 14q12(chr14:32953362-32954166)x0 copy number loss not provided [RCV000738444] Chr14:32953362..32954166 [GRCh37]
Chr14:14q12		 benign
GRCh37/hg19 14q11.1-32.33(chr14:19000422-107289053)x3 copy number gain not provided [RCV000738412] Chr14:19000422..107289053 [GRCh37]
Chr14:14q11.1-32.33		 pathogenic
NM_004274.5(AKAP6):c.5428T>A (p.Leu1810Met) single nucleotide variant not provided [RCV000892661] Chr14:32823241 [GRCh38]
Chr14:33292447 [GRCh37]
Chr14:14q12		 likely benign
NM_004274.5(AKAP6):c.2514T>C (p.Ala838=) single nucleotide variant not provided [RCV000903856] Chr14:32599454 [GRCh38]
Chr14:33068660 [GRCh37]
Chr14:14q12		 likely benign
NM_004274.5(AKAP6):c.2409= (p.Glu803=) variation not provided [RCV000949985] Chr14:32577182 [GRCh38]
Chr14:33046388 [GRCh37]
Chr14:14q12		 benign
NM_004274.5(AKAP6):c.1781C>T (p.Pro594Leu) single nucleotide variant Inborn genetic diseases [RCV003248353] Chr14:32546434 [GRCh38]
Chr14:33015640 [GRCh37]
Chr14:14q12		 uncertain significance
GRCh37/hg19 14q12-13.1(chr14:33019818-33594129)x4 copy number gain not provided [RCV000849127] Chr14:33019818..33594129 [GRCh37]
Chr14:14q12-13.1		 uncertain significance
GRCh37/hg19 14q12(chr14:32767717-32838383)x3 copy number gain not provided [RCV000848925] Chr14:32767717..32838383 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.5259C>T (p.Ser1753=) single nucleotide variant not provided [RCV000916639] Chr14:32823072 [GRCh38]
Chr14:33292278 [GRCh37]
Chr14:14q12		 likely benign
GRCh37/hg19 14q12(chr14:32752539-33253407)x1 copy number loss not provided [RCV000847776] Chr14:32752539..33253407 [GRCh37]
Chr14:14q12		 uncertain significance
GRCh37/hg19 14q12-13.1(chr14:30448939-35017859)x1 copy number loss not provided [RCV000849105] Chr14:30448939..35017859 [GRCh37]
Chr14:14q12-13.1		 pathogenic
NM_004274.5(AKAP6):c.2305C>T (p.Gln769Ter) single nucleotide variant not provided [RCV000850384] Chr14:32546958 [GRCh38]
Chr14:33016164 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.6661A>G (p.Arg2221Gly) single nucleotide variant Inborn genetic diseases [RCV003290671] Chr14:32824474 [GRCh38]
Chr14:33293680 [GRCh37]
Chr14:14q12		 likely benign
NM_004274.5(AKAP6):c.2185C>T (p.Pro729Ser) single nucleotide variant Inborn genetic diseases [RCV003292197] Chr14:32546838 [GRCh38]
Chr14:33016044 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.436G>A (p.Ala146Thr) single nucleotide variant Inborn genetic diseases [RCV003251791] Chr14:32535665 [GRCh38]
Chr14:33004871 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.5603A>T (p.His1868Leu) single nucleotide variant Inborn genetic diseases [RCV003291807] Chr14:32823416 [GRCh38]
Chr14:33292622 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.2674G>A (p.Glu892Lys) single nucleotide variant not provided [RCV000959444] Chr14:32600736 [GRCh38]
Chr14:33069942 [GRCh37]
Chr14:14q12		 benign
NM_004274.5(AKAP6):c.6504G>A (p.Glu2168=) single nucleotide variant not provided [RCV000889724] Chr14:32824317 [GRCh38]
Chr14:33293523 [GRCh37]
Chr14:14q12		 benign
NM_004274.5(AKAP6):c.4546A>G (p.Thr1516Ala) single nucleotide variant not provided [RCV000957209] Chr14:32822359 [GRCh38]
Chr14:33291565 [GRCh37]
Chr14:14q12		 benign
NM_004274.5(AKAP6):c.1672A>G (p.Asn558Asp) single nucleotide variant not provided [RCV000957208] Chr14:32546325 [GRCh38]
Chr14:33015531 [GRCh37]
Chr14:14q12		 benign
NM_004274.5(AKAP6):c.5998G>T (p.Asp2000Tyr) single nucleotide variant Inborn genetic diseases [RCV003253068] Chr14:32823811 [GRCh38]
Chr14:33293017 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.4444A>G (p.Met1482Val) single nucleotide variant Inborn genetic diseases [RCV003253376] Chr14:32822257 [GRCh38]
Chr14:33291463 [GRCh37]
Chr14:14q12		 uncertain significance
GRCh37/hg19 14q12-13.1(chr14:32893488-33370549)x3 copy number gain not provided [RCV001006612] Chr14:32893488..33370549 [GRCh37]
Chr14:14q12-13.1		 uncertain significance
GRCh37/hg19 14q11.2-21.1(chr14:20511672-42881888)x3 copy number gain not provided [RCV001249358] Chr14:20511672..42881888 [GRCh37]
Chr14:14q11.2-21.1		 not provided
NM_004274.5(AKAP6):c.1224T>G (p.Asn408Lys) single nucleotide variant not provided [RCV001035883] Chr14:32545877 [GRCh38]
Chr14:33015083 [GRCh37]
Chr14:14q12		 uncertain significance
GRCh37/hg19 14q11.2-21.2(chr14:20511672-44829030)x3 copy number gain not provided [RCV001006605] Chr14:20511672..44829030 [GRCh37]
Chr14:14q11.2-21.2		 pathogenic
NM_004274.5(AKAP6):c.5729C>T (p.Pro1910Leu) single nucleotide variant Intellectual disability [RCV001255082] Chr14:32823542 [GRCh38]
Chr14:33292748 [GRCh37]
Chr14:14q12		 uncertain significance
GRCh37/hg19 14q11.2-21.3(chr14:20511672-47481203) copy number gain Seizure [RCV002280625] Chr14:20511672..47481203 [GRCh37]
Chr14:14q11.2-21.3		 pathogenic
NM_004274.5(AKAP6):c.6485G>A (p.Gly2162Asp) single nucleotide variant Inborn genetic diseases [RCV003199008] Chr14:32824298 [GRCh38]
Chr14:33293504 [GRCh37]
Chr14:14q12		 likely benign
NC_000014.8:g.(21162263_36986276)_(36987308_50713602)del deletion Brain-lung-thyroid syndrome [RCV002221171] Chr14:36986276..36987308 [GRCh37]
Chr14:14q11.2-21.3		 pathogenic
NM_004274.5(AKAP6):c.5146G>T (p.Ala1716Ser) single nucleotide variant Inborn genetic diseases [RCV003286651] Chr14:32822959 [GRCh38]
Chr14:33292165 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.3200G>A (p.Ser1067Asn) single nucleotide variant Inborn genetic diseases [RCV002749506] Chr14:32735710 [GRCh38]
Chr14:33204916 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.4659G>A (p.Met1553Ile) single nucleotide variant Inborn genetic diseases [RCV002906637] Chr14:32822472 [GRCh38]
Chr14:33291678 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.6380A>G (p.Asn2127Ser) single nucleotide variant Inborn genetic diseases [RCV002752469] Chr14:32824193 [GRCh38]
Chr14:33293399 [GRCh37]
Chr14:14q12		 likely benign
NM_004274.5(AKAP6):c.3226A>G (p.Ser1076Gly) single nucleotide variant Inborn genetic diseases [RCV002752657] Chr14:32735736 [GRCh38]
Chr14:33204942 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.989G>C (p.Gly330Ala) single nucleotide variant Inborn genetic diseases [RCV002794320] Chr14:32545642 [GRCh38]
Chr14:33014848 [GRCh37]
Chr14:14q12		 uncertain significance
GRCh37/hg19 14q12-13.1(chr14:24959823-33415359)x1 copy number loss not provided [RCV002475721] Chr14:24959823..33415359 [GRCh37]
Chr14:14q12-13.1		 pathogenic
NM_004274.5(AKAP6):c.5124G>T (p.Lys1708Asn) single nucleotide variant Inborn genetic diseases [RCV002840921] Chr14:32822937 [GRCh38]
Chr14:33292143 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.5626C>T (p.Arg1876Cys) single nucleotide variant Inborn genetic diseases [RCV002972803] Chr14:32823439 [GRCh38]
Chr14:33292645 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.1406A>G (p.Asn469Ser) single nucleotide variant Inborn genetic diseases [RCV002839698] Chr14:32546059 [GRCh38]
Chr14:33015265 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.5365T>A (p.Cys1789Ser) single nucleotide variant Inborn genetic diseases [RCV002906575] Chr14:32823178 [GRCh38]
Chr14:33292384 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.4753A>G (p.Asn1585Asp) single nucleotide variant Inborn genetic diseases [RCV002840768] Chr14:32822566 [GRCh38]
Chr14:33291772 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.514G>A (p.Ala172Thr) single nucleotide variant Inborn genetic diseases [RCV002990046] Chr14:32535743 [GRCh38]
Chr14:33004949 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.5454G>C (p.Arg1818Ser) single nucleotide variant Inborn genetic diseases [RCV002839674] Chr14:32823267 [GRCh38]
Chr14:33292473 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.1318G>A (p.Val440Ile) single nucleotide variant Inborn genetic diseases [RCV002864939] Chr14:32545971 [GRCh38]
Chr14:33015177 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.2758G>A (p.Ala920Thr) single nucleotide variant Inborn genetic diseases [RCV002753631] Chr14:32678338 [GRCh38]
Chr14:33147544 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.4612C>A (p.Arg1538Ser) single nucleotide variant Inborn genetic diseases [RCV002752620] Chr14:32822425 [GRCh38]
Chr14:33291631 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.2584C>G (p.Arg862Gly) single nucleotide variant Inborn genetic diseases [RCV002863972] Chr14:32600646 [GRCh38]
Chr14:33069852 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.4121C>T (p.Thr1374Ile) single nucleotide variant Inborn genetic diseases [RCV002753023] Chr14:32821934 [GRCh38]
Chr14:33291140 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.2300A>T (p.Asp767Val) single nucleotide variant Inborn genetic diseases [RCV002798609] Chr14:32546953 [GRCh38]
Chr14:33016159 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.5131A>T (p.Ile1711Phe) single nucleotide variant Inborn genetic diseases [RCV002980581] Chr14:32822944 [GRCh38]
Chr14:33292150 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.3452G>A (p.Arg1151Gln) single nucleotide variant Inborn genetic diseases [RCV002849618] Chr14:32773757 [GRCh38]
Chr14:33242963 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.5873G>A (p.Arg1958Lys) single nucleotide variant Inborn genetic diseases [RCV002761830] Chr14:32823686 [GRCh38]
Chr14:33292892 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.3065C>T (p.Ala1022Val) single nucleotide variant Inborn genetic diseases [RCV003000811] Chr14:32732518 [GRCh38]
Chr14:33201724 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.5861C>T (p.Ser1954Phe) single nucleotide variant Inborn genetic diseases [RCV002822731] Chr14:32823674 [GRCh38]
Chr14:33292880 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.5840C>G (p.Thr1947Ser) single nucleotide variant Inborn genetic diseases [RCV002910484] Chr14:32823653 [GRCh38]
Chr14:33292859 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.4648T>C (p.Phe1550Leu) single nucleotide variant Inborn genetic diseases [RCV002911685] Chr14:32822461 [GRCh38]
Chr14:33291667 [GRCh37]
Chr14:14q12		 likely benign
NM_004274.5(AKAP6):c.2085G>C (p.Arg695Ser) single nucleotide variant Inborn genetic diseases [RCV002844630] Chr14:32546738 [GRCh38]
Chr14:33015944 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.928G>A (p.Asp310Asn) single nucleotide variant Inborn genetic diseases [RCV002926419] Chr14:32545581 [GRCh38]
Chr14:33014787 [GRCh37]
Chr14:14q12		 likely benign
NM_004274.5(AKAP6):c.5629G>A (p.Glu1877Lys) single nucleotide variant Inborn genetic diseases [RCV002888988] Chr14:32823442 [GRCh38]
Chr14:33292648 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.2812A>G (p.Thr938Ala) single nucleotide variant Inborn genetic diseases [RCV002661532] Chr14:32678392 [GRCh38]
Chr14:33147598 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.2761C>G (p.Gln921Glu) single nucleotide variant Inborn genetic diseases [RCV002705091] Chr14:32678341 [GRCh38]
Chr14:33147547 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.28C>T (p.Pro10Ser) single nucleotide variant Inborn genetic diseases [RCV002799803] Chr14:32433521 [GRCh38]
Chr14:32902727 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.2434A>T (p.Met812Leu) single nucleotide variant Inborn genetic diseases [RCV002713317] Chr14:32577207 [GRCh38]
Chr14:33046413 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.1514T>C (p.Val505Ala) single nucleotide variant Inborn genetic diseases [RCV002713316] Chr14:32546167 [GRCh38]
Chr14:33015373 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.3602T>C (p.Val1201Ala) single nucleotide variant Inborn genetic diseases [RCV002892038] Chr14:32821415 [GRCh38]
Chr14:33290621 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.262A>G (p.Thr88Ala) single nucleotide variant Inborn genetic diseases [RCV002916421] Chr14:32433755 [GRCh38]
Chr14:32902961 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.1829C>A (p.Ser610Tyr) single nucleotide variant Inborn genetic diseases [RCV002931718] Chr14:32546482 [GRCh38]
Chr14:33015688 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.2293A>G (p.Met765Val) single nucleotide variant Inborn genetic diseases [RCV002789725] Chr14:32546946 [GRCh38]
Chr14:33016152 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.5254G>A (p.Asp1752Asn) single nucleotide variant Inborn genetic diseases [RCV002874699] Chr14:32823067 [GRCh38]
Chr14:33292273 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.5279C>G (p.Thr1760Ser) single nucleotide variant Inborn genetic diseases [RCV002984031] Chr14:32823092 [GRCh38]
Chr14:33292298 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.1588C>T (p.Pro530Ser) single nucleotide variant Inborn genetic diseases [RCV002708713] Chr14:32546241 [GRCh38]
Chr14:33015447 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.6031A>T (p.Met2011Leu) single nucleotide variant Inborn genetic diseases [RCV002916740] Chr14:32823844 [GRCh38]
Chr14:33293050 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.5621C>T (p.Thr1874Ile) single nucleotide variant Inborn genetic diseases [RCV002763731] Chr14:32823434 [GRCh38]
Chr14:33292640 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.4300G>A (p.Gly1434Ser) single nucleotide variant Inborn genetic diseases [RCV002767624] Chr14:32822113 [GRCh38]
Chr14:33291319 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.1354G>A (p.Ala452Thr) single nucleotide variant not provided [RCV002985291] Chr14:32546007 [GRCh38]
Chr14:33015213 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.1637C>T (p.Thr546Ile) single nucleotide variant Inborn genetic diseases [RCV002920079] Chr14:32546290 [GRCh38]
Chr14:33015496 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.4225T>A (p.Leu1409Ile) single nucleotide variant Inborn genetic diseases [RCV002718265] Chr14:32822038 [GRCh38]
Chr14:33291244 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.5102C>T (p.Ser1701Leu) single nucleotide variant Inborn genetic diseases [RCV002987999] Chr14:32822915 [GRCh38]
Chr14:33292121 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.4496T>G (p.Leu1499Arg) single nucleotide variant Inborn genetic diseases [RCV002935647] Chr14:32822309 [GRCh38]
Chr14:33291515 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.5162G>A (p.Arg1721His) single nucleotide variant Inborn genetic diseases [RCV002920313] Chr14:32822975 [GRCh38]
Chr14:33292181 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.5016G>A (p.Met1672Ile) single nucleotide variant Inborn genetic diseases [RCV002703390] Chr14:32822829 [GRCh38]
Chr14:33292035 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.5247T>A (p.Asp1749Glu) single nucleotide variant Inborn genetic diseases [RCV002936128] Chr14:32823060 [GRCh38]
Chr14:33292266 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.1235G>A (p.Arg412Lys) single nucleotide variant Inborn genetic diseases [RCV002878422] Chr14:32545888 [GRCh38]
Chr14:33015094 [GRCh37]
Chr14:14q12		 likely benign
NM_004274.5(AKAP6):c.4318G>A (p.Val1440Ile) single nucleotide variant Inborn genetic diseases [RCV002836168] Chr14:32822131 [GRCh38]
Chr14:33291337 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.5368A>C (p.Thr1790Pro) single nucleotide variant Inborn genetic diseases [RCV002668615] Chr14:32823181 [GRCh38]
Chr14:33292387 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.5869G>A (p.Val1957Ile) single nucleotide variant Inborn genetic diseases [RCV002934184] Chr14:32823682 [GRCh38]
Chr14:33292888 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.1154C>T (p.Thr385Met) single nucleotide variant Inborn genetic diseases [RCV002832310] Chr14:32545807 [GRCh38]
Chr14:33015013 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.4114A>G (p.Thr1372Ala) single nucleotide variant Inborn genetic diseases [RCV002877706] Chr14:32821927 [GRCh38]
Chr14:33291133 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.4612C>T (p.Arg1538Cys) single nucleotide variant Inborn genetic diseases [RCV002813171] Chr14:32822425 [GRCh38]
Chr14:33291631 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.1819C>A (p.Gln607Lys) single nucleotide variant Inborn genetic diseases [RCV002935188] Chr14:32546472 [GRCh38]
Chr14:33015678 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.1492C>T (p.Pro498Ser) single nucleotide variant Inborn genetic diseases [RCV002808081] Chr14:32546145 [GRCh38]
Chr14:33015351 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.238A>T (p.Thr80Ser) single nucleotide variant Inborn genetic diseases [RCV002878527] Chr14:32433731 [GRCh38]
Chr14:32902937 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.2327C>T (p.Ala776Val) single nucleotide variant Inborn genetic diseases [RCV002808748] Chr14:32546980 [GRCh38]
Chr14:33016186 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.6572C>G (p.Ala2191Gly) single nucleotide variant Inborn genetic diseases [RCV002657428] Chr14:32824385 [GRCh38]
Chr14:33293591 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.536A>C (p.Gln179Pro) single nucleotide variant Inborn genetic diseases [RCV003202766] Chr14:32535765 [GRCh38]
Chr14:33004971 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.4004C>A (p.Ser1335Tyr) single nucleotide variant Inborn genetic diseases [RCV003204191] Chr14:32821817 [GRCh38]
Chr14:33291023 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.2331A>G (p.Ile777Met) single nucleotide variant Inborn genetic diseases [RCV003194936] Chr14:32546984 [GRCh38]
Chr14:33016190 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.2347G>T (p.Gly783Trp) single nucleotide variant Inborn genetic diseases [RCV003208386] Chr14:32577120 [GRCh38]
Chr14:33046326 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.3299T>G (p.Phe1100Cys) single nucleotide variant Inborn genetic diseases [RCV003195982] Chr14:32735809 [GRCh38]
Chr14:33205015 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.5586T>G (p.Asn1862Lys) single nucleotide variant Inborn genetic diseases [RCV003218176] Chr14:32823399 [GRCh38]
Chr14:33292605 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.6455T>C (p.Ile2152Thr) single nucleotide variant Inborn genetic diseases [RCV003200644] Chr14:32824268 [GRCh38]
Chr14:33293474 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.1526G>C (p.Arg509Pro) single nucleotide variant Inborn genetic diseases [RCV003266117] Chr14:32546179 [GRCh38]
Chr14:33015385 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.6872C>A (p.Ala2291Asp) single nucleotide variant Inborn genetic diseases [RCV003364307] Chr14:32824685 [GRCh38]
Chr14:33293891 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.6028A>C (p.Ser2010Arg) single nucleotide variant Inborn genetic diseases [RCV003350562] Chr14:32823841 [GRCh38]
Chr14:33293047 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.3104T>G (p.Leu1035Arg) single nucleotide variant Inborn genetic diseases [RCV003385324] Chr14:32732557 [GRCh38]
Chr14:33201763 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.6517A>C (p.Ser2173Arg) single nucleotide variant Inborn genetic diseases [RCV003362138] Chr14:32824330 [GRCh38]
Chr14:33293536 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.4644G>T (p.Lys1548Asn) single nucleotide variant Inborn genetic diseases [RCV003352604] Chr14:32822457 [GRCh38]
Chr14:33291663 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.1373G>A (p.Cys458Tyr) single nucleotide variant Inborn genetic diseases [RCV003386104] Chr14:32546026 [GRCh38]
Chr14:33015232 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.5771G>T (p.Gly1924Val) single nucleotide variant Inborn genetic diseases [RCV003368676] Chr14:32823584 [GRCh38]
Chr14:33292790 [GRCh37]
Chr14:14q12		 uncertain significance
GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3 copy number gain not provided [RCV003485022] Chr14:20511673..61826023 [GRCh37]
Chr14:14q11.2-23.1		 pathogenic
GRCh37/hg19 14q12-21.2(chr14:29190489-45325177)x1 copy number loss not specified [RCV003987053] Chr14:29190489..45325177 [GRCh37]
Chr14:14q12-21.2		 pathogenic
NM_004274.5(AKAP6):c.4489C>T (p.Pro1497Ser) single nucleotide variant Inborn genetic diseases [RCV003345141] Chr14:32822302 [GRCh38]
Chr14:33291508 [GRCh37]
Chr14:14q12		 uncertain significance
GRCh38/hg38 14q12-21.1(chr14:30382554-37712341)x1 copy number loss See cases [RCV000135334] Chr14:30382554..37712341 [GRCh38]
Chr14:30851760..38181546 [GRCh37]
Chr14:29921511..37251297 [NCBI36]
Chr14:14q12-21.1		 pathogenic
NM_004274.5(AKAP6):c.6664G>T (p.Ala2222Ser) single nucleotide variant Inborn genetic diseases [RCV003260643] Chr14:32824477 [GRCh38]
Chr14:33293683 [GRCh37]
Chr14:14q12		 likely benign
NM_004274.5(AKAP6):c.4511T>C (p.Phe1504Ser) single nucleotide variant Inborn genetic diseases [RCV003175060] Chr14:32822324 [GRCh38]
Chr14:33291530 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.4514A>T (p.Asp1505Val) single nucleotide variant Inborn genetic diseases [RCV003340133] Chr14:32822327 [GRCh38]
Chr14:33291533 [GRCh37]
Chr14:14q12		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2853
Count of miRNA genes:1145
Interacting mature miRNAs:1423
Transcripts:ENST00000280979, ENST00000553547, ENST00000554410, ENST00000554449, ENST00000554740, ENST00000555207, ENST00000555950, ENST00000556037, ENST00000556540, ENST00000556638, ENST00000557102, ENST00000557272, ENST00000557354, ENST00000557396, ENST00000557708
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.

Markers in Region
D14S121  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371433,197,472 - 33,197,625UniSTSGRCh37
Build 361432,267,223 - 32,267,376RGDNCBI36
Celera1413,062,984 - 13,063,133RGD
Cytogenetic Map14q12UniSTS
HuRef1413,314,547 - 13,314,696UniSTS
Marshfield Genetic Map1434.43UniSTS
Marshfield Genetic Map1434.43RGD
TNG Radiation Hybrid Map146512.0UniSTS
Stanford-G3 RH Map14854.0UniSTS
NCBI RH Map14148.2UniSTS
G36054  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371433,286,761 - 33,286,886UniSTSGRCh37
Build 361432,356,512 - 32,356,637RGDNCBI36
Celera1413,152,269 - 13,152,394RGD
Cytogenetic Map14q12UniSTS
HuRef1413,404,244 - 13,404,369UniSTS
L18177  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371432,894,711 - 32,894,916UniSTSGRCh37
Build 361431,964,462 - 31,964,667RGDNCBI36
Celera1412,761,343 - 12,761,548RGD
Cytogenetic Map14q12UniSTS
HuRef1413,012,854 - 13,013,059UniSTS
WI-14096  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371433,300,097 - 33,300,246UniSTSGRCh37
Build 361432,369,848 - 32,369,997RGDNCBI36
Celera1413,165,596 - 13,165,745RGD
Cytogenetic Map14q12UniSTS
HuRef1413,417,571 - 13,417,720UniSTS
GeneMap99-GB4 RH Map1461.81UniSTS
Whitehead-RH Map1472.6UniSTS
NCBI RH Map14157.4UniSTS
RH91259  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371433,300,450 - 33,300,533UniSTSGRCh37
Build 361432,370,201 - 32,370,284RGDNCBI36
Celera1413,165,949 - 13,166,032RGD
Cytogenetic Map14q12UniSTS
HuRef1413,417,924 - 13,418,007UniSTS
GeneMap99-GB4 RH Map1461.81UniSTS
SHGC-82243  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371433,065,598 - 33,065,945UniSTSGRCh37
Build 361432,135,349 - 32,135,696RGDNCBI36
Celera1412,931,130 - 12,931,477RGD
Cytogenetic Map14q12UniSTS
HuRef1413,182,778 - 13,183,125UniSTS
TNG Radiation Hybrid Map146456.0UniSTS
RH123413  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371432,948,456 - 32,948,752UniSTSGRCh37
Build 361432,018,207 - 32,018,503RGDNCBI36
Celera1412,815,061 - 12,815,357RGD
Cytogenetic Map14q12UniSTS
HuRef1413,066,724 - 13,067,020UniSTS
TNG Radiation Hybrid Map146413.0UniSTS
D14S717E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371433,293,538 - 33,293,707UniSTSGRCh37
Build 361432,363,289 - 32,363,458RGDNCBI36
Celera1413,159,046 - 13,159,215RGD
Cytogenetic Map14q12UniSTS
HuRef1413,411,021 - 13,411,190UniSTS
RH45526  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371433,025,993 - 33,026,190UniSTSGRCh37
Build 361432,095,744 - 32,095,941RGDNCBI36
Celera1412,891,532 - 12,891,729RGD
Cytogenetic Map14q12UniSTS
HuRef1413,143,174 - 13,143,371UniSTS
GeneMap99-GB4 RH Map1461.81UniSTS
NCBI RH Map14158.4UniSTS
SHGC-37333  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371433,300,438 - 33,300,537UniSTSGRCh37
Build 361432,370,189 - 32,370,288RGDNCBI36
Celera1413,165,937 - 13,166,036RGD
Cytogenetic Map14q12UniSTS
HuRef1413,417,912 - 13,418,011UniSTS
TNG Radiation Hybrid Map146551.0UniSTS
Stanford-G3 RH Map14878.0UniSTS
NCBI RH Map14151.8UniSTS
GeneMap99-G3 RH Map14878.0UniSTS
D14S1236  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371433,299,802 - 33,300,033UniSTSGRCh37
Build 361432,369,553 - 32,369,784RGDNCBI36
Celera1413,165,301 - 13,165,532RGD
Cytogenetic Map14q12UniSTS
HuRef1413,417,276 - 13,417,507UniSTS
Whitehead-YAC Contig Map14 UniSTS
RH69589  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371433,301,959 - 33,302,198UniSTSGRCh37
Build 361432,371,710 - 32,371,949RGDNCBI36
Celera1413,167,458 - 13,167,697RGD
Cytogenetic Map14q12UniSTS
HuRef1413,419,433 - 13,419,672UniSTS
GeneMap99-GB4 RH Map1461.81UniSTS
NCBI RH Map14158.4UniSTS
G17798  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371432,835,694 - 32,835,789UniSTSGRCh37
Build 361431,905,445 - 31,905,540RGDNCBI36
Celera1412,702,282 - 12,702,377RGD
Cytogenetic Map14q12UniSTS
HuRef1412,953,819 - 12,953,914UniSTS
AKAP6__4280  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371433,301,602 - 33,302,349UniSTSGRCh37
Build 361432,371,353 - 32,372,100RGDNCBI36
Celera1413,167,101 - 13,167,848RGD
HuRef1413,419,076 - 13,419,823UniSTS


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
High
Medium 121 1300 4 2 20 1 1126 799 1197 13 20 14 1 1 1100
Low 1871 887 1402 347 412 189 2349 1330 2490 315 1292 1508 164 875 1506 2
Below cutoff 436 785 318 273 1444 274 880 64 24 89 138 85 6 1 328 182 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_004274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011537378 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011537379 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011537383 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017021808 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017021811 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449754 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449755 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449756 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449757 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047431966 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047431967 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047431968 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047431969 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047431970 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047431971 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054377066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054377067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054377068 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054377069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054377070 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054377071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054377072 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054377073 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054377074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054377075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054377076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054377077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054377078 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054377079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054377080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054377081 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054377082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054377083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054377084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054377085 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054377086 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054377087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB002309 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK094160 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL049781 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL117672 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL132988 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL136298 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL161665 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC137232 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC137233 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC150185 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC150288 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC154413 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP230135 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471078 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF455853 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U17195 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000280979   ⟹   ENSP00000280979
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1432,329,298 - 32,837,684 (+)Ensembl
RefSeq Acc Id: ENST00000553547   ⟹   ENSP00000451239
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1432,473,757 - 32,546,449 (+)Ensembl
RefSeq Acc Id: ENST00000554410   ⟹   ENSP00000451246
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1432,494,271 - 32,545,455 (+)Ensembl
RefSeq Acc Id: ENST00000554449
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1432,433,164 - 32,439,032 (+)Ensembl
RefSeq Acc Id: ENST00000554740   ⟹   ENSP00000452109
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1432,735,851 - 32,774,001 (+)Ensembl
RefSeq Acc Id: ENST00000555207
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1432,616,967 - 32,773,791 (+)Ensembl
RefSeq Acc Id: ENST00000555950
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1432,616,978 - 32,732,765 (+)Ensembl
RefSeq Acc Id: ENST00000556037
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1432,329,350 - 32,433,982 (+)Ensembl
RefSeq Acc Id: ENST00000556540
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1432,733,262 - 32,773,829 (+)Ensembl
RefSeq Acc Id: ENST00000556638   ⟹   ENSP00000452204
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1432,495,072 - 32,545,520 (+)Ensembl
RefSeq Acc Id: ENST00000557102   ⟹   ENSP00000451146
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1432,329,349 - 32,433,817 (+)Ensembl
RefSeq Acc Id: ENST00000557272   ⟹   ENSP00000451247
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1432,329,400 - 32,830,817 (+)Ensembl
RefSeq Acc Id: ENST00000557354   ⟹   ENSP00000450531
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1432,329,344 - 32,734,613 (+)Ensembl
RefSeq Acc Id: ENST00000557396
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1432,693,401 - 32,732,584 (+)Ensembl
RefSeq Acc Id: ENST00000557708
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1432,693,462 - 32,735,725 (+)Ensembl
RefSeq Acc Id: NM_004274   ⟹   NP_004265
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381432,329,298 - 32,837,684 (+)NCBI
GRCh371432,798,479 - 33,302,268 (+)NCBI
Build 361431,868,274 - 32,372,018 (+)NCBI Archive
Celera1412,665,076 - 13,167,767 (+)RGD
HuRef1412,916,606 - 13,419,742 (+)RGD
CHM1_11432,798,120 - 33,300,973 (+)NCBI
T2T-CHM13v2.01426,527,006 - 27,034,449 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011537378   ⟹   XP_011535680
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381432,616,946 - 32,837,684 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011537379   ⟹   XP_011535681
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381432,616,946 - 32,837,684 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011537383   ⟹   XP_011535685
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381432,718,307 - 32,837,684 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017021808   ⟹   XP_016877297
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381432,329,298 - 32,837,684 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024449754   ⟹   XP_024305522
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381432,329,298 - 32,837,684 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024449755   ⟹   XP_024305523
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381432,329,298 - 32,837,684 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024449756   ⟹   XP_024305524
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381432,428,380 - 32,837,684 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024449757   ⟹   XP_024305525
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381432,418,372 - 32,837,684 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047431966   ⟹   XP_047287922
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381432,329,298 - 32,837,684 (+)NCBI
RefSeq Acc Id: XM_047431967   ⟹   XP_047287923
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381432,329,298 - 32,837,684 (+)NCBI
RefSeq Acc Id: XM_047431968   ⟹   XP_047287924
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381432,418,372 - 32,837,684 (+)NCBI
RefSeq Acc Id: XM_047431969   ⟹   XP_047287925
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381432,329,298 - 32,837,684 (+)NCBI
RefSeq Acc Id: XM_047431970   ⟹   XP_047287926
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381432,329,298 - 32,837,684 (+)NCBI
RefSeq Acc Id: XM_047431971   ⟹   XP_047287927
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381432,495,117 - 32,837,684 (+)NCBI
RefSeq Acc Id: XM_054377066   ⟹   XP_054233041
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01426,401,208 - 27,034,449 (+)NCBI
RefSeq Acc Id: XM_054377067   ⟹   XP_054233042
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01426,401,208 - 27,034,449 (+)NCBI
RefSeq Acc Id: XM_054377068   ⟹   XP_054233043
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01426,401,210 - 27,034,449 (+)NCBI
RefSeq Acc Id: XM_054377069   ⟹   XP_054233044
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01426,401,230 - 27,034,449 (+)NCBI
RefSeq Acc Id: XM_054377070   ⟹   XP_054233045
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01426,626,171 - 27,034,449 (+)NCBI
RefSeq Acc Id: XM_054377071   ⟹   XP_054233046
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01426,616,103 - 27,034,449 (+)NCBI
RefSeq Acc Id: XM_054377072   ⟹   XP_054233047
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01426,543,057 - 27,034,449 (+)NCBI
RefSeq Acc Id: XM_054377073   ⟹   XP_054233048
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01426,401,181 - 27,034,449 (+)NCBI
RefSeq Acc Id: XM_054377074   ⟹   XP_054233049
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01426,401,210 - 27,034,449 (+)NCBI
RefSeq Acc Id: XM_054377075   ⟹   XP_054233050
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01426,401,236 - 27,034,449 (+)NCBI
RefSeq Acc Id: XM_054377076   ⟹   XP_054233051
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01426,401,237 - 27,034,449 (+)NCBI
RefSeq Acc Id: XM_054377077   ⟹   XP_054233052
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01426,401,230 - 27,034,449 (+)NCBI
RefSeq Acc Id: XM_054377078   ⟹   XP_054233053
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01426,401,210 - 27,034,449 (+)NCBI
RefSeq Acc Id: XM_054377079   ⟹   XP_054233054
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01426,401,237 - 27,034,449 (+)NCBI
RefSeq Acc Id: XM_054377080   ⟹   XP_054233055
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01426,616,107 - 27,034,449 (+)NCBI
RefSeq Acc Id: XM_054377081   ⟹   XP_054233056
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01426,401,237 - 27,034,449 (+)NCBI
RefSeq Acc Id: XM_054377082   ⟹   XP_054233057
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01426,401,237 - 27,034,449 (+)NCBI
RefSeq Acc Id: XM_054377083   ⟹   XP_054233058
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01426,691,297 - 27,034,449 (+)NCBI
RefSeq Acc Id: XM_054377084   ⟹   XP_054233059
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01426,817,908 - 27,034,449 (+)NCBI
RefSeq Acc Id: XM_054377085   ⟹   XP_054233060
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01426,812,705 - 27,034,449 (+)NCBI
RefSeq Acc Id: XM_054377086   ⟹   XP_054233061
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01426,812,706 - 27,034,449 (+)NCBI
RefSeq Acc Id: XM_054377087   ⟹   XP_054233062
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01426,915,094 - 27,034,449 (+)NCBI
Protein Sequences
Protein RefSeqs NP_004265 (Get FASTA)   NCBI Sequence Viewer  
  XP_011535680 (Get FASTA)   NCBI Sequence Viewer  
  XP_011535681 (Get FASTA)   NCBI Sequence Viewer  
  XP_011535685 (Get FASTA)   NCBI Sequence Viewer  
  XP_016877297 (Get FASTA)   NCBI Sequence Viewer  
  XP_024305522 (Get FASTA)   NCBI Sequence Viewer  
  XP_024305523 (Get FASTA)   NCBI Sequence Viewer  
  XP_024305524 (Get FASTA)   NCBI Sequence Viewer  
  XP_024305525 (Get FASTA)   NCBI Sequence Viewer  
  XP_047287922 (Get FASTA)   NCBI Sequence Viewer  
  XP_047287923 (Get FASTA)   NCBI Sequence Viewer  
  XP_047287924 (Get FASTA)   NCBI Sequence Viewer  
  XP_047287925 (Get FASTA)   NCBI Sequence Viewer  
  XP_047287926 (Get FASTA)   NCBI Sequence Viewer  
  XP_047287927 (Get FASTA)   NCBI Sequence Viewer  
  XP_054233041 (Get FASTA)   NCBI Sequence Viewer  
  XP_054233042 (Get FASTA)   NCBI Sequence Viewer  
  XP_054233043 (Get FASTA)   NCBI Sequence Viewer  
  XP_054233044 (Get FASTA)   NCBI Sequence Viewer  
  XP_054233045 (Get FASTA)   NCBI Sequence Viewer  
  XP_054233046 (Get FASTA)   NCBI Sequence Viewer  
  XP_054233047 (Get FASTA)   NCBI Sequence Viewer  
  XP_054233048 (Get FASTA)   NCBI Sequence Viewer  
  XP_054233049 (Get FASTA)   NCBI Sequence Viewer  
  XP_054233050 (Get FASTA)   NCBI Sequence Viewer  
  XP_054233051 (Get FASTA)   NCBI Sequence Viewer  
  XP_054233052 (Get FASTA)   NCBI Sequence Viewer  
  XP_054233053 (Get FASTA)   NCBI Sequence Viewer  
  XP_054233054 (Get FASTA)   NCBI Sequence Viewer  
  XP_054233055 (Get FASTA)   NCBI Sequence Viewer  
  XP_054233056 (Get FASTA)   NCBI Sequence Viewer  
  XP_054233057 (Get FASTA)   NCBI Sequence Viewer  
  XP_054233058 (Get FASTA)   NCBI Sequence Viewer  
  XP_054233059 (Get FASTA)   NCBI Sequence Viewer  
  XP_054233060 (Get FASTA)   NCBI Sequence Viewer  
  XP_054233061 (Get FASTA)   NCBI Sequence Viewer  
  XP_054233062 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA92354 (Get FASTA)   NCBI Sequence Viewer  
  AAI37233 (Get FASTA)   NCBI Sequence Viewer  
  AAI37234 (Get FASTA)   NCBI Sequence Viewer  
  AAI50186 (Get FASTA)   NCBI Sequence Viewer  
  AAI50289 (Get FASTA)   NCBI Sequence Viewer  
  AAI54414 (Get FASTA)   NCBI Sequence Viewer  
  BAA20770 (Get FASTA)   NCBI Sequence Viewer  
  EAW65931 (Get FASTA)   NCBI Sequence Viewer  
  EAW65932 (Get FASTA)   NCBI Sequence Viewer  
  EAW65933 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000280979
  ENSP00000280979.4
  ENSP00000450531.1
  ENSP00000451146.1
  ENSP00000451239.1
  ENSP00000451246.1
  ENSP00000451247.1
  ENSP00000452109.1
  ENSP00000452204.1
GenBank Protein Q13023 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_004265   ⟸   NM_004274
- UniProtKB: A7E2D4 (UniProtKB/Swiss-Prot),   A7E242 (UniProtKB/Swiss-Prot),   O15028 (UniProtKB/Swiss-Prot),   Q13023 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011535681   ⟸   XM_011537379
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_011535680   ⟸   XM_011537378
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_011535685   ⟸   XM_011537383
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_016877297   ⟸   XM_017021808
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_024305523   ⟸   XM_024449755
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_024305522   ⟸   XM_024449754
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_024305525   ⟸   XM_024449757
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_024305524   ⟸   XM_024449756
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000452204   ⟸   ENST00000556638
RefSeq Acc Id: ENSP00000450531   ⟸   ENST00000557354
RefSeq Acc Id: ENSP00000451247   ⟸   ENST00000557272
RefSeq Acc Id: ENSP00000451146   ⟸   ENST00000557102
RefSeq Acc Id: ENSP00000280979   ⟸   ENST00000280979
RefSeq Acc Id: ENSP00000451239   ⟸   ENST00000553547
RefSeq Acc Id: ENSP00000451246   ⟸   ENST00000554410
RefSeq Acc Id: ENSP00000452109   ⟸   ENST00000554740
RefSeq Acc Id: XP_047287925   ⟸   XM_047431969
- Peptide Label: isoform X2
- UniProtKB: Q13023 (UniProtKB/Swiss-Prot),   A7E2D4 (UniProtKB/Swiss-Prot),   A7E242 (UniProtKB/Swiss-Prot),   O15028 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047287922   ⟸   XM_047431966
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047287926   ⟸   XM_047431970
- Peptide Label: isoform X2
- UniProtKB: Q13023 (UniProtKB/Swiss-Prot),   A7E2D4 (UniProtKB/Swiss-Prot),   A7E242 (UniProtKB/Swiss-Prot),   O15028 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047287923   ⟸   XM_047431967
- Peptide Label: isoform X2
- UniProtKB: Q13023 (UniProtKB/Swiss-Prot),   A7E2D4 (UniProtKB/Swiss-Prot),   A7E242 (UniProtKB/Swiss-Prot),   O15028 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047287924   ⟸   XM_047431968
- Peptide Label: isoform X2
- UniProtKB: Q13023 (UniProtKB/Swiss-Prot),   A7E2D4 (UniProtKB/Swiss-Prot),   A7E242 (UniProtKB/Swiss-Prot),   O15028 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047287927   ⟸   XM_047431971
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054233048   ⟸   XM_054377073
- Peptide Label: isoform X2
- UniProtKB: B2RP22 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054233041   ⟸   XM_054377066
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054233042   ⟸   XM_054377067
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054233043   ⟸   XM_054377068
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054233049   ⟸   XM_054377074
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054233053   ⟸   XM_054377078
- Peptide Label: isoform X2
- UniProtKB: B2RP22 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054233052   ⟸   XM_054377077
- Peptide Label: isoform X2
- UniProtKB: B2RP22 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054233044   ⟸   XM_054377069
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054233050   ⟸   XM_054377075
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054233057   ⟸   XM_054377082
- Peptide Label: isoform X2
- UniProtKB: B2RP22 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054233054   ⟸   XM_054377079
- Peptide Label: isoform X2
- UniProtKB: B2RP22 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054233051   ⟸   XM_054377076
- Peptide Label: isoform X2
- UniProtKB: B2RP22 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054233056   ⟸   XM_054377081
- Peptide Label: isoform X2
- UniProtKB: B2RP22 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054233047   ⟸   XM_054377072
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054233046   ⟸   XM_054377071
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054233055   ⟸   XM_054377080
- Peptide Label: isoform X2
- UniProtKB: B2RP22 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054233045   ⟸   XM_054377070
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054233058   ⟸   XM_054377083
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054233060   ⟸   XM_054377085
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054233061   ⟸   XM_054377086
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054233059   ⟸   XM_054377084
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054233062   ⟸   XM_054377087
- Peptide Label: isoform X6

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q13023-F1-model_v2 AlphaFold Q13023 1-2319 view protein structure

Promoters
RGD ID:7227391
Promoter ID:EPDNEW_H19439
Type:initiation region
Name:AKAP6_1
Description:A-kinase anchoring protein 6
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H19438  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381432,329,310 - 32,329,370EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:376 AgrOrtholog
COSMIC AKAP6 COSMIC
Ensembl Genes ENSG00000151320 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000280979 ENTREZGENE
  ENST00000280979.9 UniProtKB/Swiss-Prot
  ENST00000553547.5 UniProtKB/TrEMBL
  ENST00000554410.5 UniProtKB/TrEMBL
  ENST00000554740.1 UniProtKB/TrEMBL
  ENST00000556638.1 UniProtKB/TrEMBL
  ENST00000557102.1 UniProtKB/TrEMBL
  ENST00000557272.1 UniProtKB/TrEMBL
  ENST00000557354.5 UniProtKB/Swiss-Prot
Gene3D-CATH 1.20.58.60 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000151320 GTEx
HGNC ID HGNC:376 ENTREZGENE
Human Proteome Map AKAP6 Human Proteome Map
InterPro AKAP6/CEP68 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Spectrin/alpha-actinin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Spectrin_repeat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:9472 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 9472 ENTREZGENE
OMIM 604691 OMIM
PANTHER A-KINASE ANCHOR PROTEIN 6 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PKA ANCHORING PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Spectrin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA24670 PharmGKB
SMART SPEC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Spectrin repeat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A7E242 ENTREZGENE
  A7E2D4 ENTREZGENE
  AKAP6_HUMAN UniProtKB/Swiss-Prot
  B2RP22 ENTREZGENE, UniProtKB/TrEMBL
  G3V3B5_HUMAN UniProtKB/TrEMBL
  G3V3H2_HUMAN UniProtKB/TrEMBL
  G3V3H6_HUMAN UniProtKB/TrEMBL
  G3V3H7_HUMAN UniProtKB/TrEMBL
  G3V569_HUMAN UniProtKB/TrEMBL
  H0YJT7_HUMAN UniProtKB/TrEMBL
  O15028 ENTREZGENE
  Q13023 ENTREZGENE
UniProt Secondary A7E242 UniProtKB/Swiss-Prot
  A7E2D4 UniProtKB/Swiss-Prot
  O15028 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 AKAP6  A-kinase anchoring protein 6  AKAP6  A kinase (PRKA) anchor protein 6  Symbol and/or name change 5135510 APPROVED