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 Orthologs
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 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
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 not specified [RCV004299058] Chr14:32821577 [GRCh38]
Chr14:33290783 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.4817A>G (p.Asn1606Ser) single nucleotide variant not specified [RCV004327498] Chr14:32822630 [GRCh38]
Chr14:33291836 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.3275G>T (p.Gly1092Val) single nucleotide variant not specified [RCV004295444] Chr14:32735785 [GRCh38]
Chr14:33204991 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.6664G>T (p.Ala2222Ser) single nucleotide variant not specified [RCV004297761] Chr14:32824477 [GRCh38]
Chr14:33293683 [GRCh37]
Chr14:14q12		 likely benign
NM_004274.5(AKAP6):c.5999A>T (p.Asp2000Val) single nucleotide variant not specified [RCV004304895] 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 not specified [RCV004295890] 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 not specified [RCV004299390] Chr14:32824474 [GRCh38]
Chr14:33293680 [GRCh37]
Chr14:14q12		 likely benign
NM_004274.5(AKAP6):c.2185C>T (p.Pro729Ser) single nucleotide variant not specified [RCV004320682] Chr14:32546838 [GRCh38]
Chr14:33016044 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.436G>A (p.Ala146Thr) single nucleotide variant not specified [RCV004293264] Chr14:32535665 [GRCh38]
Chr14:33004871 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.5603A>T (p.His1868Leu) single nucleotide variant not specified [RCV004309365] 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 not specified [RCV004304894] Chr14:32823811 [GRCh38]
Chr14:33293017 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.4444A>G (p.Met1482Val) single nucleotide variant not specified [RCV004298796] 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 not specified [RCV004271616] 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 not specified [RCV004306976] Chr14:32822959 [GRCh38]
Chr14:33292165 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.3200G>A (p.Ser1067Asn) single nucleotide variant not specified [RCV004233754] Chr14:32735710 [GRCh38]
Chr14:33204916 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.4659G>A (p.Met1553Ile) single nucleotide variant not specified [RCV004169471] Chr14:32822472 [GRCh38]
Chr14:33291678 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.6380A>G (p.Asn2127Ser) single nucleotide variant not specified [RCV004111047] Chr14:32824193 [GRCh38]
Chr14:33293399 [GRCh37]
Chr14:14q12		 likely benign
NM_004274.5(AKAP6):c.3226A>G (p.Ser1076Gly) single nucleotide variant not specified [RCV004113035] Chr14:32735736 [GRCh38]
Chr14:33204942 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.989G>C (p.Gly330Ala) single nucleotide variant not specified [RCV004127672] 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 not specified [RCV004138741] Chr14:32822937 [GRCh38]
Chr14:33292143 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.5626C>T (p.Arg1876Cys) single nucleotide variant not specified [RCV004191591] Chr14:32823439 [GRCh38]
Chr14:33292645 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.1406A>G (p.Asn469Ser) single nucleotide variant not specified [RCV004130729] Chr14:32546059 [GRCh38]
Chr14:33015265 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.5365T>A (p.Cys1789Ser) single nucleotide variant not specified [RCV004169396] Chr14:32823178 [GRCh38]
Chr14:33292384 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.4753A>G (p.Asn1585Asp) single nucleotide variant not specified [RCV004136802] Chr14:32822566 [GRCh38]
Chr14:33291772 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.514G>A (p.Ala172Thr) single nucleotide variant not specified [RCV004199469] Chr14:32535743 [GRCh38]
Chr14:33004949 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.5454G>C (p.Arg1818Ser) single nucleotide variant not specified [RCV004130654] Chr14:32823267 [GRCh38]
Chr14:33292473 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.1318G>A (p.Val440Ile) single nucleotide variant not specified [RCV004144799] Chr14:32545971 [GRCh38]
Chr14:33015177 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.2758G>A (p.Ala920Thr) single nucleotide variant not specified [RCV004240280] Chr14:32678338 [GRCh38]
Chr14:33147544 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.4612C>A (p.Arg1538Ser) single nucleotide variant not specified [RCV004111207] Chr14:32822425 [GRCh38]
Chr14:33291631 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.2584C>G (p.Arg862Gly) single nucleotide variant not specified [RCV004139067] Chr14:32600646 [GRCh38]
Chr14:33069852 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.4121C>T (p.Thr1374Ile) single nucleotide variant not specified [RCV004107549] Chr14:32821934 [GRCh38]
Chr14:33291140 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.2300A>T (p.Asp767Val) single nucleotide variant not specified [RCV004118865] Chr14:32546953 [GRCh38]
Chr14:33016159 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.5131A>T (p.Ile1711Phe) single nucleotide variant not specified [RCV004205759] Chr14:32822944 [GRCh38]
Chr14:33292150 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.3452G>A (p.Arg1151Gln) single nucleotide variant not specified [RCV004144344] Chr14:32773757 [GRCh38]
Chr14:33242963 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.5873G>A (p.Arg1958Lys) single nucleotide variant not specified [RCV004092924] Chr14:32823686 [GRCh38]
Chr14:33292892 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.3065C>T (p.Ala1022Val) single nucleotide variant not specified [RCV004209460] Chr14:32732518 [GRCh38]
Chr14:33201724 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.5861C>T (p.Ser1954Phe) single nucleotide variant not specified [RCV004125028] Chr14:32823674 [GRCh38]
Chr14:33292880 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.5840C>G (p.Thr1947Ser) single nucleotide variant not specified [RCV004157613] Chr14:32823653 [GRCh38]
Chr14:33292859 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.4648T>C (p.Phe1550Leu) single nucleotide variant not specified [RCV004171233] Chr14:32822461 [GRCh38]
Chr14:33291667 [GRCh37]
Chr14:14q12		 likely benign
NM_004274.5(AKAP6):c.2085G>C (p.Arg695Ser) single nucleotide variant not specified [RCV004138337] Chr14:32546738 [GRCh38]
Chr14:33015944 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.928G>A (p.Asp310Asn) single nucleotide variant not specified [RCV004188130] Chr14:32545581 [GRCh38]
Chr14:33014787 [GRCh37]
Chr14:14q12		 likely benign
NM_004274.5(AKAP6):c.5629G>A (p.Glu1877Lys) single nucleotide variant not specified [RCV004168199] Chr14:32823442 [GRCh38]
Chr14:33292648 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.2812A>G (p.Thr938Ala) single nucleotide variant not specified [RCV004085497] Chr14:32678392 [GRCh38]
Chr14:33147598 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.2761C>G (p.Gln921Glu) single nucleotide variant not specified [RCV004233193] Chr14:32678341 [GRCh38]
Chr14:33147547 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.28C>T (p.Pro10Ser) single nucleotide variant not specified [RCV004126125] Chr14:32433521 [GRCh38]
Chr14:32902727 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.2434A>T (p.Met812Leu) single nucleotide variant not specified [RCV004094732] Chr14:32577207 [GRCh38]
Chr14:33046413 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.1514T>C (p.Val505Ala) single nucleotide variant not specified [RCV004094731] Chr14:32546167 [GRCh38]
Chr14:33015373 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.3602T>C (p.Val1201Ala) single nucleotide variant not specified [RCV004162238] Chr14:32821415 [GRCh38]
Chr14:33290621 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.262A>G (p.Thr88Ala) single nucleotide variant not specified [RCV004167358] Chr14:32433755 [GRCh38]
Chr14:32902961 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.1829C>A (p.Ser610Tyr) single nucleotide variant not specified [RCV004181961] Chr14:32546482 [GRCh38]
Chr14:33015688 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.2293A>G (p.Met765Val) single nucleotide variant not specified [RCV004243955] Chr14:32546946 [GRCh38]
Chr14:33016152 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.5254G>A (p.Asp1752Asn) single nucleotide variant not specified [RCV004155019] Chr14:32823067 [GRCh38]
Chr14:33292273 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.5279C>G (p.Thr1760Ser) single nucleotide variant not specified [RCV004203527] Chr14:32823092 [GRCh38]
Chr14:33292298 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.1588C>T (p.Pro530Ser) single nucleotide variant not specified [RCV004219919] Chr14:32546241 [GRCh38]
Chr14:33015447 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.6031A>T (p.Met2011Leu) single nucleotide variant not specified [RCV004176730] Chr14:32823844 [GRCh38]
Chr14:33293050 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.5621C>T (p.Thr1874Ile) single nucleotide variant not specified [RCV004231486] Chr14:32823434 [GRCh38]
Chr14:33292640 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.4300G>A (p.Gly1434Ser) single nucleotide variant not specified [RCV004113252] 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 not specified [RCV004168317] Chr14:32546290 [GRCh38]
Chr14:33015496 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.4225T>A (p.Leu1409Ile) single nucleotide variant not specified [RCV004092258] Chr14:32822038 [GRCh38]
Chr14:33291244 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.5102C>T (p.Ser1701Leu) single nucleotide variant not specified [RCV004207811] Chr14:32822915 [GRCh38]
Chr14:33292121 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.4496T>G (p.Leu1499Arg) single nucleotide variant not specified [RCV004175255] Chr14:32822309 [GRCh38]
Chr14:33291515 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.5162G>A (p.Arg1721His) single nucleotide variant not specified [RCV004166960] Chr14:32822975 [GRCh38]
Chr14:33292181 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.5016G>A (p.Met1672Ile) single nucleotide variant not specified [RCV004219423] Chr14:32822829 [GRCh38]
Chr14:33292035 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.5247T>A (p.Asp1749Glu) single nucleotide variant not specified [RCV004173873] Chr14:32823060 [GRCh38]
Chr14:33292266 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.1235G>A (p.Arg412Lys) single nucleotide variant not specified [RCV004149955] Chr14:32545888 [GRCh38]
Chr14:33015094 [GRCh37]
Chr14:14q12		 likely benign
NM_004274.5(AKAP6):c.4318G>A (p.Val1440Ile) single nucleotide variant not specified [RCV004136574] Chr14:32822131 [GRCh38]
Chr14:33291337 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.5368A>C (p.Thr1790Pro) single nucleotide variant not specified [RCV004072604] Chr14:32823181 [GRCh38]
Chr14:33292387 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.5869G>A (p.Val1957Ile) single nucleotide variant not specified [RCV004170910] Chr14:32823682 [GRCh38]
Chr14:33292888 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.1154C>T (p.Thr385Met) single nucleotide variant not specified [RCV004146240] Chr14:32545807 [GRCh38]
Chr14:33015013 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.4114A>G (p.Thr1372Ala) single nucleotide variant not specified [RCV004147104] Chr14:32821927 [GRCh38]
Chr14:33291133 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.4612C>T (p.Arg1538Cys) single nucleotide variant not specified [RCV004124438] Chr14:32822425 [GRCh38]
Chr14:33291631 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.1819C>A (p.Gln607Lys) single nucleotide variant not specified [RCV004172546] Chr14:32546472 [GRCh38]
Chr14:33015678 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.1492C>T (p.Pro498Ser) single nucleotide variant not specified [RCV004115875] Chr14:32546145 [GRCh38]
Chr14:33015351 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.238A>T (p.Thr80Ser) single nucleotide variant not specified [RCV004150073] Chr14:32433731 [GRCh38]
Chr14:32902937 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.2327C>T (p.Ala776Val) single nucleotide variant not specified [RCV004120543] Chr14:32546980 [GRCh38]
Chr14:33016186 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.6572C>G (p.Ala2191Gly) single nucleotide variant not specified [RCV004218909] Chr14:32824385 [GRCh38]
Chr14:33293591 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.536A>C (p.Gln179Pro) single nucleotide variant not specified [RCV004257409] Chr14:32535765 [GRCh38]
Chr14:33004971 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.4004C>A (p.Ser1335Tyr) single nucleotide variant not specified [RCV004267665] Chr14:32821817 [GRCh38]
Chr14:33291023 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.2331A>G (p.Ile777Met) single nucleotide variant not specified [RCV004278508] Chr14:32546984 [GRCh38]
Chr14:33016190 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.2347G>T (p.Gly783Trp) single nucleotide variant not specified [RCV004270897] Chr14:32577120 [GRCh38]
Chr14:33046326 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.3299T>G (p.Phe1100Cys) single nucleotide variant not specified [RCV004276288] Chr14:32735809 [GRCh38]
Chr14:33205015 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.5586T>G (p.Asn1862Lys) single nucleotide variant not specified [RCV004280709] Chr14:32823399 [GRCh38]
Chr14:33292605 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.6455T>C (p.Ile2152Thr) single nucleotide variant not specified [RCV004279644] Chr14:32824268 [GRCh38]
Chr14:33293474 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.4511T>C (p.Phe1504Ser) single nucleotide variant not specified [RCV004260146] Chr14:32822324 [GRCh38]
Chr14:33291530 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.1526G>C (p.Arg509Pro) single nucleotide variant not specified [RCV004306666] Chr14:32546179 [GRCh38]
Chr14:33015385 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.4514A>T (p.Asp1505Val) single nucleotide variant not specified [RCV004334368] Chr14:32822327 [GRCh38]
Chr14:33291533 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.4489C>T (p.Pro1497Ser) single nucleotide variant not specified [RCV004342413] Chr14:32822302 [GRCh38]
Chr14:33291508 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.6872C>A (p.Ala2291Asp) single nucleotide variant not specified [RCV004351526] Chr14:32824685 [GRCh38]
Chr14:33293891 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.6028A>C (p.Ser2010Arg) single nucleotide variant not specified [RCV004344235] Chr14:32823841 [GRCh38]
Chr14:33293047 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.3104T>G (p.Leu1035Arg) single nucleotide variant not specified [RCV004360187] Chr14:32732557 [GRCh38]
Chr14:33201763 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.6517A>C (p.Ser2173Arg) single nucleotide variant not specified [RCV004356314] Chr14:32824330 [GRCh38]
Chr14:33293536 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.4644G>T (p.Lys1548Asn) single nucleotide variant not specified [RCV004346890] Chr14:32822457 [GRCh38]
Chr14:33291663 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.1373G>A (p.Cys458Tyr) single nucleotide variant not specified [RCV004363106] Chr14:32546026 [GRCh38]
Chr14:33015232 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.5771G>T (p.Gly1924Val) single nucleotide variant not specified [RCV004335227] 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.4805C>A (p.Ser1602Tyr) single nucleotide variant not specified [RCV004399641] Chr14:32822618 [GRCh38]
Chr14:33291824 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.6042A>T (p.Lys2014Asn) single nucleotide variant not specified [RCV004399721] Chr14:32823855 [GRCh38]
Chr14:33293061 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.6154G>A (p.Glu2052Lys) single nucleotide variant not specified [RCV004399726] Chr14:32823967 [GRCh38]
Chr14:33293173 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.67G>A (p.Ala23Thr) single nucleotide variant not specified [RCV004399753] Chr14:32433560 [GRCh38]
Chr14:32902766 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.68C>A (p.Ala23Asp) single nucleotide variant not specified [RCV004399756] Chr14:32433561 [GRCh38]
Chr14:32902767 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.841T>C (p.Ser281Pro) single nucleotide variant not specified [RCV004399760] Chr14:32545494 [GRCh38]
Chr14:33014700 [GRCh37]
Chr14:14q12		 likely benign
NM_004274.5(AKAP6):c.2698G>T (p.Val900Leu) single nucleotide variant not specified [RCV004399568] Chr14:32600760 [GRCh38]
Chr14:33069966 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.4292C>T (p.Ser1431Leu) single nucleotide variant not specified [RCV004399620] Chr14:32822105 [GRCh38]
Chr14:33291311 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.2112A>G (p.Ile704Met) single nucleotide variant not specified [RCV004399529] Chr14:32546765 [GRCh38]
Chr14:33015971 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.2606A>T (p.Lys869Met) single nucleotide variant not specified [RCV004399561] Chr14:32600668 [GRCh38]
Chr14:33069874 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.2710G>C (p.Glu904Gln) single nucleotide variant not specified [RCV004399575] Chr14:32600772 [GRCh38]
Chr14:33069978 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.4876G>A (p.Gly1626Ser) single nucleotide variant not specified [RCV004399648] Chr14:32822689 [GRCh38]
Chr14:33291895 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.6194A>T (p.Asp2065Val) single nucleotide variant not specified [RCV004399729] Chr14:32824007 [GRCh38]
Chr14:33293213 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.2158A>G (p.Ile720Val) single nucleotide variant not specified [RCV004399535] Chr14:32546811 [GRCh38]
Chr14:33016017 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.2420C>T (p.Pro807Leu) single nucleotide variant not specified [RCV004399556] Chr14:32577193 [GRCh38]
Chr14:33046399 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.2585G>A (p.Arg862Gln) single nucleotide variant not specified [RCV004399560] Chr14:32600647 [GRCh38]
Chr14:33069853 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.2709G>C (p.Glu903Asp) single nucleotide variant not specified [RCV004399572] Chr14:32600771 [GRCh38]
Chr14:33069977 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.3544G>A (p.Val1182Ile) single nucleotide variant not specified [RCV004399605] Chr14:32773849 [GRCh38]
Chr14:33243055 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.3968G>A (p.Ser1323Asn) single nucleotide variant not specified [RCV004399609] Chr14:32821781 [GRCh38]
Chr14:33290987 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.4157T>C (p.Val1386Ala) single nucleotide variant not specified [RCV004399612] Chr14:32821970 [GRCh38]
Chr14:33291176 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.6524C>T (p.Pro2175Leu) single nucleotide variant not specified [RCV004399736] Chr14:32824337 [GRCh38]
Chr14:33293543 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.956C>A (p.Pro319Gln) single nucleotide variant not specified [RCV004399765] Chr14:32545609 [GRCh38]
Chr14:33014815 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.1031T>C (p.Val344Ala) single nucleotide variant not specified [RCV004399487] Chr14:32545684 [GRCh38]
Chr14:33014890 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.1060C>G (p.His354Asp) single nucleotide variant not specified [RCV004399488] Chr14:32545713 [GRCh38]
Chr14:33014919 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.2849T>C (p.Met950Thr) single nucleotide variant not specified [RCV004399584] Chr14:32678429 [GRCh38]
Chr14:33147635 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.2647C>T (p.Leu883Phe) single nucleotide variant not specified [RCV004399566] Chr14:32600709 [GRCh38]
Chr14:33069915 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.3800A>G (p.Asn1267Ser) single nucleotide variant not specified [RCV004399608] Chr14:32821613 [GRCh38]
Chr14:33290819 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.4212T>A (p.Asp1404Glu) single nucleotide variant not specified [RCV004399614] Chr14:32822025 [GRCh38]
Chr14:33291231 [GRCh37]
Chr14:14q12		 uncertain significance
NM_004274.5(AKAP6):c.6601A>T (p.Ser2201Cys) single nucleotide variant not specified [RCV004399744] Chr14:32824414 [GRCh38]
Chr14:33293620 [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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407146564GWAS795540_Heconomic and social preference QTL GWAS795540 (human)0.000006economic and social preference143238181932381820Human
406950471GWAS599447_Hbody mass index QTL GWAS599447 (human)0.000003body mass indexbody mass index (BMI) (CMO:0000105)143283367632833677Human
406888777GWAS537753_Hphysical activity measurement, body mass index QTL GWAS537753 (human)2e-08physical activity measurement, body mass indexbody mass index (BMI) (CMO:0000105)143283367632833677Human
407034441GWAS683417_Hcognitive function measurement, self reported educational attainment QTL GWAS683417 (human)7e-13cognitive function measurement, self reported educational attainment143282353732823538Human
407234633GWAS883609_Hattention deficit hyperactivity disorder, substance abuse, antisocial behaviour measurement QTL GWAS883609 (human)5e-10attention deficit hyperactivity disorder, substance abuse, antisocial behaviour measurement143283406832834069Human
407293768GWAS942744_Hbody mass index QTL GWAS942744 (human)4e-20body mass indexbody mass index (BMI) (CMO:0000105)143282952532829526Human
406947918GWAS596894_HPR interval QTL GWAS596894 (human)3e-11PR intervalPR interval (CMO:0000233)143245413032454131Human
407065164GWAS714140_Hprotein measurement QTL GWAS714140 (human)2e-08protein measurement143274311432743115Human
407090003GWAS738979_Hatrial fibrillation QTL GWAS738979 (human)1e-13atrial fibrillation143245529932455300Human
407081042GWAS730018_Hbody mass index QTL GWAS730018 (human)8e-24body mass indexbody mass index (BMI) (CMO:0000105)143283367632833677Human
406973526GWAS622502_Hintelligence QTL GWAS622502 (human)7e-13intelligence143283433432834335Human
406961240GWAS610216_Hanorexia nervosa QTL GWAS610216 (human)0.000006anorexia nervosa143281326432813265Human
407008856GWAS657832_Hbody mass index QTL GWAS657832 (human)8e-12body mass indexbody mass index (BMI) (CMO:0000105)143283367632833677Human
407014489GWAS663465_Hatrial fibrillation QTL GWAS663465 (human)7e-21atrial fibrillation143252123132521232Human
407298904GWAS947880_Hschizophrenia QTL GWAS947880 (human)1e-09schizophrenia143278870832788709Human
406976864GWAS625840_Hcentral nervous system cancer, glioma QTL GWAS625840 (human)0.000002central nervous system cancer, glioma143278087532780876Human
406985568GWAS634544_Hintelligence QTL GWAS634544 (human)5e-09intelligence143280430532804306Human
407090529GWAS739505_Hcreatine kinase measurement QTL GWAS739505 (human)1e-10creatine kinase measurementblood creatine kinase activity level (CMO:0002242)143270589432705895Human
406902627GWAS551603_Hattention deficit hyperactivity disorder QTL GWAS551603 (human)1e-08attention deficit hyperactivity disorder143283027632830277Human
406996326GWAS645302_Hbody height QTL GWAS645302 (human)2e-19body height (VT:0001253)body height (CMO:0000106)143283433432834335Human
406973796GWAS622772_Hlymphatic vessel endothelial hyaluronic acid receptor 1 measurement QTL GWAS622772 (human)1e-24lymphatic vessel endothelial hyaluronic acid receptor 1 measurement143270661632706617Human
406932071GWAS581047_Hbody mass index QTL GWAS581047 (human)1e-21body mass indexbody mass index (BMI) (CMO:0000105)143282353732823538Human
407105380GWAS754356_Hself reported educational attainment QTL GWAS754356 (human)9e-15self reported educational attainment143282353732823538Human
407318624GWAS967600_Hhigh density lipoprotein cholesterol measurement QTL GWAS967600 (human)4e-08high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)143270661632706617Human
407104360GWAS753336_Hcognitive function measurement QTL GWAS753336 (human)2e-18cognitive function measurement143282353732823538Human
407181934GWAS830910_Hatrial fibrillation QTL GWAS830910 (human)2e-11atrial fibrillation143245387432453875Human
406900588GWAS549564_Hatrial fibrillation QTL GWAS549564 (human)7e-11atrial fibrillation143244288632442887Human
407180651GWAS829627_HFEV/FVC ratio QTL GWAS829627 (human)6e-13FEV/FVC ratioforced expiratory volume to forced vital capacity ratio (CMO:0000241)143244777432447775Human
406988653GWAS637629_Hgait measurement QTL GWAS637629 (human)2e-09gait measurement143283433432834335Human
407309941GWAS958917_Hfat body mass QTL GWAS958917 (human)4e-17body fat mass (VT:0010482)total body fat mass (CMO:0000305)143282353732823538Human
406945138GWAS594114_Hintelligence QTL GWAS594114 (human)1e-13intelligence143283431132834312Human
406984305GWAS633281_Hintelligence QTL GWAS633281 (human)1e-09intelligence143280980432809805Human
407392894GWAS1041870_Hcolorectal cancer QTL GWAS1041870 (human)0.000005colorectal cancer143248235032482351Human
407038074GWAS687050_Hbody mass index QTL GWAS687050 (human)2e-36body mass indexbody mass index (BMI) (CMO:0000105)143282391632823917Human
407018619GWAS667595_Hatrial fibrillation QTL GWAS667595 (human)5e-15atrial fibrillation143245529932455300Human
406899578GWAS548554_Hatrial fibrillation QTL GWAS548554 (human)3e-30atrial fibrillation143252123132521232Human
407087225GWAS736201_Hvisceral adipose tissue measurement QTL GWAS736201 (human)3e-12visceral adipose tissue measurementabdominal fat morphological measurement (CMO:0000311)143282353732823538Human
407082365GWAS731341_Hintelligence QTL GWAS731341 (human)1e-09intelligence143283522532835226Human
406967041GWAS616017_Hsleep quality QTL GWAS616017 (human)0.000007sleep quality143276093332760934Human
407050504GWAS699480_Hbody mass index QTL GWAS699480 (human)8e-09body mass indexbody mass index (BMI) (CMO:0000105)143283367632833677Human
407159816GWAS808792_Htype 2 diabetes mellitus QTL GWAS808792 (human)3e-09C-reactive protein measurementblood C-reactive protein level (CMO:0003160)143283367632833677Human
407232791GWAS881767_Hwellbeing measurement, alcohol consumption measurement QTL GWAS881767 (human)2e-08wellbeing measurement, alcohol consumption measurementethanol drink intake rate (CMO:0001407)143243304632433047Human
407035156GWAS684132_Halcohol consumption measurement QTL GWAS684132 (human)1e-15alcohol consumption measurementethanol drink intake rate (CMO:0001407)143269385032693851Human
407103515GWAS752491_Hmathematical ability QTL GWAS752491 (human)1e-09mathematical ability143282353732823538Human
407049754GWAS698730_Hadenosine measurement QTL GWAS698730 (human)0.000007erythrocyte ATP amount (VT:0010942)143265495532654956Human
407393556GWAS1042532_Hurate measurement, bone density QTL GWAS1042532 (human)4e-08bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)143238868832388689Human
407261723GWAS910699_Hverbal-numerical reasoning measurement QTL GWAS910699 (human)3e-09cortical thickness143282353732823538Human
406937121GWAS586097_Hage at onset, Myopia QTL GWAS586097 (human)4e-11age at onset, Myopia143283433432834335Human
407016230GWAS665206_Hbody mass index QTL GWAS665206 (human)1e-18body mass indexbody mass index (BMI) (CMO:0000105)143282391632823917Human
407176738GWAS825714_HFEV/FVC ratio QTL GWAS825714 (human)6e-11FEV/FVC ratioforced expiratory volume to forced vital capacity ratio (CMO:0000241)143243788032437881Human
407056171GWAS705147_Hintelligence QTL GWAS705147 (human)1e-13intelligence143282353732823538Human
406900009GWAS548985_Heye morphology measurement QTL GWAS548985 (human)0.000001eye morphology measurementeye morphological measurement (CMO:0003080)143256965532569656Human
406948138GWAS597114_HPR interval QTL GWAS597114 (human)3e-10PR intervalPR interval (CMO:0000233)143245447132454472Human
407004207GWAS653183_Hinterleukin 1 receptor antagonist measurement QTL GWAS653183 (human)0.000002interleukin 1 receptor antagonist measurement143273141732731418Human
407081772GWAS730748_Hbody mass index QTL GWAS730748 (human)4e-09body mass indexbody mass index (BMI) (CMO:0000105)143283613732836138Human
407067440GWAS716416_Hobsessive-compulsive disorder, attention deficit hyperactivity disorder, Tourette syndrome, unipolar depression, bipolar disorder, autism spectrum disorder, schizophrenia, anorexia nervosa QTL GWAS716416 (human)8e-09obsessive-compulsive disorder, attention deficit hyperactivity disorder, Tourette syndrome, unipolar depression, bipolar disorder, autism spectrum disorder, schizophrenia, anorexia nervosa143282557532825576Human
407285810GWAS934786_Htype 2 diabetes mellitus QTL GWAS934786 (human)5e-08type 2 diabetes mellitus143283433432834335Human
407163441GWAS812417_Hschizophrenia QTL GWAS812417 (human)2e-08schizophrenia143278870832788709Human
407296307GWAS945283_Hhigh density lipoprotein cholesterol measurement QTL GWAS945283 (human)2e-09high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)143270661632706617Human
406950455GWAS599431_Hbody mass index QTL GWAS599431 (human)0.000006body mass indexbody mass index (BMI) (CMO:0000105)143283367632833677Human
407291964GWAS940940_Halcohol consumption measurement QTL GWAS940940 (human)2e-17alcohol consumption measurementethanol drink intake rate (CMO:0001407)143269385032693851Human
407332666GWAS981642_Hhigh density lipoprotein cholesterol measurement QTL GWAS981642 (human)6e-09high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)143268691632686917Human
407295544GWAS944520_Hschizophrenia QTL GWAS944520 (human)0.000001schizophrenia143278870832788709Human
407102146GWAS751122_Hmathematical ability QTL GWAS751122 (human)4e-09mathematical ability143282353732823538Human
406887876GWAS536852_Hbody mass index QTL GWAS536852 (human)9e-09body mass indexbody mass index (BMI) (CMO:0000105)143283367632833677Human
407283650GWAS932626_HAlzheimer disease, gastroesophageal reflux disease QTL GWAS932626 (human)0.000008Alzheimer disease, gastroesophageal reflux disease143249024532490246Human
406924998GWAS573974_Hpulse pressure measurement QTL GWAS573974 (human)0.000004pulse pressure measurementpulse pressure (CMO:0000292)143259940232599403Human
407112396GWAS761372_Hmathematical ability QTL GWAS761372 (human)7e-18mathematical ability143282353732823538Human
407171788GWAS820764_Hcortical thickness QTL GWAS820764 (human)7e-11cortical thickness143282353732823538Human
407089107GWAS738083_Hatrial fibrillation QTL GWAS738083 (human)2e-17atrial fibrillation143251227832512279Human
407089106GWAS738082_Hatrial fibrillation QTL GWAS738082 (human)2e-21atrial fibrillation143251227832512279Human
407214550GWAS863526_HHypermetropia, Myopia QTL GWAS863526 (human)0.0000006Hypermetropia, Myopia143283613732836138Human
407329748GWAS978724_Hbody weight QTL GWAS978724 (human)7e-16body mass (VT:0001259)body weight (CMO:0000012)143282952532829526Human
407228370GWAS877346_Hbone density QTL GWAS877346 (human)1e-300bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)143237537432375375Human
407296222GWAS945198_Htype 2 diabetes mellitus QTL GWAS945198 (human)1e-11type 2 diabetes mellitus143283433432834335Human
407048666GWAS697642_Hperiodontitis QTL GWAS697642 (human)1e-08periodontitis143283367632833677Human
406983391GWAS632367_Hcoffee consumption measurement QTL GWAS632367 (human)2e-08coffee consumption measurement143260603732606038Human
407346661GWAS995637_Hattention deficit hyperactivity disorder, autism spectrum disorder, intelligence QTL GWAS995637 (human)1e-10attention deficit hyperactivity disorder, autism spectrum disorder, intelligence143280980432809805Human
407285733GWAS934709_Hatrial fibrillation QTL GWAS934709 (human)2e-19atrial fibrillation143251461132514612Human
407306722GWAS955698_Hbody mass index QTL GWAS955698 (human)3e-19body mass indexbody mass index (BMI) (CMO:0000105)143283367632833677Human
406945510GWAS594486_Hbody mass index QTL GWAS594486 (human)2e-22body mass indexbody mass index (BMI) (CMO:0000105)143282353732823538Human
406926828GWAS575804_Hhigh density lipoprotein cholesterol measurement QTL GWAS575804 (human)2e-08high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)143270661632706617Human
407178218GWAS827194_Hrefractive error, age at onset, Myopia QTL GWAS827194 (human)4e-10refractive error, age at onset, Myopia143283433432834335Human
407051507GWAS700483_Hchronic obstructive pulmonary disease QTL GWAS700483 (human)3e-10chronic obstructive pulmonary disease143244777432447775Human
406898931GWAS547907_Hphysical activity measurement, body mass index QTL GWAS547907 (human)7e-08physical activity measurement, body mass indexbody mass index (BMI) (CMO:0000105)143283367632833677Human
407110903GWAS759879_Hcognitive function measurement QTL GWAS759879 (human)5e-13cognitive function measurement143282353732823538Human
407199222GWAS848198_Hcleft lip QTL GWAS848198 (human)0.0000003cleft lip143259404232594043Human
407081463GWAS730439_Hintelligence QTL GWAS730439 (human)2e-12intelligence143282353732823538Human
407081462GWAS730438_Hintelligence QTL GWAS730438 (human)2e-09intelligence143280980432809805Human
407081461GWAS730437_Hintelligence QTL GWAS730437 (human)1e-10intelligence143283027632830277Human
406934779GWAS583755_Hadolescent idiopathic scoliosis QTL GWAS583755 (human)6e-09adolescent idiopathic scoliosis143233354932333550Human
407132408GWAS781384_Hschizophrenia QTL GWAS781384 (human)0.0000003schizophrenia143283433432834335Human
407404020GWAS1052996_Hurate measurement, bone density QTL GWAS1052996 (human)2e-08bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)143242813132428132Human
407175161GWAS824137_Hage at first sexual intercourse measurement QTL GWAS824137 (human)2e-08age at first sexual intercourse measurement143282961732829620Human
407217400GWAS866376_Htype 2 diabetes mellitus QTL GWAS866376 (human)1e-13type 2 diabetes mellitus143283367632833677Human
406990588GWAS639564_Hintelligence QTL GWAS639564 (human)2e-08intelligence143281302632813027Human
407054209GWAS703185_Hreaction time measurement QTL GWAS703185 (human)0.000004reaction time measurement143282432532824326Human
407309957GWAS958933_Hfat body mass QTL GWAS958933 (human)9e-17body fat mass (VT:0010482)total body fat mass (CMO:0000305)143283367632833677Human
406892419GWAS541395_Hphysical activity measurement, body mass index QTL GWAS541395 (human)0.000004physical activity measurement, body mass indexbody mass index (BMI) (CMO:0000105)143283367632833677Human
407061632GWAS710608_Hbody mass index, fasting blood insulin measurement QTL GWAS710608 (human)0.0000005body mass index, fasting blood insulin measurementblood insulin level (CMO:0000349)143273831632738317Human
407209606GWAS858582_Hcognitive function measurement QTL GWAS858582 (human)1e-08cognitive function measurement143282353732823538Human
406960516GWAS609492_Hautosomal dominant compelling helio-ophthalmic outburst syndrome QTL GWAS609492 (human)6e-16autosomal dominant compelling helio-ophthalmic outburst syndrome143266801432668015Human
407273091GWAS922067_Htype 2 diabetes mellitus QTL GWAS922067 (human)3e-16type 2 diabetes mellitus143283433432834335Human
407261824GWAS910800_Hschizophrenia QTL GWAS910800 (human)1e-13schizophrenia143283433432834335Human
406978698GWAS627674_Hintelligence QTL GWAS627674 (human)8e-10intelligence143280980432809805Human
407030155GWAS679131_Hbody mass index QTL GWAS679131 (human)5e-20body mass indexbody mass index (BMI) (CMO:0000105)143283433432834335Human
407251599GWAS900575_Hschizophrenia, intelligence, self reported educational attainment QTL GWAS900575 (human)3e-11schizophrenia, intelligence, self reported educational attainment143282353732823538Human
407062413GWAS711389_Hsystolic blood pressure, body mass index QTL GWAS711389 (human)5e-09systolic blood pressure, body mass indexbody mass index (BMI) (CMO:0000105)143283367632833677Human
406907794GWAS556770_Hbipolar disorder QTL GWAS556770 (human)0.000001bipolar disorder143274908732749088Human
406946707GWAS595683_Hintelligence QTL GWAS595683 (human)3e-13intelligence143282353732823538Human
407346847GWAS995823_Hattention deficit hyperactivity disorder, autism spectrum disorder, intelligence QTL GWAS995823 (human)4e-09attention deficit hyperactivity disorder, autism spectrum disorder, intelligence143283525432835255Human
407346846GWAS995822_Hattention deficit hyperactivity disorder, autism spectrum disorder, intelligence QTL GWAS995822 (human)5e-16attention deficit hyperactivity disorder, autism spectrum disorder, intelligence143283431132834312Human
406943387GWAS592363_Hresponse to cold QTL GWAS592363 (human)0.000006response to cold143254445132544452Human
407346845GWAS995821_Hattention deficit hyperactivity disorder, autism spectrum disorder, intelligence QTL GWAS995821 (human)5e-09attention deficit hyperactivity disorder, autism spectrum disorder, intelligence143282483632824837Human
407346844GWAS995820_Hattention deficit hyperactivity disorder, autism spectrum disorder, intelligence QTL GWAS995820 (human)2e-16attention deficit hyperactivity disorder, autism spectrum disorder, intelligence143282353732823538Human
407346843GWAS995819_Hattention deficit hyperactivity disorder, autism spectrum disorder, intelligence QTL GWAS995819 (human)8e-14attention deficit hyperactivity disorder, autism spectrum disorder, intelligence143281302632813027Human
406943388GWAS592364_Hresponse to cold QTL GWAS592364 (human)0.000006response to cold143254335032543351Human
406976924GWAS625900_Hcentral nervous system cancer, glioma QTL GWAS625900 (human)5e-11central nervous system cancer, glioma143278087532780876Human
407011484GWAS660460_Hrefractive error QTL GWAS660460 (human)2e-11refractive error143283433432834335Human
407208346GWAS857322_Hprostate carcinoma, type 2 diabetes mellitus QTL GWAS857322 (human)4e-09prostate carcinoma, type 2 diabetes mellitus143283367632833677Human
407146407GWAS795383_Hbody mass index QTL GWAS795383 (human)6e-08body mass indexbody mass index (BMI) (CMO:0000105)143283367632833677Human
407101094GWAS750070_Hmathematical ability QTL GWAS750070 (human)6e-15mathematical ability143282353732823538Human
407056559GWAS705535_Hintelligence QTL GWAS705535 (human)9e-10intelligence143280980432809805Human
406893230GWAS542206_Hphysical activity measurement, body mass index QTL GWAS542206 (human)3e-08Myopiabody mass index (BMI) (CMO:0000105)143283367632833677Human
406979763GWAS628739_Hintelligence QTL GWAS628739 (human)4e-11intelligence143283431132834312Human
407009457GWAS658433_HAbnormality of refraction QTL GWAS658433 (human)2e-33Abnormality of refraction143283433432834335Human
407056560GWAS705536_Hintelligence QTL GWAS705536 (human)5e-08intelligence143281980132819802Human
407249333GWAS898309_Hcomplement factor H-related protein 3 measurement QTL GWAS898309 (human)7e-08complement factor H-related protein 3 measurement143257385732573858Human
406899637GWAS548613_Hatrial fibrillation QTL GWAS548613 (human)5e-10atrial fibrillation143250563832505639Human
407051451GWAS700427_Heducational attainment QTL GWAS700427 (human)2e-09educational attainment143265733732657338Human
407115198GWAS764174_Hbody mass index QTL GWAS764174 (human)8e-21body mass indexbody mass index (BMI) (CMO:0000105)143282819232828193Human
407097279GWAS746255_Hbody mass index QTL GWAS746255 (human)1e-19body mass indexbody mass index (BMI) (CMO:0000105)143282353732823538Human
407051453GWAS700429_Heducational attainment QTL GWAS700429 (human)2e-29educational attainment143283367632833677Human
407051452GWAS700428_Heducational attainment QTL GWAS700428 (human)4e-08educational attainment143280457332804574Human

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

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2428 2788 2248 4947 1724 2344 4 622 1876 464 2268 7211 6386 52 3711 847 1733 1611 171 1

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

Ensembl Acc Id: ENST00000280979   ⟹   ENSP00000280979
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1432,329,298 - 32,837,684 (+)Ensembl
Ensembl Acc Id: ENST00000553547   ⟹   ENSP00000451239
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1432,473,757 - 32,546,449 (+)Ensembl
Ensembl Acc Id: ENST00000554410   ⟹   ENSP00000451246
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1432,494,271 - 32,545,455 (+)Ensembl
Ensembl Acc Id: ENST00000554449
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1432,433,164 - 32,439,032 (+)Ensembl
Ensembl Acc Id: ENST00000554740   ⟹   ENSP00000452109
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1432,735,851 - 32,774,001 (+)Ensembl
Ensembl Acc Id: ENST00000555207
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1432,616,967 - 32,773,791 (+)Ensembl
Ensembl Acc Id: ENST00000555950
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1432,616,978 - 32,732,765 (+)Ensembl
Ensembl Acc Id: ENST00000556037
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1432,329,350 - 32,433,982 (+)Ensembl
Ensembl Acc Id: ENST00000556540
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1432,733,262 - 32,773,829 (+)Ensembl
Ensembl Acc Id: ENST00000556638   ⟹   ENSP00000452204
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1432,495,072 - 32,545,520 (+)Ensembl
Ensembl Acc Id: ENST00000557102   ⟹   ENSP00000451146
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1432,329,349 - 32,433,817 (+)Ensembl
Ensembl Acc Id: ENST00000557272   ⟹   ENSP00000451247
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1432,329,400 - 32,830,817 (+)Ensembl
Ensembl Acc Id: ENST00000557354   ⟹   ENSP00000450531
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1432,329,344 - 32,734,613 (+)Ensembl
Ensembl Acc Id: ENST00000557396
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1432,693,401 - 32,732,584 (+)Ensembl
Ensembl 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  
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:
Ensembl Acc Id: ENSP00000452204   ⟸   ENST00000556638
Ensembl Acc Id: ENSP00000450531   ⟸   ENST00000557354
Ensembl Acc Id: ENSP00000451247   ⟸   ENST00000557272
Ensembl Acc Id: ENSP00000451146   ⟸   ENST00000557102
Ensembl Acc Id: ENSP00000280979   ⟸   ENST00000280979
Ensembl Acc Id: ENSP00000451239   ⟸   ENST00000553547
Ensembl Acc Id: ENSP00000451246   ⟸   ENST00000554410
Ensembl 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