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Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | intellectual disability | | IAGP | RGD:39456462 | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | | |
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Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | intellectual disability | | IAGP | RGD:39456462 | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | | |
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1. | Carnegie GK, etal., IUBMB Life. 2009 Apr;61(4):394-406. |
2. | Dodge KL, etal., EMBO J 2001 Apr 17;20(8):1921-30. |
3. | Earp M, etal., PLoS One. 2018 Jul 6;13(7):e0197561. doi: 10.1371/journal.pone.0197561. eCollection 2018. |
4. | GOA_HUMAN data from the GO Consortium |
5. | Kritzer MD, etal., Circ Heart Fail. 2014 Jul;7(4):663-72. doi: 10.1161/CIRCHEARTFAILURE.114.001266. Epub 2014 May 8. |
6. | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
7. | RGD automated import pipeline for gene-chemical interactions |
8. | Rohman MS, etal., Biochem Biophys Res Commun. 2003 Oct 10;310(1):228-35. |
9. | Tasken K and Aandahl EM, Physiol Rev. 2004 Jan;84(1):137-67. |
10. | Wang K, etal., Mol Psychiatry. 2011 Sep;16(9):949-59. doi: 10.1038/mp.2010.107. Epub 2010 Nov 16. |
11. | Wilhelm T, etal., Epigenetics. 2016;11(2):110-9. doi: 10.1080/15592294.2016.1145327. Epub 2016 Feb 18. |
12. | Zan L, etal., Neurochem Int. 2011 Jul;58(8):872-9. doi: 10.1016/j.neuint.2011.02.014. Epub 2011 Feb 18. |
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 |
AKAP6 (Homo sapiens - human) |
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Akap6 (Mus musculus - house mouse) |
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Akap6 (Rattus norvegicus - Norway rat) |
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Akap6 (Chinchilla lanigera - long-tailed chinchilla) |
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AKAP6 (Pan paniscus - bonobo/pygmy chimpanzee) |
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AKAP6 (Canis lupus familiaris - dog) |
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Akap6 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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AKAP6 (Sus scrofa - pig) |
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Akap6 (Heterocephalus glaber - naked mole-rat) |
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D14S121 |
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G36054 |
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L18177 |
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WI-14096 |
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RH91259 |
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SHGC-82243 |
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RH123413 |
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D14S717E |
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RH45526 |
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SHGC-37333 |
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D14S1236 |
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RH69589 |
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G17798 |
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AKAP6__4280 |
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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. |
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 |
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 | |
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 | |
KF455853 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
U17195 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENST00000280979 ⟹ ENSP00000280979 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000553547 ⟹ ENSP00000451239 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000554410 ⟹ ENSP00000451246 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000554449 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000554740 ⟹ ENSP00000452109 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000555207 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000555950 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000556037 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000556540 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000556638 ⟹ ENSP00000452204 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000557102 ⟹ ENSP00000451146 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000557272 ⟹ ENSP00000451247 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000557354 ⟹ ENSP00000450531 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000557396 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000557708 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_004274 ⟹ NP_004265 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_011537378 ⟹ XP_011535680 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_011537379 ⟹ XP_011535681 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_011537383 ⟹ XP_011535685 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_017021808 ⟹ XP_016877297 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_017021811 ⟹ XP_016877300 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_024449754 ⟹ XP_024305522 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_024449755 ⟹ XP_024305523 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_024449756 ⟹ XP_024305524 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_024449757 ⟹ XP_024305525 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
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_016877300 | (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 | |
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 | |
Q13023 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_004265 ⟸ NM_004274 |
- UniProtKB: | Q13023 (UniProtKB/Swiss-Prot), B2RP22 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_011535681 ⟸ XM_011537379 |
- Peptide Label: | isoform X3 |
- Sequence: |
RefSeq Acc Id: | XP_011535680 ⟸ XM_011537378 |
- Peptide Label: | isoform X2 |
- Sequence: |
RefSeq Acc Id: | XP_011535685 ⟸ XM_011537383 |
- Peptide Label: | isoform X4 |
- Sequence: |
RefSeq Acc Id: | XP_016877297 ⟸ XM_017021808 |
- Peptide Label: | isoform X1 |
- Sequence: |
RefSeq Acc Id: | XP_016877300 ⟸ XM_017021811 |
- Peptide Label: | isoform X2 |
- 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 |
RGD ID: | 7227385 | ||||||||
Promoter ID: | EPDNEW_H19438 | ||||||||
Type: | initiation region | ||||||||
Name: | AKAP6_2 | ||||||||
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_H19439 | ||||||||
Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | ||||||||
Position: |
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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: |
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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 |
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 |
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.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 |
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 |
Database | Acc Id | Source(s) |
AGR Gene | HGNC:376 | AgrOrtholog |
COSMIC | AKAP6 | COSMIC |
Ensembl Genes | ENSG00000151320 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Protein | ENSP00000280979 | ENTREZGENE, UniProtKB/Swiss-Prot |
ENSP00000450531 | UniProtKB/Swiss-Prot | |
ENSP00000451146 | UniProtKB/TrEMBL | |
ENSP00000451239 | UniProtKB/TrEMBL | |
ENSP00000451246 | UniProtKB/TrEMBL | |
ENSP00000451247 | UniProtKB/TrEMBL | |
ENSP00000452109 | UniProtKB/TrEMBL | |
ENSP00000452204 | UniProtKB/TrEMBL | |
Ensembl Transcript | ENST00000280979 | ENTREZGENE, UniProtKB/Swiss-Prot |
ENST00000553547 | UniProtKB/TrEMBL | |
ENST00000554410 | UniProtKB/TrEMBL | |
ENST00000554740 | UniProtKB/TrEMBL | |
ENST00000556638 | UniProtKB/TrEMBL | |
ENST00000557102 | UniProtKB/TrEMBL | |
ENST00000557272 | UniProtKB/TrEMBL | |
ENST00000557354 | UniProtKB/Swiss-Prot | |
GTEx | ENSG00000151320 | GTEx |
HGNC ID | HGNC:376 | ENTREZGENE |
Human Proteome Map | AKAP6 | Human Proteome Map |
InterPro | Spectrin/alpha-actinin | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Spectrin_repeat | UniProtKB/TrEMBL | |
KEGG Report | hsa:9472 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
NCBI Gene | 9472 | ENTREZGENE |
OMIM | 604691 | OMIM |
Pfam | Spectrin | UniProtKB/TrEMBL |
PharmGKB | PA24670 | PharmGKB |
SMART | SPEC | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
UniProt | AKAP6_HUMAN | UniProtKB/Swiss-Prot |
B2RP22 | ENTREZGENE, UniProtKB/TrEMBL | |
D3DS91_HUMAN | 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 | |
Q13023 | ENTREZGENE | |
UniProt Secondary | A7E242 | UniProtKB/Swiss-Prot |
A7E2D4 | UniProtKB/Swiss-Prot | |
O15028 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2015-11-24 | AKAP6 | A-kinase anchoring protein 6 | A kinase (PRKA) anchor protein 6 | Symbol and/or name change | 5135510 | APPROVED | |
2011-09-01 | AKAP6 | A kinase (PRKA) anchor protein 6 | AKAP6 | A kinase (PRKA) anchor protein 6 | Symbol and/or name change | 5135510 | APPROVED |