 Gene-Chemical Interaction Annotations | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Gene Ontology AnnotationsMolecular Pathway AnnotationsPhenotype Annotations |
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Analyze GeneStrainQTL List |
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Gene Annotator (Annotation Comparison) |
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MOET (Multi-Ontology Enrichement) |
GOLF (Gene-Ortholog Location Finder) |
Gene Ontology AnnotationsMolecular Pathway AnnotationsPhenotype AnnotationsDisease Annotations
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Gene-Chemical Interaction Annotations
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Gene Ontology AnnotationsBiological Process
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Cellular Component
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Molecular Function
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Molecular Pathway Annotations
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Phenotype AnnotationsHuman Phenotype
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References - curated| 1. | Carnegie GK, etal., IUBMB Life. 2009 Apr;61(4):394-406. |
| 2. | Correa-RodrÃguez M, etal., Int J Med Sci. 2018 Jun 14;15(10):999-1004. doi: 10.7150/ijms.25369. eCollection 2018. |
| 3. | Garnis C, etal., Int J Cancer. 2005 Sep 20;116(5):813-9. doi: 10.1002/ijc.21065. |
| 4. | GOA_HUMAN data from the GO Consortium |
| 5. | Lester LB, etal., J Biol Chem 1996 Apr 19;271(16):9460-5. |
| 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. | Tasken K and Aandahl EM, Physiol Rev. 2004 Jan;84(1):137-67. |
| 9. | Yang L, etal., J Pharmacol Sci. 2008 Apr;106(4):578-84. Epub 2008 Apr 3. |
References - uncurated| PubMed | 9238861 9734811 10209101 10737800 10864471 11152471 11807172 11823486 12147701 12168954 12672969 14702039 15057823 16344560 17353931 18029348 19801982 21145461 21873635 21890631 22504420 23402259 23455922 23602568 23667531 24249740 25188285 26088133 26186194 26496610 26638075 26972000 27484798 28514442 29467281 29507755 29568061 |
Genomics
Comparative Map Data| AKAP11 (Homo sapiens - human) |
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| Akap11 (Mus musculus - house mouse) |
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| Akap11 (Rattus norvegicus - Norway rat) |
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| Akap11 (Chinchilla lanigera - long-tailed chinchilla) |
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| AKAP11 (Pan paniscus - bonobo/pygmy chimpanzee) |
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| AKAP11 (Canis lupus familiaris - dog) |
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| Akap11 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| AKAP11 (Sus scrofa - pig) |
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Position Markers| STS-H70800 |
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| RH92944 |
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| STS-Z40816 |
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| D16S325 |
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| D8S2279 |
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| D1S1425 |
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miRNA Target Status
Predicted Target Of
| 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. |
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Expression
Sequence
Nucleotide Sequences| RefSeq Transcripts | NM_016248 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| XM_005266247 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_005266248 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_005266249 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_005266250 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_011534903 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_011534904 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_011534905 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_011534906 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017020381 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017020382 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017020383 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| GenBank Nucleotide | AB014529 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| AF176555 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK002166 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK074384 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AL136527 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BE670178 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BE694434 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CH471075 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CR627087 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| DA780016 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
Reference Sequences
| RefSeq Acc Id: | NM_016248 ⟹ NP_057332 | ||||||||||||||||||||||||||||||||||
| RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||||||||||||
| Position: |
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| Sequence: |
GCTTGCTTGCCCGGCTCGCTCACGGGTCGTTGAGGCCGGTGACATGTCTGTGAGCTGCGGAGGChide sequence |
| RefSeq Acc Id: | XM_005266247 ⟹ XP_005266304 | ||||||||||||||
| RefSeq Status: | |||||||||||||||
| Type: | CODING | ||||||||||||||
| Position: |
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| Sequence: |
AGCTTGCTTGCCCGGCTCGCTCACGGGTCGTTGAGGCCGGTGACATGTCTGTGAGCTGCGGAGGhide sequence |
| RefSeq Acc Id: | XM_005266248 ⟹ XP_005266305 | ||||||||||||||
| RefSeq Status: | |||||||||||||||
| Type: | CODING | ||||||||||||||
| Position: |
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| Sequence: |
GGGCTGGGGGTCAGCGCGGGAGGGGGCCAGCTTGCTTGCCCGGCTCGCTCACGGGTCGTTGAGGhide sequence |
| RefSeq Acc Id: | XM_005266249 ⟹ XP_005266306 | ||||||||||||||
| RefSeq Status: | |||||||||||||||
| Type: | CODING | ||||||||||||||
| Position: |
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| Sequence: |
AGCTTGCTTGCCCGGCTCGCTCACGGGTCGTTGAGGCCGGTGACATGTCTGTGAGCTGCGGAGGhide sequence |
| RefSeq Acc Id: | XM_005266250 ⟹ XP_005266307 | ||||||||||||||
| RefSeq Status: | |||||||||||||||
| Type: | CODING | ||||||||||||||
| Position: |
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| Sequence: |
AGCTTGCTTGCCCGGCTCGCTCACGGGTCGTTGAGGCCGGTGACATGTCTGTGAGCTGCGGAGGhide sequence |
| RefSeq Acc Id: | XM_011534903 ⟹ XP_011533205 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
GTGGGAGGCGTGGAGAGTAGGCGGTGTTGCGGGCCGGAGCTGCGGCGGCGGCGGCGGCGGCGGAhide sequence |
| RefSeq Acc Id: | XM_011534904 ⟹ XP_011533206 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
AGAAAGGATGAGCCTTCCTTGGGCCTTCGGATCTGGTGGGGCTGCCACTTTGGGAAGGGCCCCGhide sequence |
| RefSeq Acc Id: | XM_011534905 ⟹ XP_011533207 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
AGCTTGCTTGCCCGGCTCGCTCACGGGTCGTTGAGGCCGGTGACATGTCTGTGAGCTGCGGAGGhide sequence |
| RefSeq Acc Id: | XM_011534906 ⟹ XP_011533208 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
ATGCTGGGAGAAGGGGCGGAGCCATCAGAAAGGATGAGCCTTCCTTGGGCCTTCGGATCTGGTGhide sequence |
| RefSeq Acc Id: | XM_017020381 ⟹ XP_016875870 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
TGCACTTTGTTCCCGAACAGCATCCTTCACTGTCAGACCCCCGGAGCCTTGGAAGCAGGCGCTGhide sequence |
| RefSeq Acc Id: | XM_017020382 ⟹ XP_016875871 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
CTGGGGGTCAGCGCGGGAGGGGGCCAGCTTGCTTGCCCGGCTCGCTCACGGGTCGTTGAGGCCGhide sequence |
| RefSeq Acc Id: | XM_017020383 ⟹ XP_016875872 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
GGGAGAAGGGGCGGAGCCATCAGAAAGGATGAGCCTTCCTTGGGCCTTCGGATCTGGTGGGGCThide sequence |
Protein Sequences| Protein RefSeqs | NP_057332 | (Get FASTA) | NCBI Sequence Viewer |
| XP_005266304 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_005266305 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_005266306 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_005266307 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_011533205 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_011533206 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_011533207 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_011533208 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016875870 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016875871 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016875872 | (Get FASTA) | NCBI Sequence Viewer | |
| GenBank Protein | AAF07045 | (Get FASTA) | NCBI Sequence Viewer |
| BAA31604 | (Get FASTA) | NCBI Sequence Viewer | |
| BAA92117 | (Get FASTA) | NCBI Sequence Viewer | |
| CAH10362 | (Get FASTA) | NCBI Sequence Viewer | |
| EAX08676 | (Get FASTA) | NCBI Sequence Viewer | |
| EAX08677 | (Get FASTA) | NCBI Sequence Viewer | |
| Q9UKA4 | (Get FASTA) | NCBI Sequence Viewer |
Reference Sequences
| RefSeq Acc Id: | NP_057332 ⟸ NM_016248 |
| - UniProtKB: | Q9UKA4 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MATFRNNHMKTKASVRKSFSEDVFQSVKSLLQSQKELCSVTAEDCLQQDEHANLTEVTFLGFNEhide sequence |
| RefSeq Acc Id: | XP_005266305 ⟸ XM_005266248 |
| - Peptide Label: | isoform X3 |
| - Sequence: |
MATFRNNHMKTKASVRKSFSEDVFQSVKSLLQSQKELCSVTAEDCLQQDEHANLTEVTFLGFNEhide sequence |
| RefSeq Acc Id: | XP_005266304 ⟸ XM_005266247 |
| - Peptide Label: | isoform X2 |
| - Sequence: |
MATFRNNHMKTKASVRKSFSEDVFQSVKSLLQSQKELCSVTAEDCLQQDEHANLTEVTFLGFNEhide sequence |
| RefSeq Acc Id: | XP_005266306 ⟸ XM_005266249 |
| - Peptide Label: | isoform X4 |
| - Sequence: |
MATFRNNHMKTKASVRKSFSEDVFQSVKSLLQSQKELCSVTAEDCLQQDEHANLTEVTFLGFNEhide sequence |
| RefSeq Acc Id: | XP_005266307 ⟸ XM_005266250 |
| - Peptide Label: | isoform X5 |
| - Sequence: |
MATFRNNHMKTKASVRKSFSEDVFQSVKSLLQSQKELCSVTAEDCLQQDEHANLTEVTFLGFNEhide sequence |
| RefSeq Acc Id: | XP_011533208 ⟸ XM_011534906 |
| - Peptide Label: | isoform X1 |
| - UniProtKB: | Q9UKA4 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MATFRNNHMKTKASVRKSFSEDVFQSVKSLLQSQKELCSVTAEDCLQQDEHANLTEVTFLGFNEhide sequence |
| RefSeq Acc Id: | XP_011533206 ⟸ XM_011534904 |
| - Peptide Label: | isoform X1 |
| - UniProtKB: | Q9UKA4 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MATFRNNHMKTKASVRKSFSEDVFQSVKSLLQSQKELCSVTAEDCLQQDEHANLTEVTFLGFNEhide sequence |
| RefSeq Acc Id: | XP_011533205 ⟸ XM_011534903 |
| - Peptide Label: | isoform X1 |
| - UniProtKB: | Q9UKA4 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MATFRNNHMKTKASVRKSFSEDVFQSVKSLLQSQKELCSVTAEDCLQQDEHANLTEVTFLGFNEhide sequence |
| RefSeq Acc Id: | XP_011533207 ⟸ XM_011534905 |
| - Peptide Label: | isoform X1 |
| - UniProtKB: | Q9UKA4 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MATFRNNHMKTKASVRKSFSEDVFQSVKSLLQSQKELCSVTAEDCLQQDEHANLTEVTFLGFNEhide sequence |
| RefSeq Acc Id: | XP_016875872 ⟸ XM_017020383 |
| - Peptide Label: | isoform X3 |
| - Sequence: |
MATFRNNHMKTKASVRKSFSEDVFQSVKSLLQSQKELCSVTAEDCLQQDEHANLTEVTFLGFNEhide sequence |
| RefSeq Acc Id: | XP_016875871 ⟸ XM_017020382 |
| - Peptide Label: | isoform X3 |
| - Sequence: |
MATFRNNHMKTKASVRKSFSEDVFQSVKSLLQSQKELCSVTAEDCLQQDEHANLTEVTFLGFNEhide sequence |
| RefSeq Acc Id: | XP_016875870 ⟸ XM_017020381 |
| - Peptide Label: | isoform X1 |
| - UniProtKB: | Q9UKA4 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MATFRNNHMKTKASVRKSFSEDVFQSVKSLLQSQKELCSVTAEDCLQQDEHANLTEVTFLGFNEhide sequence |
Promoters| RGD ID: | 6790790 | |||||||||
| Promoter ID: | HG_KWN:17689 | |||||||||
| Type: | CpG-Island | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | MPROMDB | |||||||||
| Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, K562, Lymphoblastoid, NB4 | |||||||||
| Transcripts: | ENST00000316176, NM_016248 | |||||||||
| Position: |
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| RGD ID: | 6810468 | |||||||||
| Promoter ID: | HG_ACW:20596 | |||||||||
| Type: | Non-CpG | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | MPROMDB | |||||||||
| Tissues & Cell Lines: | K562 | |||||||||
| Transcripts: | AKAP11.CAPR07, AKAP11.IAPR07 | |||||||||
| Position: |
|
| RGD ID: | 7226303 | |||||||||
| Promoter ID: | EPDNEW_H18896 | |||||||||
| Type: | initiation region | |||||||||
| Name: | AKAP11_3 | |||||||||
| Description: | A-kinase anchoring protein 11 | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | |||||||||
| Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | |||||||||
| Position: |
|
| RGD ID: | 7226301 | |||||||||
| Promoter ID: | EPDNEW_H18897 | |||||||||
| Type: | initiation region | |||||||||
| Name: | AKAP11_2 | |||||||||
| Description: | A-kinase anchoring protein 11 | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | |||||||||
| Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | |||||||||
| Position: |
|
| RGD ID: | 7226305 | |||||||||
| Promoter ID: | EPDNEW_H18898 | |||||||||
| Type: | initiation region | |||||||||
| Name: | AKAP11_1 | |||||||||
| Description: | A-kinase anchoring protein 11 | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | |||||||||
| Experiment Methods: | Single-end sequencing. | |||||||||
| Position: |
|
Clinical Variants| Name | Type | Condition(s) | Position(s) | Clinical significance |
| GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3 | copy number gain | Scoliosis [RCV000050293]|See cases [RCV000050293] | Chr13:31363472..90575292 [GRCh38] Chr13:31937609..91227546 [GRCh37] Chr13:30835609..90025547 [NCBI36] Chr13:13q12.3-31.3 |
pathogenic |
| GRCh38/hg38 13q12.3-21.33(chr13:30697728-69471973)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051373]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051373]|See cases [RCV000051373] | Chr13:30697728..69471973 [GRCh38] Chr13:31271865..70046105 [GRCh37] Chr13:30169865..68944106 [NCBI36] Chr13:13q12.3-21.33 |
pathogenic |
| GRCh38/hg38 13q13.3-14.2(chr13:38558617-47502862)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051377]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051377]|See cases [RCV000051377] | Chr13:38558617..47502862 [GRCh38] Chr13:39132754..48076997 [GRCh37] Chr13:38030754..46974998 [NCBI36] Chr13:13q13.3-14.2 |
pathogenic |
| GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053731]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053731]|See cases [RCV000053731] | Chr13:19837395..114327173 [GRCh38] Chr13:20411535..115085141 [GRCh37] Chr13:19309535..114110750 [NCBI36] Chr13:13q12.11-34 |
pathogenic |
| GRCh38/hg38 13q12.3-31.1(chr13:30318913-83610426)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053737]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053737]|See cases [RCV000053737] | Chr13:30318913..83610426 [GRCh38] Chr13:30893050..84184561 [GRCh37] Chr13:29791050..83082562 [NCBI36] Chr13:13q12.3-31.1 |
pathogenic |
| GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053719]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053719]|See cases [RCV000053719] | Chr13:18565048..114327173 [GRCh38] Chr13:19139188..115085141 [GRCh37] Chr13:18037188..114110750 [NCBI36] Chr13:13q11-34 |
pathogenic |
| GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3 | copy number gain | Premature Birth [RCV000053723]|See cases [RCV000053723] | Chr13:18850545..114327173 [GRCh38] Chr13:19296527..115085141 [GRCh37] Chr13:18194527..114110750 [NCBI36] Chr13:13q11-34 |
pathogenic |
| GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053726]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053726]|See cases [RCV000053726] | Chr13:18946182..114304628 [GRCh38] Chr13:19520322..115070103 [GRCh37] Chr13:18418322..114088205 [NCBI36] Chr13:13q12.11-34 |
pathogenic |
| GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053759]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053759]|See cases [RCV000053759] | Chr13:33528097..114327173 [GRCh38] Chr13:34102234..115085141 [GRCh37] Chr13:33000234..114110750 [NCBI36] Chr13:13q13.2-34 |
pathogenic |
| GRCh38/hg38 13q14.11(chr13:40799505-44006174)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053761]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053761]|See cases [RCV000053761] | Chr13:40799505..44006174 [GRCh38] Chr13:41373641..44580310 [GRCh37] Chr13:40271641..43478310 [NCBI36] Chr13:13q14.11 |
pathogenic |
| NM_016248.3(AKAP11):c.1628C>T (p.Ser543Phe) | single nucleotide variant | Malignant melanoma [RCV000070368] | Chr13:42300374 [GRCh38] Chr13:42874510 [GRCh37] Chr13:41772510 [NCBI36] Chr13:13q14.11 |
not provided |
| NM_016248.3(AKAP11):c.-100+614A>G | single nucleotide variant | Lung cancer [RCV000097911] | Chr13:42272842 [GRCh38] Chr13:42846978 [GRCh37] Chr13:13q14.11 |
uncertain significance |
| GRCh38/hg38 13q13.3-21.31(chr13:36777318-62955876)x1 | copy number loss | See cases [RCV000133696] | Chr13:36777318..62955876 [GRCh38] Chr13:37351455..63530009 [GRCh37] Chr13:36249455..62428010 [NCBI36] Chr13:13q13.3-21.31 |
pathogenic |
| GRCh38/hg38 13q14.11-31.1(chr13:41288493-85137552)x3 | copy number gain | See cases [RCV000133944] | Chr13:41288493..85137552 [GRCh38] Chr13:41862629..85711687 [GRCh37] Chr13:40760629..84609688 [NCBI36] Chr13:13q14.11-31.1 |
pathogenic |
| GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3 | copy number gain | See cases [RCV000134104] | Chr13:19833130..114298614 [GRCh38] Chr13:20407270..115064089 [GRCh37] Chr13:19305270..114082191 [NCBI36] Chr13:13q12.11-34 |
pathogenic |
| GRCh38/hg38 13q12.3-21.32(chr13:31553608-65470367)x3 | copy number gain | See cases [RCV000135808] | Chr13:31553608..65470367 [GRCh38] Chr13:32127745..66044499 [GRCh37] Chr13:31025745..64942500 [NCBI36] Chr13:13q12.3-21.32 |
pathogenic |
| GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1 | copy number loss | See cases [RCV000135610] | Chr13:18445862..114327173 [GRCh38] Chr13:19020001..115085141 [GRCh37] Chr13:10098739..114110750 [NCBI36] Chr13:13q11-34 |
pathogenic |
| GRCh38/hg38 13q14.11-31.1(chr13:41143820-85137552)x1 | copy number loss | See cases [RCV000136526] | Chr13:41143820..85137552 [GRCh38] Chr13:41717956..85711687 [GRCh37] Chr13:40615956..84609688 [NCBI36] Chr13:13q14.11-31.1 |
pathogenic |
| GRCh38/hg38 13q14.11-34(chr13:40942298-114340331)x1 | copy number loss | See cases [RCV000137893] | Chr13:40942298..114340331 [GRCh38] Chr13:41516434..115085141 [GRCh37] Chr13:40414434..114123908 [NCBI36] Chr13:13q14.11-34 |
pathogenic |
| GRCh38/hg38 13q12.3-14.2(chr13:31018160-48491204)x1 | copy number loss | See cases [RCV000138723] | Chr13:31018160..48491204 [GRCh38] Chr13:31592297..49065340 [GRCh37] Chr13:30490297..47963341 [NCBI36] Chr13:13q12.3-14.2 |
pathogenic |
| GRCh38/hg38 13q13.1-31.1(chr13:32531486-86757044)x3 | copy number gain | See cases [RCV000138339] | Chr13:32531486..86757044 [GRCh38] Chr13:33105623..87409299 [GRCh37] Chr13:32003623..86207300 [NCBI36] Chr13:13q13.1-31.1 |
pathogenic |
| GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3 | copy number gain | See cases [RCV000139078] | Chr13:19833130..114327106 [GRCh38] Chr13:20407270..115085141 [GRCh37] Chr13:19305270..114110683 [NCBI36] Chr13:13q12.11-34 |
pathogenic |
| GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3 | copy number gain | See cases [RCV000140004] | Chr13:18456040..114340285 [GRCh38] Chr13:19030180..115105760 [GRCh37] Chr13:17928180..114123862 [NCBI36] Chr13:13q11-34 |
pathogenic |
| GRCh38/hg38 13q13.3-21.32(chr13:37864226-67963788)x1 | copy number loss | See cases [RCV000140744] | Chr13:37864226..67963788 [GRCh38] Chr13:38438363..68537920 [GRCh37] Chr13:37336363..67435921 [NCBI36] Chr13:13q13.3-21.32 |
pathogenic |
| GRCh38/hg38 13q13.3-14.3(chr13:38514177-51425214)x1 | copy number loss | See cases [RCV000140788] | Chr13:38514177..51425214 [GRCh38] Chr13:39088314..51999350 [GRCh37] Chr13:37986314..50897351 [NCBI36] Chr13:13q13.3-14.3 |
pathogenic |
| GRCh38/hg38 13q14.11(chr13:39860568-43580405)x3 | copy number gain | See cases [RCV000142892] | Chr13:39860568..43580405 [GRCh38] Chr13:40434705..44154541 [GRCh37] Chr13:39332705..43052541 [NCBI36] Chr13:13q14.11 |
uncertain significance |
| GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3 | copy number gain | See cases [RCV000142924] | Chr13:19671934..114340331 [GRCh38] Chr13:20246074..115085141 [GRCh37] Chr13:19144074..114123908 [NCBI36] Chr13:13q12.11-34 |
pathogenic |
| GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3 | copy number gain | See cases [RCV000143462] | Chr13:18862146..114342258 [GRCh38] Chr13:19436286..115107733 [GRCh37] Chr13:18334286..114125835 [NCBI36] Chr13:13q11-34 |
pathogenic |
| GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3 | copy number gain | See cases [RCV000148244] | Chr13:31363472..90575292 [GRCh38] Chr13:31937609..91227546 [GRCh37] Chr13:30835609..90025547 [NCBI36] Chr13:13q12.3-31.3 |
pathogenic |
| GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 | copy number gain | See cases [RCV000148126] | Chr13:19837395..114327173 [GRCh38] Chr13:20411535..115085141 [GRCh37] Chr13:19309535..114110750 [NCBI36] Chr13:13q12.11-34 |
pathogenic |
| GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3 | copy number gain | See cases [RCV000240150] | Chr13:19571503..115092569 [GRCh37] Chr13:13q12.11-34 |
pathogenic |
| GRCh37/hg19 13q12.11-34(chr13:19571503-115092510) | copy number gain | See cases [RCV000449142] | Chr13:19571503..115092510 [GRCh37] Chr13:13q12.11-34 |
pathogenic |
| GRCh37/hg19 13q14.11-31.3(chr13:42457841-91796698)x1 | copy number loss | See cases [RCV000446747] | Chr13:42457841..91796698 [GRCh37] Chr13:13q14.11-31.3 |
pathogenic |
| GRCh37/hg19 13q13.1-21.31(chr13:32946120-62698217)x1 | copy number loss | See cases [RCV000446067] | Chr13:32946120..62698217 [GRCh37] Chr13:13q13.1-21.31 |
pathogenic |
| GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 | copy number gain | See cases [RCV000445886] | Chr13:19436286..115107733 [GRCh37] Chr13:13q11-34 |
pathogenic |
| GRCh37/hg19 13q11-34(chr13:19436287-115107733) | copy number gain | See cases [RCV000510405] | Chr13:19436287..115107733 [GRCh37] Chr13:13q11-34 |
pathogenic |
| GRCh37/hg19 13q11-34(chr13:19436287-115107733)x3 | copy number gain | See cases [RCV000511880] | Chr13:19436287..115107733 [GRCh37] Chr13:13q11-34 |
pathogenic |
| GRCh37/hg19 13q11-22.1(chr13:19436286-74045459)x3 | copy number gain | not provided [RCV000683572] | Chr13:19436286..74045459 [GRCh37] Chr13:13q11-22.1 |
pathogenic |
| GRCh37/hg19 13q11-34(chr13:19058717-115103529)x3 | copy number gain | not provided [RCV000738115] | Chr13:19058717..115103529 [GRCh37] Chr13:13q11-34 |
pathogenic |
| GRCh37/hg19 13q11-34(chr13:19031237-115107157)x3 | copy number gain | not provided [RCV000750643] | Chr13:19031237..115107157 [GRCh37] Chr13:13q11-34 |
pathogenic |
| GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 | copy number gain | not provided [RCV000849129] | Chr13:19436286..115107733 [GRCh37] Chr13:13q11-34 |
pathogenic |
Additional Information
External Database Links| Database | Acc Id | Source(s) |
| AGR Gene | HGNC:369 | AgrOrtholog |
| COSMIC | AKAP11 | COSMIC |
| Ensembl Genes | ENSG00000023516 | ENTREZGENE, UniProtKB/Swiss-Prot |
| Ensembl Protein | ENSP00000025301 | ENTREZGENE, UniProtKB/Swiss-Prot |
| Ensembl Transcript | ENST00000025301 | ENTREZGENE, UniProtKB/Swiss-Prot |
| GTEx | ENSG00000023516 | GTEx |
| HGNC ID | HGNC:369 | ENTREZGENE |
| Human Proteome Map | AKAP11 | Human Proteome Map |
| InterPro | SPHK1-interactor_AKAP_110 | UniProtKB/Swiss-Prot |
| KEGG Report | hsa:11215 | UniProtKB/Swiss-Prot |
| NCBI Gene | 11215 | ENTREZGENE |
| OMIM | 604696 | OMIM |
| PANTHER | PTHR10226 | UniProtKB/Swiss-Prot |
| PharmGKB | PA24663 | PharmGKB |
| UniGene | Hs.105105 | ENTREZGENE |
| UniProt | AKA11_HUMAN | UniProtKB/Swiss-Prot, ENTREZGENE |
| UniProt Secondary | O75124 | UniProtKB/Swiss-Prot |
| Q9NUK7 | UniProtKB/Swiss-Prot |
Nomenclature History| Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
|---|---|---|---|---|---|---|---|
| 2015-11-24 | AKAP11 | A-kinase anchoring protein 11 | A kinase (PRKA) anchor protein 11 | Symbol and/or name change | 5135510 | APPROVED | |
| 2011-09-01 | AKAP11 | A kinase (PRKA) anchor protein 11 | AKAP11 | A kinase (PRKA) anchor protein 11 | Symbol and/or name change | 5135510 | APPROVED |
 |
| More on AKAP11 | |
|
Alliance Gene |
|
NCBI Gene |
|
Ensembl Gene |
|
|
JBrowse: hg19 hg38 |
|
HGNC Report |
|
NCBI Genome Data Viewer |
| CRRD Object Information | |
| CRRD ID: | 736276 |
| Created: | 2004-02-06 |
| Species: | Homo sapiens |
| Last Modified: | 2019-11-26 |
| Status: | ACTIVE |
