 Gene Ontology Annotations | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Analyze GeneStrainQTL List |
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Molecular Function
Gene-Chemical Interaction Annotations
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Gene Ontology AnnotationsCellular Component
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Molecular Function
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References - curatedReferences - uncurated| PubMed | 12477932 14702039 15302935 17207965 17332742 18187620 19322201 20098747 20467437 21319273 21454576 21832049 21873635 22365833 23602568 24457600 24711643 24999758 25468996 25921289 26186194 26344197 26496610 26638075 26687479 27684187 28514442 29511261 29568061 30033366 30463901 30698747 |
Genomics
Comparative Map Data| ARGLU1 (Homo sapiens - human) |
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| Arglu1 (Mus musculus - house mouse) |
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| Arglu1 (Rattus norvegicus - Norway rat) |
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| Arglu1 (Chinchilla lanigera - long-tailed chinchilla) |
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| ARGLU1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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| ARGLU1 (Canis lupus familiaris - dog) |
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| Arglu1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| ARGLU1 (Sus scrofa - pig) |
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Position Markers| SHGC-84605 |
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| RH44738 |
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| D1S1423 |
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| D5S1597E |
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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_018011 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| XR_243043 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| GenBank Nucleotide | AA445997 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| AI623424 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK001016 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK303575 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK304751 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK309941 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AL442127 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC030508 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC050434 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC071587 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CH471085 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CR936748 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| DB482545 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
Reference Sequences
| RefSeq Acc Id: | NM_018011 ⟹ NP_060481 | ||||||||||||||||||||||||||||||||||
| RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||||||||||||
| Position: |
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| Sequence: |
GCATTGTGGGAAGGGCGGCCGGTGCAGCCGCAGCTGCCATCTTAGGGGCGCCTGGCGCTACGGGhide sequence |
| RefSeq Acc Id: | XR_243043 | ||||||||||||||
| RefSeq Status: | |||||||||||||||
| Type: | NON-CODING | ||||||||||||||
| Position: |
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| Sequence: |
ATTGTGGGAAGGGCGGCCGGTGCAGCCGCAGCTGCCATCTTAGGGGCGCCTGGCGCTACGGGTThide sequence |
Protein Sequences| Protein RefSeqs | NP_060481 | (Get FASTA) | NCBI Sequence Viewer |
| GenBank Protein | AAH50434 | (Get FASTA) | NCBI Sequence Viewer |
| AAH71587 | (Get FASTA) | NCBI Sequence Viewer | |
| BAA91467 | (Get FASTA) | NCBI Sequence Viewer | |
| BAG64595 | (Get FASTA) | NCBI Sequence Viewer | |
| BAG65508 | (Get FASTA) | NCBI Sequence Viewer | |
| EAX09086 | (Get FASTA) | NCBI Sequence Viewer | |
| EAX09087 | (Get FASTA) | NCBI Sequence Viewer | |
| Q9NWB6 | (Get FASTA) | NCBI Sequence Viewer |
Reference Sequences
| RefSeq Acc Id: | NP_060481 ⟸ NM_018011 |
| - UniProtKB: | Q9NWB6 (UniProtKB/Swiss-Prot), A0A024RDW4 (UniProtKB/TrEMBL) |
| - Sequence: |
MGRSRSRSSSRSKHTKSSKHNKKRSRSRSRSRDKERVRKRSKSRESKRNRRRESRSRSRSTNTAhide sequence |
Promoters| RGD ID: | 6791072 | |||||||||
| Promoter ID: | HG_KWN:18500 | |||||||||
| Type: | Non-CpG | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | MPROMDB | |||||||||
| Tissues & Cell Lines: | Lymphoblastoid | |||||||||
| Transcripts: | OTTHUMT00000045730 | |||||||||
| Position: |
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| RGD ID: | 6791071 | |||||||||
| Promoter ID: | HG_KWN:18502 | |||||||||
| Type: | CpG-Island | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | MPROMDB | |||||||||
| Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4 | |||||||||
| Transcripts: | ENST00000360629, ENST00000375928, ENST00000400198, OTTHUMT00000045729 | |||||||||
| Position: |
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| RGD ID: | 7226791 | |||||||||
| Promoter ID: | EPDNEW_H19141 | |||||||||
| Type: | initiation region | |||||||||
| Name: | ARGLU1_1 | |||||||||
| Description: | arginine and glutamate rich 1 | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | |||||||||
| Experiment Methods: | Single-end sequencing. | |||||||||
| Position: |
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Clinical Variants| Name | Type | Condition(s) | Position(s) | Clinical significance |
| GRCh38/hg38 13q33.2-34(chr13:104461586-114327173)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051448]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051448]|See cases [RCV000051448] | Chr13:104461586..114327173 [GRCh38] Chr13:105113936..115085141 [GRCh37] Chr13:103911937..114110750 [NCBI36] Chr13:13q33.2-34 |
pathogenic |
| GRCh38/hg38 13q33.2-34(chr13:104698508-114327173)x1 | copy number loss | Failure to thrive [RCV000051449]|See cases [RCV000051449] | Chr13:104698508..114327173 [GRCh38] Chr13:105350859..115085141 [GRCh37] Chr13:104148860..114110750 [NCBI36] Chr13:13q33.2-34 |
pathogenic |
| GRCh38/hg38 13q33.2-34(chr13:105571072-114327314)x1 | copy number loss | Nonprogressive encephalopathy [RCV000051450]|See cases [RCV000051450] | Chr13:105571072..114327314 [GRCh38] Chr13:106223421..115085141 [GRCh37] Chr13:105021422..114110891 [NCBI36] Chr13:13q33.2-34 |
pathogenic |
| GRCh38/hg38 13q33.2-34(chr13:106043720-110366226)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051451]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051451]|See cases [RCV000051451] | Chr13:106043720..110366226 [GRCh38] Chr13:106696069..111018573 [GRCh37] Chr13:105494070..109816574 [NCBI36] Chr13:13q33.2-34 |
pathogenic |
| GRCh38/hg38 13q31.1-34(chr13:82581008-114327173)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051380]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051380]|See cases [RCV000051380] | Chr13:82581008..114327173 [GRCh38] Chr13:83155143..115085141 [GRCh37] Chr13:82053144..114110750 [NCBI36] Chr13:13q31.1-34 |
pathogenic |
| GRCh38/hg38 13q31.3-34(chr13:91366227-114327314)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051418]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051418]|See cases [RCV000051418] | Chr13:91366227..114327314 [GRCh38] Chr13:92018481..115085141 [GRCh37] Chr13:90816482..114110891 [NCBI36] Chr13:13q31.3-34 |
pathogenic |
| GRCh38/hg38 13q32.3-34(chr13:101049614-114327314)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051421]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051421]|See cases [RCV000051421] | Chr13:101049614..114327314 [GRCh38] Chr13:101587036..115085141 [GRCh37] Chr13:100385037..114110891 [NCBI36] Chr13:13q32.3-34 |
pathogenic |
| GRCh38/hg38 13q33.1-34(chr13:101537045-114327173)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051422]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051422]|See cases [RCV000051422] | Chr13:101537045..114327173 [GRCh38] Chr13:102189396..115085141 [GRCh37] Chr13:100987397..114110750 [NCBI36] Chr13:13q33.1-34 |
pathogenic |
| GRCh38/hg38 13q33.1-34(chr13:102114025-114327173)x1 | copy number loss | Hydronephrosis [RCV000051423]|See cases [RCV000051423] | Chr13:102114025..114327173 [GRCh38] Chr13:102766375..115085141 [GRCh37] Chr13:101564376..114110750 [NCBI36] Chr13:13q33.1-34 |
pathogenic |
| GRCh38/hg38 13q33.2-34(chr13:106157165-114327173)x1 | copy number loss | Seizure [RCV000051180]|See cases [RCV000051180] | Chr13:106157165..114327173 [GRCh38] Chr13:106809514..115085141 [GRCh37] Chr13:105607515..114110750 [NCBI36] Chr13:13q33.2-34 |
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 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 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 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 13q32.3-34(chr13:99472316-114293545)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053792]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053792]|See cases [RCV000053792] | Chr13:99472316..114293545 [GRCh38] Chr13:100124570..115059020 [GRCh37] Chr13:98922571..114077122 [NCBI36] Chr13:13q32.3-34 |
pathogenic |
| GRCh38/hg38 13q14.11-34(chr13:43219125-114327314)x3 | copy number gain | Polydactyly [RCV000053762]|See cases [RCV000053762] | Chr13:43219125..114327314 [GRCh38] Chr13:43793261..115085141 [GRCh37] Chr13:42691261..114110891 [NCBI36] Chr13:13q14.11-34 |
pathogenic |
| GRCh38/hg38 13q32.3-34(chr13:100039860-114327173)x3 | copy number gain | Corpus callosum agenesis [RCV000053795]|See cases [RCV000053795] | Chr13:100039860..114327173 [GRCh38] Chr13:100692114..115085141 [GRCh37] Chr13:99490115..114110750 [NCBI36] Chr13:13q32.3-34 |
pathogenic |
| GRCh38/hg38 13q14.11-34(chr13:44164751-114327173)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053764]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053764]|See cases [RCV000053764] | Chr13:44164751..114327173 [GRCh38] Chr13:44738887..115085141 [GRCh37] Chr13:43636887..114110750 [NCBI36] Chr13:13q14.11-34 |
pathogenic |
| GRCh38/hg38 13q14.12-34(chr13:44733046-114327173)x3 | copy number gain | Nonsyndromic microcephaly [RCV000053767]|See cases [RCV000053767] | Chr13:44733046..114327173 [GRCh38] Chr13:45307182..115085141 [GRCh37] Chr13:44205182..114110750 [NCBI36] Chr13:13q14.12-34 |
pathogenic |
| GRCh38/hg38 13q22.1-34(chr13:74345951-114327314)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053770]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053770]|See cases [RCV000053770] | Chr13:74345951..114327314 [GRCh38] Chr13:74920088..115085141 [GRCh37] Chr13:73818089..114110891 [NCBI36] Chr13:13q22.1-34 |
pathogenic |
| GRCh38/hg38 13q31.1-34(chr13:80628584-114327173)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053772]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053772]|See cases [RCV000053772] | Chr13:80628584..114327173 [GRCh38] Chr13:81202719..115085141 [GRCh37] Chr13:80100720..114110750 [NCBI36] Chr13:13q31.1-34 |
pathogenic |
| GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3 | copy number gain | See cases [RCV000134104] | Chr13:19833130..114298614 [GRCh38] Chr13:20407270..115064089 [GRCh37] Chr13:19305270..114082191 [NCBI36] Chr13:13q12.11-34 |
pathogenic |
| GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1 | copy number loss | See cases [RCV000135610] | Chr13:18445862..114327173 [GRCh38] Chr13:19020001..115085141 [GRCh37] Chr13:10098739..114110750 [NCBI36] Chr13:13q11-34 |
pathogenic |
| GRCh38/hg38 13q31.2-34(chr13:88937651-114327173)x3 | copy number gain | See cases [RCV000137102] | Chr13:88937651..114327173 [GRCh38] Chr13:89589905..115085141 [GRCh37] Chr13:88387906..114110750 [NCBI36] Chr13:13q31.2-34 |
pathogenic |
| GRCh38/hg38 13q33.1-34(chr13:101868708-114293545)x3 | copy number gain | See cases [RCV000136805] | Chr13:101868708..114293545 [GRCh38] Chr13:102521058..115059020 [GRCh37] Chr13:101319059..114077122 [NCBI36] Chr13:13q33.1-34 |
pathogenic |
| GRCh38/hg38 13q31.3-33.3(chr13:93345058-109458154)x1 | copy number loss | See cases [RCV000136688] | Chr13:93345058..109458154 [GRCh38] Chr13:93997311..110110501 [GRCh37] Chr13:92795312..108908502 [NCBI36] Chr13:13q31.3-33.3 |
pathogenic |
| GRCh38/hg38 13q32.1-33.3(chr13:97213871-109162916)x1 | copy number loss | See cases [RCV000138024] | Chr13:97213871..109162916 [GRCh38] Chr13:97866125..109815264 [GRCh37] Chr13:96664126..108613265 [NCBI36] Chr13:13q32.1-33.3 |
pathogenic |
| GRCh38/hg38 13q33.1-34(chr13:102883322-114340331)x1 | copy number loss | See cases [RCV000137823] | Chr13:102883322..114340331 [GRCh38] Chr13:103535672..115085141 [GRCh37] Chr13:102333673..114123908 [NCBI36] Chr13:13q33.1-34 |
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 13q31.1-34(chr13:78999318-114327106)x3 | copy number gain | See cases [RCV000138742] | Chr13:78999318..114327106 [GRCh38] Chr13:79573453..115085141 [GRCh37] Chr13:78471454..114110683 [NCBI36] Chr13:13q31.1-34 |
pathogenic |
| GRCh38/hg38 13q31.1-34(chr13:86788927-114340331)x1 | copy number loss | See cases [RCV000138340] | Chr13:86788927..114340331 [GRCh38] Chr13:87441182..115085141 [GRCh37] Chr13:86239183..114123908 [NCBI36] Chr13:13q31.1-34 |
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 13q32.1-34(chr13:95744855-110863818)x3 | copy number gain | See cases [RCV000139021] | Chr13:95744855..110863818 [GRCh38] Chr13:96397109..111516165 [GRCh37] Chr13:95195110..110314166 [NCBI36] Chr13:13q32.1-34 |
pathogenic |
| GRCh38/hg38 13q32.1-34(chr13:96745059-114327106)x3 | copy number gain | See cases [RCV000139160] | Chr13:96745059..114327106 [GRCh38] Chr13:97397313..115085141 [GRCh37] Chr13:96195314..114110683 [NCBI36] Chr13:13q32.1-34 |
pathogenic |
| GRCh38/hg38 13q33.2-34(chr13:105861075-114342258)x1 | copy number loss | See cases [RCV000140449] | Chr13:105861075..114342258 [GRCh38] Chr13:106513424..115107733 [GRCh37] Chr13:105311425..114125835 [NCBI36] Chr13:13q33.2-34 |
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 13q33.1-34(chr13:101762788-114340285)x3 | copy number gain | See cases [RCV000141331] | Chr13:101762788..114340285 [GRCh38] Chr13:102415138..115105760 [GRCh37] Chr13:101213139..114123862 [NCBI36] Chr13:13q33.1-34 |
pathogenic |
| GRCh38/hg38 13q31.1-34(chr13:78964223-114340331)x3 | copy number gain | See cases [RCV000141248] | Chr13:78964223..114340331 [GRCh38] Chr13:79538358..115085141 [GRCh37] Chr13:78436359..114123908 [NCBI36] Chr13:13q31.1-34 |
pathogenic |
| GRCh38/hg38 13q31.1-34(chr13:83288131-114342258)x3 | copy number gain | See cases [RCV000141804] | Chr13:83288131..114342258 [GRCh38] Chr13:83862266..115107733 [GRCh37] Chr13:82760267..114125835 [NCBI36] Chr13:13q31.1-34 |
pathogenic |
| GRCh38/hg38 13q33.1-34(chr13:103914488-110857896)x3 | copy number gain | See cases [RCV000143101] | Chr13:103914488..110857896 [GRCh38] Chr13:104566838..111510243 [GRCh37] Chr13:103364839..110308244 [NCBI36] Chr13:13q33.1-34 |
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 13q33.2-34(chr13:104968135-114340331)x1 | copy number loss | See cases [RCV000143330] | Chr13:104968135..114340331 [GRCh38] Chr13:105620486..115085141 [GRCh37] Chr13:104418487..114123908 [NCBI36] Chr13:13q33.2-34 |
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 13q33.2-34(chr13:105423935-114342258)x3 | copy number gain | See cases [RCV000143556] | Chr13:105423935..114342258 [GRCh38] Chr13:106076284..115107733 [GRCh37] Chr13:104874285..114125835 [NCBI36] Chr13:13q33.2-34 |
uncertain significance |
| 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 13q31.2-34(chr13:89796110-115083342)x1 | copy number loss | See cases [RCV000240161] | Chr13:89796110..115083342 [GRCh37] Chr13:13q31.2-34 |
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 13q14.3-33.3(chr13:53551300-109850651)x1 | copy number loss | See cases [RCV000449272] | Chr13:53551300..109850651 [GRCh37] Chr13:13q14.3-33.3 |
pathogenic |
| GRCh37/hg19 13q21.2-34(chr13:61424168-115107733)x3 | copy number gain | See cases [RCV000449118] | Chr13:61424168..115107733 [GRCh37] Chr13:13q21.2-34 |
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 13q31.3-34(chr13:94269729-115107733)x3 | copy number gain | See cases [RCV000447545] | Chr13:94269729..115107733 [GRCh37] Chr13:13q31.3-34 |
pathogenic |
| GRCh37/hg19 13q33.2-34(chr13:106941499-113674752)x3 | copy number gain | See cases [RCV000447024] | Chr13:106941499..113674752 [GRCh37] Chr13:13q33.2-34 |
uncertain significance |
| GRCh37/hg19 13q31.1-34(chr13:82221361-115092569)x3 | copy number gain | See cases [RCV000447429] | Chr13:82221361..115092569 [GRCh37] Chr13:13q31.1-34 |
pathogenic |
| GRCh37/hg19 13q33.2-34(chr13:106450862-115107733)x1 | copy number loss | See cases [RCV000447192] | Chr13:106450862..115107733 [GRCh37] Chr13:13q33.2-34 |
pathogenic |
| GRCh37/hg19 13q32.3-34(chr13:101357397-115107733)x3 | copy number gain | See cases [RCV000447642] | Chr13:101357397..115107733 [GRCh37] Chr13:13q32.3-34 |
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 13q21.1-34(chr13:56431743-115107733) | copy number gain | See cases [RCV000510722] | Chr13:56431743..115107733 [GRCh37] Chr13:13q21.1-34 |
pathogenic |
| GRCh37/hg19 13q33.2-33.3(chr13:105620486-108955885)x1 | copy number loss | See cases [RCV000448018] | Chr13:105620486..108955885 [GRCh37] Chr13:13q33.2-33.3 |
pathogenic |
| GRCh37/hg19 13q31.2-34(chr13:88073140-115107733)x1 | copy number loss | See cases [RCV000448405] | Chr13:88073140..115107733 [GRCh37] Chr13:13q31.2-34 |
pathogenic |
| GRCh37/hg19 13q33.2-34(chr13:106056749-115107733)x1 | copy number loss | See cases [RCV000448783] | Chr13:106056749..115107733 [GRCh37] Chr13:13q33.2-34 |
pathogenic |
| GRCh37/hg19 13q33.1-34(chr13:103170306-115107733)x1 | copy number loss | See cases [RCV000512127] | Chr13:103170306..115107733 [GRCh37] Chr13:13q33.1-34 |
pathogenic |
| GRCh37/hg19 13q33.1-34(chr13:103880953-115107733)x1 | copy number loss | See cases [RCV000510433] | Chr13:103880953..115107733 [GRCh37] Chr13:13q33.1-34 |
pathogenic |
| GRCh37/hg19 13q11-34(chr13:19436287-115107733) | copy number gain | See cases [RCV000510405] | Chr13:19436287..115107733 [GRCh37] Chr13:13q11-34 |
pathogenic |
| GRCh37/hg19 13q31.3-34(chr13:94474530-115107733)x1 | copy number loss | See cases [RCV000510535] | Chr13:94474530..115107733 [GRCh37] Chr13:13q31.3-34 |
pathogenic |
| GRCh37/hg19 13q21.33-34(chr13:71871468-115107733)x4 | copy number gain | See cases [RCV000510281] | Chr13:71871468..115107733 [GRCh37] Chr13:13q21.33-34 |
pathogenic |
| GRCh37/hg19 13q31.1-34(chr13:80058840-115107733)x3 | copy number gain | See cases [RCV000510566] | Chr13:80058840..115107733 [GRCh37] Chr13:13q31.1-34 |
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 13q31.1-33.3(chr13:80572498-108719528)x1 | copy number loss | See cases [RCV000510890] | Chr13:80572498..108719528 [GRCh37] Chr13:13q31.1-33.3 |
pathogenic |
| GRCh37/hg19 13q32.1-34(chr13:96586481-115107733)x1 | copy number loss | See cases [RCV000512257] | Chr13:96586481..115107733 [GRCh37] Chr13:13q32.1-34 |
pathogenic |
| GRCh37/hg19 13q31.1-34(chr13:83435292-115107733)x3 | copy number gain | See cases [RCV000512605] | Chr13:83435292..115107733 [GRCh37] Chr13:13q31.1-34 |
pathogenic |
| GRCh37/hg19 13q31.1-34(chr13:85176519-115107733)x3 | copy number gain | See cases [RCV000512242] | Chr13:85176519..115107733 [GRCh37] Chr13:13q31.1-34 |
pathogenic |
| GRCh37/hg19 13q31.3-33.3(chr13:94703767-109731879)x1 | copy number loss | not provided [RCV000683570] | Chr13:94703767..109731879 [GRCh37] Chr13:13q31.3-33.3 |
pathogenic |
| GRCh37/hg19 13q22.3-34(chr13:78590089-115107733)x3 | copy number gain | not provided [RCV000683571] | Chr13:78590089..115107733 [GRCh37] Chr13:13q22.3-34 |
pathogenic |
| GRCh37/hg19 13q33.2-34(chr13:105389857-113467489)x1 | copy number loss | not provided [RCV000683567] | Chr13:105389857..113467489 [GRCh37] Chr13:13q33.2-34 |
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 13q32.3-34(chr13:101075864-115105020)x1 | copy number loss | not provided [RCV000738357] | Chr13:101075864..115105020 [GRCh37] Chr13:13q32.3-34 |
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 13q33.1-34(chr13:104539503-115103529)x1 | copy number loss | not provided [RCV000750890] | Chr13:104539503..115103529 [GRCh37] Chr13:13q33.1-34 |
pathogenic |
| GRCh37/hg19 13q33.1-34(chr13:101881803-115091330) | copy number gain | not provided [RCV000767821] | Chr13:101881803..115091330 [GRCh37] Chr13:13q33.1-34 |
pathogenic |
| GRCh37/hg19 13q33.2-33.3(chr13:106041198-107581224)x1 | copy number loss | not provided [RCV000849335] | Chr13:106041198..107581224 [GRCh37] Chr13:13q33.2-33.3 |
uncertain significance |
| GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 | copy number gain | not provided [RCV000849129] | Chr13:19436286..115107733 [GRCh37] Chr13:13q11-34 |
pathogenic |
| GRCh37/hg19 13q31.3-34(chr13:94849303-115107733)x3 | copy number gain | not provided [RCV000847710] | Chr13:94849303..115107733 [GRCh37] Chr13:13q31.3-34 |
uncertain significance |
| GRCh37/hg19 13q21.2-34(chr13:61775567-115107733)x3 | copy number gain | not provided [RCV000848025] | Chr13:61775567..115107733 [GRCh37] Chr13:13q21.2-34 |
pathogenic |
Additional Information
External Database Links| Database | Acc Id | Source(s) |
| AGR Gene | HGNC:25482 | AgrOrtholog |
| COSMIC | ARGLU1 | COSMIC |
| Ensembl Genes | ENSG00000134884 | ENTREZGENE, UniProtKB/Swiss-Prot |
| Ensembl Protein | ENSP00000383059 | ENTREZGENE, UniProtKB/Swiss-Prot |
| Ensembl Transcript | ENST00000400198 | ENTREZGENE, UniProtKB/Swiss-Prot |
| ENST00000472226 | ENTREZGENE | |
| GTEx | ENSG00000134884 | GTEx |
| HGNC ID | HGNC:25482 | ENTREZGENE |
| Human Proteome Map | ARGLU1 | Human Proteome Map |
| InterPro | ARGLU1 | UniProtKB/Swiss-Prot |
| KEGG Report | hsa:55082 | UniProtKB/Swiss-Prot |
| NCBI Gene | 55082 | ENTREZGENE |
| OMIM | 614046 | OMIM |
| PANTHER | PTHR31711 | UniProtKB/Swiss-Prot |
| Pfam | ARGLU | UniProtKB/Swiss-Prot |
| PharmGKB | PA162376869 | PharmGKB |
| UniGene | Hs.508644 | ENTREZGENE |
| UniProt | A0A024RDW4 | ENTREZGENE, UniProtKB/TrEMBL |
| ARGL1_HUMAN | UniProtKB/Swiss-Prot, ENTREZGENE | |
| UniProt Secondary | B4E0Y3 | UniProtKB/Swiss-Prot |
| Q5T257 | UniProtKB/Swiss-Prot | |
| Q6IQ34 | UniProtKB/Swiss-Prot |
 |
| More on ARGLU1 | |
|
Alliance Gene |
|
NCBI Gene |
|
Ensembl Gene |
|
|
JBrowse: hg19 hg38 |
|
HGNC Report |
|
NCBI Genome Data Viewer |
| CRRD Object Information | |
| CRRD ID: | 1605984 |
| Created: | 2007-04-28 |
| Species: | Homo sapiens |
| Last Modified: | 2019-11-26 |
| Status: | ACTIVE |
