 Gene-Chemical Interaction Annotations | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Gene Ontology AnnotationsMolecular Pathway Annotations |
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Gene Ontology AnnotationsMolecular Pathway 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 AnnotationsReferences - curated| 1. | GOA_HUMAN data from the GO Consortium |
| 2. | Pipeline to import KEGG annotations from KEGG into RGD |
| 3. | RGD automated import pipeline for gene-chemical interactions |
References - uncurated| PubMed | 10445024 12477932 12665801 12746458 14676191 14761955 15018354 15133482 15146197 15340069 15342556 15346769 15489334 15592455 16501598 16964243 17420470 17435760 17466273 18358234 18818696 19305138 19398558 19615732 19875381 20126976 20213445 20360068 20404110 20467437 21113133 21566117 21864708 21873635 21988832 22261722 22286152 22623728 22863883 22869522 22939629 22990118 23184943 23440515 23752268 23824909 23935490 24145035 24255178 24366813 25036637 25281560 25324306 25499913 25544563 25817432 25921289 26186194 26344197 26496610 26545799 26638075 26972000 27249023 27432908 27591049 27591899 27684187 27880917 28330616 28443643 28514442 28581483 28696259 28816574 28846114 28883622 29229926 29426014 29467282 30656909 |
Genomics
Comparative Map Data| SUGT1 (Homo sapiens - human) |
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| Sugt1 (Mus musculus - house mouse) |
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| Sugt1 (Rattus norvegicus - Norway rat) |
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| Sugt1 (Chinchilla lanigera - long-tailed chinchilla) |
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| SUGT1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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| SUGT1 (Canis lupus familiaris - dog) |
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| Sugt1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| SUGT1 (Sus scrofa - pig) |
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Position Markers| RH78334 |
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| SHGC-58486 |
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| SUGT1_9192 |
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| 1342 |
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| G42926 |
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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 | NG_029521 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| NM_001130912 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001320831 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_006704 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_011534891 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_011534893 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017020365 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017020366 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017020367 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017020368 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| GenBank Nucleotide | AF132856 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| AJ344097 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK291402 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK292128 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK302363 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AL139089 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AY271314 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AY321358 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC000911 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BP225371 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BT009798 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CH471124 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CN345940 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
Reference Sequences
| RefSeq Acc Id: | NM_001130912 ⟹ NP_001124384 | ||||||||||||||||||||||||
| RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||
| Position: |
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| Sequence: |
GGGTCCTGGGCCGGGGTGCGGCTGGGAGGAATCGGTCCTCCACTGTCCCAGCCGGCCCCGCGCChide sequence |
| RefSeq Acc Id: | NM_001320831 ⟹ NP_001307760 | ||||||||||||||
| RefSeq Status: | REVIEWED | ||||||||||||||
| Type: | CODING | ||||||||||||||
| Position: |
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| Sequence: |
GGGTCCTGGGCCGGGGTGCGGCTGGGAGGAATCGGTCCTCCACTGTCCCAGCCGGCCCCGCGCChide sequence |
| RefSeq Acc Id: | NM_006704 ⟹ NP_006695 | |||||||||||||||||||||||||||||
| RefSeq Status: | REVIEWED | |||||||||||||||||||||||||||||
| Type: | CODING | |||||||||||||||||||||||||||||
| Position: |
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| Sequence: |
GGGTCCTGGGCCGGGGTGCGGCTGGGAGGAATCGGTCCTCCACTGTCCCAGCCGGCCCCGCGCChide sequence |
| RefSeq Acc Id: | XM_011534891 ⟹ XP_011533193 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
TCCACTGTCCCAGCCGGCCCCGCGCCGGCGTGTCGCCTCCCGTCCCCCTAGCAGCACGCTGCGThide sequence |
| RefSeq Acc Id: | XM_011534893 ⟹ XP_011533195 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
CTGTCCCAGCCGGCCCCGCGCCGGCGTGTCGCCTCCCGTCCCCCTAGCAGCACGCTGCGTGGCThide sequence |
| RefSeq Acc Id: | XM_017020365 ⟹ XP_016875854 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
GGGGTGCGGCTGGGAGGAATCGGTCCTCCACTGTCCCAGCCGGCCCCGCGCCGGCGTGTCGCCThide sequence |
| RefSeq Acc Id: | XM_017020366 ⟹ XP_016875855 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
GTTTCCCCCTTGGGCGGTGGTGGAGGTGGTAACCGTGATAGTAGCAGCTCCGGCGGCAGCAACAhide sequence |
| RefSeq Acc Id: | XM_017020367 ⟹ XP_016875856 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
AGCTGGGCCACTTCGGGTCCCCGCTGACCCGCCTTCTCCCCGCACCGCCGGACAGGGACCCAGGhide sequence |
| RefSeq Acc Id: | XM_017020368 ⟹ XP_016875857 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
CGAGGGATGGCGGCGGCTGCAGCAGGAACTGCAACATCCCAGAGGTTTTTCCAGAGCTTCTCGGhide sequence |
Protein Sequences| Protein RefSeqs | NP_001124384 | (Get FASTA) | NCBI Sequence Viewer |
| NP_001307760 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_006695 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_011533193 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_011533195 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016875854 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016875855 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016875856 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016875857 | (Get FASTA) | NCBI Sequence Viewer | |
| GenBank Protein | AAD30062 | (Get FASTA) | NCBI Sequence Viewer |
| AAH00911 | (Get FASTA) | NCBI Sequence Viewer | |
| AAP88800 | (Get FASTA) | NCBI Sequence Viewer | |
| AAQ01749 | (Get FASTA) | NCBI Sequence Viewer | |
| AAQ76039 | (Get FASTA) | NCBI Sequence Viewer | |
| BAF84091 | (Get FASTA) | NCBI Sequence Viewer | |
| BAF84817 | (Get FASTA) | NCBI Sequence Viewer | |
| BAG63688 | (Get FASTA) | NCBI Sequence Viewer | |
| CAC51433 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW52043 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW52044 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW52045 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW52046 | (Get FASTA) | NCBI Sequence Viewer | |
| Q9Y2Z0 | (Get FASTA) | NCBI Sequence Viewer |
Reference Sequences
| RefSeq Acc Id: | NP_001124384 ⟸ NM_001130912 |
| - Peptide Label: | isoform B |
| - UniProtKB: | Q9Y2Z0 (UniProtKB/Swiss-Prot), A8K7W3 (UniProtKB/TrEMBL) |
| - Sequence: |
MAAAAAGTATSQRFFQSFSDALIDEDPQAALEELTKALEQKPDDAQYYCQRAYCHILLGNYCVAhide sequence |
| RefSeq Acc Id: | NP_006695 ⟸ NM_006704 |
| - Peptide Label: | isoform A |
| - UniProtKB: | Q9Y2Z0 (UniProtKB/Swiss-Prot), A8K7W3 (UniProtKB/TrEMBL) |
| - Sequence: |
MAAAAAGTATSQRFFQSFSDALIDEDPQAALEELTKALEQKPDDAQYYCQRAYCHILLGNYCVAhide sequence |
| RefSeq Acc Id: | XP_011533193 ⟸ XM_011534891 |
| - Peptide Label: | isoform X3 |
| - Sequence: |
MLRKGICEYHEKNYAAALETFTEGQKLDIETGFHRVGQAGLQLLTSSDPPALDSQSAGITGADAhide sequence |
| RefSeq Acc Id: | XP_011533195 ⟸ XM_011534893 |
| - Peptide Label: | isoform X5 |
| - Sequence: |
MLRKGICEYHEKNYAAALETFTEGQKLDSADANFSVWIKRCQEAQNGSESEVWTHQSKIKYDWYhide sequence |
| RefSeq Acc Id: | NP_001307760 ⟸ NM_001320831 |
| - Peptide Label: | isoform C |
| - UniProtKB: | Q9Y2Z0 (UniProtKB/Swiss-Prot), A8K7W3 (UniProtKB/TrEMBL), B4DYC6 (UniProtKB/TrEMBL) |
| - Sequence: |
MLSQKEVAVADAKKSLELNPNNSTAMLRKGICEYHEKNYAAALETFTEGQKLDSADANFSVWIKhide sequence |
| RefSeq Acc Id: | XP_016875854 ⟸ XM_017020365 |
| - Peptide Label: | isoform X1 |
| - Sequence: |
MAAAAAGTATSQRFFQSFSDALIDEDPQAALEELTKALEQKPDDAQYYCQRAYCHILLGNYCVAhide sequence |
| RefSeq Acc Id: | XP_016875857 ⟸ XM_017020368 |
| - Peptide Label: | isoform X4 |
| - Sequence: |
MLRKGICEYHEKNYAAALETFTEGQKLDKTGFHRVGQAGLQLLTSSDPPALDSQSAGITGADANhide sequence |
| RefSeq Acc Id: | XP_016875855 ⟸ XM_017020366 |
| - Peptide Label: | isoform X2 |
| - Sequence: |
MLSQKEVAVADAKKSLELNPNNSTAMLRKGICEYHEKNYAAALETFTEGQKLDIETGFHRVGQAhide sequence |
| RefSeq Acc Id: | XP_016875856 ⟸ XM_017020367 |
| - Peptide Label: | isoform X2 |
| - Sequence: |
MLSQKEVAVADAKKSLELNPNNSTAMLRKGICEYHEKNYAAALETFTEGQKLDIETGFHRVGQAhide sequence |
Promoters| RGD ID: | 6791145 | |||||||||
| Promoter ID: | HG_KWN:17970 | |||||||||
| 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: | NM_001130912, NM_006704, OTTHUMT00000045106, UC001VHA.1, UC001VHD.1 | |||||||||
| Position: |
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| RGD ID: | 7226529 | |||||||||
| Promoter ID: | EPDNEW_H19009 | |||||||||
| Type: | initiation region | |||||||||
| Name: | SUGT1_1 | |||||||||
| Description: | SGT1 homolog, MIS12 kinetochore complex assembly cochaperone | |||||||||
| 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 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 13q14.12-31.3(chr13:44967523-92738168)x1 | copy number loss | Omphalocele [RCV000050891]|See cases [RCV000050891] | Chr13:44967523..92738168 [GRCh38] Chr13:45541658..93390421 [GRCh37] Chr13:44439658..92188422 [NCBI36] Chr13:13q14.12-31.3 |
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 13q14.3(chr13:52598879-53101818)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052007]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052007]|See cases [RCV000052007] | Chr13:52598879..53101818 [GRCh38] Chr13:53173014..53675953 [GRCh37] Chr13:52071015..52573954 [NCBI36] Chr13:13q14.3 |
uncertain significance |
| 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 13q14.11-34(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 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 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 13q14.3(chr13:52381559-54493354)x3 | copy number gain | See cases [RCV000134421] | Chr13:52381559..54493354 [GRCh38] Chr13:52955694..55067489 [GRCh37] Chr13:51853695..53965490 [NCBI36] Chr13:13q14.3 |
uncertain significance |
| 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 13q14.2-31.1(chr13:47117587-84300935)x1 | copy number loss | See cases [RCV000136647] | Chr13:47117587..84300935 [GRCh38] Chr13:47691722..84875070 [GRCh37] Chr13:46589723..83773071 [NCBI36] Chr13:13q14.2-31.1 |
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 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 13q14.2-21.31(chr13:47765202-62058520)x1 | copy number loss | See cases [RCV000142223] | Chr13:47765202..62058520 [GRCh38] Chr13:48339337..62632653 [GRCh37] Chr13:47237338..61530654 [NCBI36] Chr13:13q14.2-21.31 |
pathogenic |
| 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 13q14.3(chr13:53191674-53307458)x3 | copy number gain | See cases [RCV000445822] | Chr13:53191674..53307458 [GRCh37] Chr13:13q14.3 |
uncertain significance |
| GRCh37/hg19 13q11-34(chr13:19436287-115107733) | copy number gain | See cases [RCV000510405] | Chr13:19436287..115107733 [GRCh37] Chr13:13q11-34 |
pathogenic |
| GRCh37/hg19 13q14.3(chr13:51786657-54834098)x1 | copy number loss | not provided [RCV000509218] | Chr13:51786657..54834098 [GRCh37] Chr13:13q14.3 |
not provided |
| GRCh37/hg19 13q11-34(chr13:19436287-115107733)x3 | copy number gain | See cases [RCV000511880] | Chr13:19436287..115107733 [GRCh37] Chr13:13q11-34 |
pathogenic |
| Single allele | deletion | Intellectual disability [RCV000684766] | Chr13:48225451..58070399 [GRCh37] Chr13:13q14.2-21.1 |
likely pathogenic |
| GRCh37/hg19 13q14.3-21.32(chr13:51939350-66854666)x3 | copy number gain | not provided [RCV000683569] | Chr13:51939350..66854666 [GRCh37] Chr13:13q14.3-21.32 |
likely 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 |
| NC_000013.11:g.46968080_87381985del40413906 | deletion | 13q partial monosomy syndrome [RCV000721955] | Chr13:46968080..87381985 [GRCh38] Chr13:13q14.2-31.2 |
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 13q14.2-21.2(chr13:49586017-61311845)x1 | copy number loss | not provided [RCV000846575] | Chr13:49586017..61311845 [GRCh37] Chr13:13q14.2-21.2 |
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 13q14.3(chr13:53157304-53302648)x3 | copy number gain | not provided [RCV000849683] | Chr13:53157304..53302648 [GRCh37] Chr13:13q14.3 |
uncertain significance |
| GRCh37/hg19 13q14.3(chr13:52538548-53354011)x3 | copy number gain | not provided [RCV000847753] | Chr13:52538548..53354011 [GRCh37] Chr13:13q14.3 |
uncertain significance |
Additional Information
External Database Links| Database | Acc Id | Source(s) |
| AGR Gene | HGNC:16987 | AgrOrtholog |
| COSMIC | SUGT1 | COSMIC |
| Ensembl Genes | ENSG00000165416 | ENTREZGENE, UniProtKB/Swiss-Prot |
| Ensembl Protein | ENSP00000308067 | ENTREZGENE, UniProtKB/Swiss-Prot |
| ENSP00000367208 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| Ensembl Transcript | ENST00000310528 | ENTREZGENE, UniProtKB/Swiss-Prot |
| ENST00000343788 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| Gene3D-CATH | 1.25.40.10 | UniProtKB/Swiss-Prot |
| 2.60.40.790 | UniProtKB/Swiss-Prot | |
| GTEx | ENSG00000165416 | GTEx |
| HGNC ID | HGNC:16987 | ENTREZGENE |
| Human Proteome Map | SUGT1 | Human Proteome Map |
| InterPro | CS_dom | UniProtKB/Swiss-Prot |
| HSP20-like_chaperone | UniProtKB/Swiss-Prot | |
| SGS_dom | UniProtKB/Swiss-Prot | |
| TPR-contain_dom | UniProtKB/Swiss-Prot | |
| TPR-like_helical_dom_sf | UniProtKB/Swiss-Prot | |
| TPR_repeat | UniProtKB/Swiss-Prot | |
| KEGG Report | hsa:10910 | UniProtKB/Swiss-Prot |
| NCBI Gene | 10910 | ENTREZGENE |
| OMIM | 604098 | OMIM |
| Pfam | PF04969 | UniProtKB/Swiss-Prot |
| SGS | UniProtKB/Swiss-Prot | |
| PharmGKB | PA134880121 | PharmGKB |
| PROSITE | PS51203 | UniProtKB/Swiss-Prot |
| SGS | UniProtKB/Swiss-Prot | |
| TPR | UniProtKB/Swiss-Prot | |
| TPR_REGION | UniProtKB/Swiss-Prot | |
| SMART | TPR | UniProtKB/Swiss-Prot |
| Superfamily-SCOP | SSF48452 | UniProtKB/Swiss-Prot |
| SSF49764 | UniProtKB/Swiss-Prot | |
| UniGene | Hs.281902 | ENTREZGENE |
| UniProt | A8K7W3 | ENTREZGENE, UniProtKB/TrEMBL |
| B4DYC6 | ENTREZGENE, UniProtKB/TrEMBL | |
| Q9Y2Z0 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| UniProt Secondary | A2A303 | UniProtKB/Swiss-Prot |
| Q5JAK5 | UniProtKB/Swiss-Prot | |
| Q5TAM6 | UniProtKB/Swiss-Prot | |
| Q6VXY6 | UniProtKB/Swiss-Prot |
Nomenclature History| Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
|---|---|---|---|---|---|---|---|
| 2015-09-29 | SUGT1 | SGT1 homolog, MIS12 kinetochore complex assembly cochaperone | SGT1, suppressor of G2 allele of SKP1 (S. cerevisiae) | Symbol and/or name change | 5135510 | APPROVED | |
| 2011-08-17 | SUGT1 | SGT1, suppressor of G2 allele of SKP1 (S. cerevisiae) | SUGT1 | SGT1, suppressor of G2 allele of SKP1 (S. cerevisiae) | Symbol and/or name change | 5135510 | APPROVED |
 |
| More on SUGT1 | |
|
Alliance Gene |
|
NCBI Gene |
|
Ensembl Gene |
|
|
JBrowse: hg19 hg38 |
|
HGNC Report |
|
NCBI Genome Data Viewer |
| CRRD Object Information | |
| CRRD ID: | 1316810 |
| Created: | 2005-01-12 |
| Species: | Homo sapiens |
| Last Modified: | 2019-11-26 |
| Status: | ACTIVE |
