 Gene-Chemical Interaction Annotations | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Gene Ontology AnnotationsMolecular Pathway Annotations |
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Analyze GeneStrainQTL List |
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GOLF (Gene-Ortholog Location Finder) |
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. | KEGG |
| 3. | Pipeline to import KEGG annotations from KEGG into RGD |
| 4. | Pipeline to import Pathway Interaction Database annotations from NCI into RGD |
| 5. | RGD automated import pipeline for gene-chemical interactions |
| 6. | Saheki Y and De Camilli P, Cold Spring Harb Perspect Biol. 2012 Sep 1;4(9):a005645. doi: 10.1101/cshperspect.a005645. |
References - uncurated| PubMed | 1975516 2204686 2211724 2406259 3267234 4066749 7713494 8125298 8413590 9314527 9651214 10567358 11031247 11157096 11252894 11756460 11889126 12057195 12426379 12477932 12589051 12692238 15146197 15164053 15489334 15533940 16138905 16595675 16799092 17110338 17140399 17213182 17581864 17620599 18165318 18548008 18602423 18854154 18977142 19144635 19615732 19738201 19913121 19946888 20012528 20562859 20628086 21145461 21152103 21203429 21289110 21297582 21611203 21704113 21738476 21873635 21900206 21988832 22623428 23304142 23398456 23460120 24711643 25107275 25144556 25898166 25921289 26344197 26496610 26975582 27173435 27684187 27880917 28378594 28533407 29117863 29478914 29509190 29511261 29568061 29735542 29845934 30021884 30196744 |
Genomics
Comparative Map Data| CLTA (Homo sapiens - human) |
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| Clta (Mus musculus - house mouse) |
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| Clta (Rattus norvegicus - Norway rat) |
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| Clta (Chinchilla lanigera - long-tailed chinchilla) |
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| CLTA (Pan paniscus - bonobo/pygmy chimpanzee) |
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| CLTA (Canis lupus familiaris - dog) |
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| Clta (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| CLTA (Sus scrofa - pig) |
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Position Markers| RH79677 |
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| RH74929 |
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| G43533 |
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| AV026556 |
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| STS-M20471 |
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| RH67858 |
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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_001076677 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| NM_001184760 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001184761 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001184762 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001311203 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001311204 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001311205 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001311206 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001833 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_007096 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NR_132349 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017014257 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017014258 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_024447409 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| GenBank Nucleotide | AK225153 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| AK291078 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK295692 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AL158830 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC009201 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC019287 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BF797444 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BI090227 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BI600540 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BM423666 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BT007170 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CA306784 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CA441539 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CH471071 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CN300759 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| DN991152 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| DQ270158 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| DT220470 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| M20471 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| M20472 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
Reference Sequences
| RefSeq Acc Id: | NM_001076677 ⟹ NP_001070145 | |||||||||||||||||||||||||||||
| RefSeq Status: | REVIEWED | |||||||||||||||||||||||||||||
| Type: | CODING | |||||||||||||||||||||||||||||
| Position: |
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| Sequence: |
GATTGGTTGTTCCCTTTTCGGCTCTGCAACACCGCCTAGACCGACCGGATACACGGGTAGGGCThide sequence |
| RefSeq Acc Id: | NM_001184760 ⟹ NP_001171689 | ||||||||||||||||||||||||
| RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||
| Position: |
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| Sequence: |
GATTGGTTGTTCCCTTTTCGGCTCTGCAACACCGCCTAGACCGACCGGATACACGGGTAGGGCThide sequence |
| RefSeq Acc Id: | NM_001184761 ⟹ NP_001171690 | ||||||||||||||||||||||||
| RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||
| Position: |
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| Sequence: |
GATTGGTTGTTCCCTTTTCGGCTCTGCAACACCGCCTAGACCGACCGGATACACGGGTAGGGCThide sequence |
| RefSeq Acc Id: | NM_001184762 ⟹ NP_001171691 | ||||||||||||||||||||||||
| RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||
| Position: |
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| Sequence: |
GATTGGTTGTTCCCTTTTCGGCTCTGCAACACCGCCTAGACCGACCGGATACACGGGTAGGGCThide sequence |
| RefSeq Acc Id: | NM_001311203 ⟹ NP_001298132 | ||||||||||||||
| RefSeq Status: | REVIEWED | ||||||||||||||
| Type: | CODING | ||||||||||||||
| Position: |
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| Sequence: |
GATTGGTTGTTCCCTTTTCGGCTCTGCAACACCGCCTAGACCGACCGGATACACGGGTAGGGCThide sequence |
| RefSeq Acc Id: | NM_001311204 ⟹ NP_001298133 | ||||||||||||||
| RefSeq Status: | REVIEWED | ||||||||||||||
| Type: | CODING | ||||||||||||||
| Position: |
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| Sequence: |
GATTGGTTGTTCCCTTTTCGGCTCTGCAACACCGCCTAGACCGACCGGATACACGGGTAGGGCThide sequence |
| RefSeq Acc Id: | NM_001311205 ⟹ NP_001298134 | ||||||||||||||
| RefSeq Status: | REVIEWED | ||||||||||||||
| Type: | CODING | ||||||||||||||
| Position: |
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| Sequence: |
GATTGGTTGTTCCCTTTTCGGCTCTGCAACACCGCCTAGACCGACCGGATACACGGGTAGGGCThide sequence |
| RefSeq Acc Id: | NM_001311206 ⟹ NP_001298135 | ||||||||||||||
| RefSeq Status: | REVIEWED | ||||||||||||||
| Type: | CODING | ||||||||||||||
| Position: |
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| Sequence: |
GATTGGTTGTTCCCTTTTCGGCTCTGCAACACCGCCTAGACCGACCGGATACACGGGTAGGGCThide sequence |
| RefSeq Acc Id: | NM_001833 ⟹ NP_001824 | |||||||||||||||||||||||||||||
| RefSeq Status: | REVIEWED | |||||||||||||||||||||||||||||
| Type: | CODING | |||||||||||||||||||||||||||||
| Position: |
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| Sequence: |
GATTGGTTGTTCCCTTTTCGGCTCTGCAACACCGCCTAGACCGACCGGATACACGGGTAGGGCThide sequence |
| RefSeq Acc Id: | NM_007096 ⟹ NP_009027 | |||||||||||||||||||||||||||||
| RefSeq Status: | REVIEWED | |||||||||||||||||||||||||||||
| Type: | CODING | |||||||||||||||||||||||||||||
| Position: |
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| Sequence: |
GATTGGTTGTTCCCTTTTCGGCTCTGCAACACCGCCTAGACCGACCGGATACACGGGTAGGGCThide sequence |
| RefSeq Acc Id: | NR_132349 | ||||||||||||||
| RefSeq Status: | REVIEWED | ||||||||||||||
| Type: | NON-CODING | ||||||||||||||
| Position: |
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| Sequence: |
GATTGGTTGTTCCCTTTTCGGCTCTGCAACACCGCCTAGACCGACCGGATACACGGGTAGGGCThide sequence |
| RefSeq Acc Id: | XM_017014257 ⟹ XP_016869746 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
CGCCTAGACCGACCGGATACACGGATGCTGTTGATGGAGTAATGAATGGTGAATACTACCAGGAhide sequence |
| RefSeq Acc Id: | XM_017014258 ⟹ XP_016869747 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
ACCGCCTAGACCGACCGGATACACGGATGCTGTTGATGGAGTAATGAATGGTGAATACTACCAGhide sequence |
| RefSeq Acc Id: | XM_024447409 ⟹ XP_024303177 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
TGATTGGTTGTTCCCTTTTCGGCTCTGCAACACCGCCTAGACCGACCGGATACACGGATGCTGThide sequence |
Protein Sequences| Protein RefSeqs | NP_001070145 | (Get FASTA) | NCBI Sequence Viewer |
| NP_001171689 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001171690 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001171691 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001298132 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001298133 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001298134 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001298135 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001824 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_009027 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016869746 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016869747 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_024303177 | (Get FASTA) | NCBI Sequence Viewer | |
| GenBank Protein | AAA51817 | (Get FASTA) | NCBI Sequence Viewer |
| AAA59505 | (Get FASTA) | NCBI Sequence Viewer | |
| AAH09201 | (Get FASTA) | NCBI Sequence Viewer | |
| AAH19287 | (Get FASTA) | NCBI Sequence Viewer | |
| AAP35834 | (Get FASTA) | NCBI Sequence Viewer | |
| ABB76683 | (Get FASTA) | NCBI Sequence Viewer | |
| BAF83767 | (Get FASTA) | NCBI Sequence Viewer | |
| BAG58543 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW58310 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW58311 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW58312 | (Get FASTA) | NCBI Sequence Viewer | |
| P09496 | (Get FASTA) | NCBI Sequence Viewer |
Reference Sequences
| RefSeq Acc Id: | NP_009027 ⟸ NM_007096 |
| - Peptide Label: | isoform b |
| - UniProtKB: | P09496 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MAELDPFGAPAGAPGGPALGNGVAGAGEEDPAAAFLAQQESEIAGIENDEAFAILDGGAPGPQPhide sequence |
| RefSeq Acc Id: | NP_001070145 ⟸ NM_001076677 |
| - Peptide Label: | isoform c |
| - UniProtKB: | P09496 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MAELDPFGAPAGAPGGPALGNGVAGAGEEDPAAAFLAQQESEIAGIENDEAFAILDGGAPGPQPhide sequence |
| RefSeq Acc Id: | NP_001171689 ⟸ NM_001184760 |
| - Peptide Label: | isoform d |
| - UniProtKB: | P09496 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MAELDPFGAPAGAPGGPALGNGVAGAGEEDPAAAFLAQQESEIAGIENDEAFAILDGGAPGPQPhide sequence |
| RefSeq Acc Id: | NP_001824 ⟸ NM_001833 |
| - Peptide Label: | isoform a |
| - UniProtKB: | P09496 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MAELDPFGAPAGAPGGPALGNGVAGAGEEDPAAAFLAQQESEIAGIENDEAFAILDGGAPGPQPhide sequence |
| RefSeq Acc Id: | NP_001171690 ⟸ NM_001184761 |
| - Peptide Label: | isoform e |
| - Sequence: |
MAELDPFGAPAGAPGGPALGNGVAGAGEEDPAAAFLAQQESEIAGIENDEAFAILDGGAPGPQPhide sequence |
| RefSeq Acc Id: | NP_001171691 ⟸ NM_001184762 |
| - Peptide Label: | isoform f |
| - UniProtKB: | P09496 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MAELDPFGAPAGAPGGPALGNGVAGAGEEDPAAAFLAQQESEIAGIENDEAFAILDGGAPGPQPhide sequence |
| RefSeq Acc Id: | NP_001298135 ⟸ NM_001311206 |
| - Peptide Label: | isoform j |
| - Sequence: |
MERLEALDANSRKQEAEWKEKAIKELEEWYARQDEQLQKTKANNRAAEEAFVNDIDESSPGTEWhide sequence |
| RefSeq Acc Id: | NP_001298133 ⟸ NM_001311204 |
| - Peptide Label: | isoform h |
| - UniProtKB: | C9J8P9 (UniProtKB/TrEMBL) |
| - Sequence: |
MAELDPFGAPAGAPGGPALGNGVAGAGEEDPAAAFLAQQESEIAGIENDEAFAILDGGAPGPQPhide sequence |
| RefSeq Acc Id: | NP_001298134 ⟸ NM_001311205 |
| - Peptide Label: | isoform i |
| - Sequence: |
MAELDPFGAPAGAPGGPALGNGVAGAGEEDPAAAFLAQQESEIAGIENDEAFAILDGGAPGPQPhide sequence |
| RefSeq Acc Id: | NP_001298132 ⟸ NM_001311203 |
| - Peptide Label: | isoform g |
| - Sequence: |
MNGEYYQESNGPTDSYAAISQVDRLQSEPESIRKWREEQMERLEALDANSRKQEAEWKEKAIKEhide sequence |
| RefSeq Acc Id: | XP_016869747 ⟸ XM_017014258 |
| - Peptide Label: | isoform X2 |
| - Sequence: |
MNGEYYQESNGPTDSYAAISQVDRLQSEPESIRKWREEQMERLEALDANSRKQEAEWKEKAIKEhide sequence |
| RefSeq Acc Id: | XP_016869746 ⟸ XM_017014257 |
| - Peptide Label: | isoform X1 |
| - Sequence: |
MNGEYYQESNGPTDSYAAISQVDRLQSEPESIRKWREEQMERLEALDANSRKQEAEWKEKAIKEhide sequence |
| RefSeq Acc Id: | XP_024303177 ⟸ XM_024447409 |
| - Peptide Label: | isoform X3 |
| - Sequence: |
MNGEYYQESNGPTDSYAAISQVDRLQSEPESIRKWREEQMERLEALDANSRKQEAEWKEKAIKEhide sequence |
Promoters| RGD ID: | 6807398 | |||||||||
| Promoter ID: | HG_KWN:63133 | |||||||||
| 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_001076677, NM_001184760, NM_001184761, NM_001184762, NM_001833, NM_007096, UC003ZZF.1 | |||||||||
| Position: |
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| RGD ID: | 6852208 | |||||||||
| Promoter ID: | EP73910 | |||||||||
| Type: | initiation region | |||||||||
| Name: | HS_CLTA | |||||||||
| Description: | Clathrin, light polypeptide (Lca). | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | |||||||||
| Experiment Methods: | Mammalian gene collection (MGC) full-length cDNA cloning | |||||||||
| Position: |
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| RGD ID: | 7215063 | |||||||||
| Promoter ID: | EPDNEW_H13277 | |||||||||
| Type: | initiation region | |||||||||
| Name: | CLTA_1 | |||||||||
| Description: | clathrin light chain A | |||||||||
| 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 9p24.3-13.1(chr9:204193-38815478)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050357]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050357]|See cases [RCV000050357] | Chr9:204193..38815478 [GRCh38] Chr9:204193..38815475 [GRCh37] Chr9:194193..38805475 [NCBI36] Chr9:9p24.3-13.1 |
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
| GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 | copy number gain | Global developmental delay [RCV000050347]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050348]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050348]|See cases [RCV000050348] | Chr9:193412..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051106]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051106]|See cases [RCV000051106] | Chr9:204193..38741440 [GRCh38] Chr9:204193..38741437 [GRCh37] Chr9:194193..38731437 [NCBI36] Chr9:9p24.3-13.1 |
pathogenic |
| GRCh38/hg38 9p24.3-13.1(chr9:203993-38815619)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053703]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053703]|See cases [RCV000053703] | Chr9:203993..38815619 [GRCh38] Chr9:203993..38815616 [GRCh37] Chr9:193993..38805616 [NCBI36] Chr9:9p24.3-13.1 |
pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 | copy number gain | Intrauterine growth retardation [RCV000053745]|See cases [RCV000053745] | Chr9:193412..138124532 [GRCh38] Chr9:204193..141018984 [GRCh37] Chr9:194193..140138805 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh38/hg38 9p24.3-13.1(chr9:220253-38815419)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053747]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053747]|See cases [RCV000053747] | Chr9:220253..38815419 [GRCh38] Chr9:220253..38815416 [GRCh37] Chr9:210253..38805416 [NCBI36] Chr9:9p24.3-13.1 |
pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] | Chr9:193412..138179445 [GRCh38] Chr9:266045..141073897 [GRCh37] Chr9:256045..140193718 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053746]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053746]|See cases [RCV000053746] | Chr9:193412..138114463 [GRCh38] Chr9:214367..141008915 [GRCh37] Chr9:204367..140128736 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) | copy number gain | See cases [RCV000133791] | Chr9:204193..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh38/hg38 9p13.3-13.1(chr9:33225730-38529813)x3 | copy number gain | See cases [RCV000133829] | Chr9:33225730..38529813 [GRCh38] Chr9:33225728..38529810 [GRCh37] Chr9:33215728..38519810 [NCBI36] Chr9:9p13.3-13.1 |
pathogenic |
| GRCh38/hg38 9p13.3-13.1(chr9:35623500-38815474)x3 | copy number gain | See cases [RCV000134038] | Chr9:35623500..38815474 [GRCh38] Chr9:35623497..38815471 [GRCh37] Chr9:35613497..38805471 [NCBI36] Chr9:9p13.3-13.1 |
pathogenic |
| GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3 | copy number gain | See cases [RCV000135344] | Chr9:13997..68401065 [GRCh38] Chr9:13997..71015981 [GRCh37] Chr9:3997..70205801 [NCBI36] Chr9:9p24.3-q21.11 |
pathogenic |
| GRCh38/hg38 9p13.3-13.2(chr9:33572681-36782015)x1 | copy number loss | See cases [RCV000134762] | Chr9:33572681..36782015 [GRCh38] Chr9:33572679..36782012 [GRCh37] Chr9:33562679..36772012 [NCBI36] Chr9:9p13.3-13.2 |
pathogenic |
| GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3 | copy number gain | See cases [RCV000136152] | Chr9:193412..70630731 [GRCh38] Chr9:220253..73245647 [GRCh37] Chr9:210253..72435467 [NCBI36] Chr9:9p24.3-q21.12 |
pathogenic |
| GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3 | copy number gain | See cases [RCV000135954] | Chr9:193412..74615913 [GRCh38] Chr9:204193..77230829 [GRCh37] Chr9:194193..76420649 [NCBI36] Chr9:9p24.3-q21.13 |
pathogenic |
| GRCh38/hg38 9p24.1-13.2(chr9:7162304-37038771)x3 | copy number gain | See cases [RCV000137741] | Chr9:7162304..37038771 [GRCh38] Chr9:7162304..37038768 [GRCh37] Chr9:7152304..37028768 [NCBI36] Chr9:9p24.1-13.2 |
pathogenic |
| GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4 | copy number gain | See cases [RCV000137888] | Chr9:204104..66233120 [GRCh38] Chr9:204104..47212321 [GRCh37] Chr9:194104..47002141 [NCBI36] Chr9:9p24.3-q21.11 |
pathogenic|conflicting data from submitters |
| GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 | copy number gain | See cases [RCV000138783] | Chr9:193412..138124524 [GRCh38] Chr9:204090..141018976 [GRCh37] Chr9:194090..140138797 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3 | copy number gain | See cases [RCV000139208] | Chr9:204104..67549861 [GRCh38] Chr9:204104..66516698 [GRCh37] Chr9:194104..66256518 [NCBI36] Chr9:9p24.3-q21.11 |
pathogenic |
| GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3 | copy number gain | See cases [RCV000139126] | Chr9:204104..38768294 [GRCh38] Chr9:204104..38768291 [GRCh37] Chr9:194104..38758291 [NCBI36] Chr9:9p24.3-13.1 |
pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 | copy number gain | See cases [RCV000138962] | Chr9:193412..138159073 [GRCh38] Chr9:204104..141053525 [GRCh37] Chr9:194104..140173346 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic|conflicting data from submitters |
| GRCh38/hg38 9p22.2-q21.11(chr9:18344605-68257015) | copy number gain | See cases [RCV000140448] | Chr9:18344605..68257015 [GRCh38] Chr9:18344603..68995221 [GRCh37] Chr9:18334603..68285041 [NCBI36] Chr9:9p22.2-q21.11 |
pathogenic |
| GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4 | copy number gain | See cases [RCV000141904] | Chr9:203861..88130444 [GRCh38] Chr9:203861..90745359 [GRCh37] Chr9:193861..89935179 [NCBI36] Chr9:9p24.3-q22.1 |
pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 | copy number gain | See cases [RCV000141876] | Chr9:203861..138125937 [GRCh38] Chr9:203861..141020389 [GRCh37] Chr9:193861..140140210 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh38/hg38 9p21.1-q21.11(chr9:31426827-68257015)x3 | copy number gain | See cases [RCV000141663] | Chr9:31426827..68257015 [GRCh38] Chr9:31426825..68330127 [GRCh37] Chr9:31416825..67819947 [NCBI36] Chr9:9p21.1-q21.11 |
pathogenic |
| GRCh38/hg38 9p21.1-13.1(chr9:28975663-38787483)x3 | copy number gain | See cases [RCV000142317] | Chr9:28975663..38787483 [GRCh38] Chr9:28975661..38787480 [GRCh37] Chr9:28965661..38777480 [NCBI36] Chr9:9p21.1-13.1 |
likely pathogenic |
| GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3 | copy number gain | See cases [RCV000143012] | Chr9:193412..79877816 [GRCh38] Chr9:204104..82492731 [GRCh37] Chr9:194104..81682551 [NCBI36] Chr9:9p24.3-q21.31 |
pathogenic |
| GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642) | copy number gain | See cases [RCV000143411] | Chr9:203861..38381642 [GRCh38] Chr9:203861..38381639 [GRCh37] Chr9:193861..38371639 [NCBI36] Chr9:9p24.3-13.1 |
pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 | copy number gain | See cases [RCV000143476] | Chr9:203862..138125937 [GRCh38] Chr9:203862..141020389 [GRCh37] Chr9:193862..140140210 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 | copy number gain | See cases [RCV000148113] | Chr9:193412..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 | copy number gain | See cases [RCV000148159] | Chr9:204193..38815478 [GRCh38] Chr9:204193..38815475 [GRCh37] Chr9:194193..38805475 [NCBI36] Chr9:9p24.3-13.1 |
pathogenic |
| GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 | copy number gain | See cases [RCV000139207] | Chr9:193412..138159073 [GRCh38] Chr9:68420641..141053525 [GRCh37] Chr9:67910461..140173346 [NCBI36] Chr9:9p11.2-q34.3 |
pathogenic |
| GRCh37/hg19 9p24.3-13.1(chr9:163131-38763958)x3 | copy number gain | See cases [RCV000240201] | Chr9:163131..38763958 [GRCh37] Chr9:9p24.3-13.1 |
pathogenic |
| GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 | copy number gain | See cases [RCV000240081] | Chr9:163131..141122114 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh37/hg19 9p24.3-11.2(chr9:213161-47212321)x4 | copy number gain | See cases [RCV000240048] | Chr9:213161..47212321 [GRCh37] Chr9:9p24.3-11.2 |
pathogenic |
| GRCh37/hg19 9p24.3-13.1(chr9:213161-39092820)x3 | copy number gain | See cases [RCV000239869] | Chr9:213161..39092820 [GRCh37] Chr9:9p24.3-13.1 |
pathogenic |
| GRCh37/hg19 9p24.3-q13(chr9:203861-68188391)x4 | copy number gain | See cases [RCV000449165] | Chr9:203861..68188391 [GRCh37] Chr9:9p24.3-q13 |
pathogenic |
| GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) | copy number gain | See cases [RCV000449375] | Chr9:62525..141006407 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 | copy number gain | See cases [RCV000447207] | Chr9:203861..141020389 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4 | copy number gain | See cases [RCV000446521] | Chr9:203861..67983174 [GRCh37] Chr9:9p24.3-q13 |
pathogenic |
| GRCh37/hg19 9p24.3-13.1(chr9:32396-39140211) | copy number gain | See cases [RCV000447246] | Chr9:32396..39140211 [GRCh37] Chr9:9p24.3-13.1 |
pathogenic |
| GRCh37/hg19 9p24.3-q21.11(chr9:13997-70919878)x4 | copy number gain | See cases [RCV000448242] | Chr9:13997..70919878 [GRCh37] Chr9:9p24.3-q21.11 |
pathogenic |
| GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883)x3 | copy number gain | See cases [RCV000448569] | Chr9:203861..69002883 [GRCh37] Chr9:9p24.3-q21.11 |
pathogenic |
| GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 | copy number gain | See cases [RCV000448978] | Chr9:203864..141020389 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3 | copy number gain | See cases [RCV000510864] | Chr9:203861..38787480 [GRCh37] Chr9:9p24.3-13.1 |
pathogenic |
| GRCh37/hg19 9p24.3-11.2(chr9:204193-44259464)x4 | copy number gain | Syndromic hydrocephalus due to diffuse villous hyperplasia of choroid plexus [RCV000677299] | Chr9:204193..44259464 [GRCh37] Chr9:9p24.3-11.2 |
likely pathogenic |
| GRCh37/hg19 9p24.3-q21.33(chr9:203861-88189913)x3 | copy number gain | See cases [RCV000512431] | Chr9:203861..88189913 [GRCh37] Chr9:9p24.3-q21.33 |
pathogenic |
| GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) | copy number gain | See cases [RCV000512392] | Chr9:203862..141020389 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4 | copy number gain | not provided [RCV000683173] | Chr9:203861..67983174 [GRCh37] Chr9:9p24.3-q13 |
pathogenic |
| GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3 | copy number gain | not provided [RCV000683172] | Chr9:203861..38787480 [GRCh37] Chr9:9p24.3-13.1 |
pathogenic |
| GRCh37/hg19 9p24.3-q21.11(chr9:203861-70985795)x4 | copy number gain | not provided [RCV000683175] | Chr9:203861..70985795 [GRCh37] Chr9:9p24.3-q21.11 |
pathogenic |
| GRCh37/hg19 9p24.3-q13(chr9:203861-68262804)x3,4 | copy number gain | not provided [RCV000683174] | Chr9:203861..68262804 [GRCh37] Chr9:9p24.3-q13 |
pathogenic |
| GRCh37/hg19 9p24.3-q21.12(chr9:203861-72717793)x3 | copy number gain | not provided [RCV000683176] | Chr9:203861..72717793 [GRCh37] Chr9:9p24.3-q21.12 |
pathogenic |
| NC_000009.11:g.(?_34645556)_(36277059_?)dup | duplication | Anauxetic dysplasia [RCV000708053] | Chr9:34645559..36277062 [GRCh38] Chr9:34645556..36277059 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NC_000009.11:g.(?_34458984)_(36277059_?)dup | duplication | Distal spinal muscular atrophy, autosomal recessive 2 [RCV000708492] | Chr9:34458984..36277059 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 | copy number gain | not provided [RCV000748055] | Chr9:10590..141122247 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 | copy number gain | not provided [RCV000748053] | Chr9:10590..141107672 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 | copy number gain | not provided [RCV000748063] | Chr9:46587..141066491 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 | copy number gain | not provided [RCV000748054] | Chr9:10590..141114095 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
| Single allele | complex | Glioma [RCV000754871] | Chr9:23524426..87359888 [GRCh37] Chr9:9p21.3-q21.33 |
likely pathogenic |
| GRCh37/hg19 9p24.3-13.1(chr9:214309-39156958) | copy number gain | not provided [RCV000767644] | Chr9:214309..39156958 [GRCh37] Chr9:9p24.3-13.1 |
pathogenic |
| GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 | copy number gain | not provided [RCV000845900] | Chr9:203861..141020388 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh37/hg19 9p13.3-q13(chr9:34542635-68210033)x3 | copy number gain | not provided [RCV000849826] | Chr9:34542635..68210033 [GRCh37] Chr9:9p13.3-q13 |
pathogenic |
| GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)x3 | copy number gain | not provided [RCV000845815] | Chr9:203861..67986965 [GRCh37] Chr9:9p24.3-q13 |
pathogenic |
| GRCh37/hg19 9p24.3-13.1(chr9:203861-38472979)x3 | copy number gain | not provided [RCV000848175] | Chr9:203861..38472979 [GRCh37] Chr9:9p24.3-13.1 |
pathogenic |
Additional Information
External Database Links| Database | Acc Id | Source(s) |
| AGR Gene | HGNC:2090 | AgrOrtholog |
| COSMIC | CLTA | COSMIC |
| Ensembl Genes | ENSG00000122705 | ENTREZGENE, UniProtKB/Swiss-Prot |
| Ensembl Protein | ENSP00000242284 | ENTREZGENE, UniProtKB/Swiss-Prot |
| ENSP00000242285 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENSP00000379848 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENSP00000401019 | UniProtKB/Swiss-Prot | |
| ENSP00000417698 | ENTREZGENE, UniProtKB/TrEMBL | |
| ENSP00000419158 | UniProtKB/TrEMBL | |
| ENSP00000419746 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENSP00000437508 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENSP00000442869 | UniProtKB/Swiss-Prot | |
| ENSP00000474266 | UniProtKB/TrEMBL | |
| Ensembl Transcript | ENST00000242285 | ENTREZGENE, UniProtKB/Swiss-Prot |
| ENST00000345519 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENST00000396603 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENST00000433436 | UniProtKB/Swiss-Prot | |
| ENST00000464497 | UniProtKB/TrEMBL | |
| ENST00000466396 | ENTREZGENE, UniProtKB/TrEMBL | |
| ENST00000470744 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENST00000493185 | UniProtKB/TrEMBL | |
| ENST00000538225 | UniProtKB/Swiss-Prot | |
| ENST00000540080 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| GTEx | ENSG00000122705 | GTEx |
| HGNC ID | HGNC:2090 | ENTREZGENE |
| Human Proteome Map | CLTA | Human Proteome Map |
| InterPro | Clathrin_L-chain | UniProtKB/Swiss-Prot |
| KEGG Report | hsa:1211 | UniProtKB/Swiss-Prot |
| NCBI Gene | 1211 | ENTREZGENE |
| OMIM | 118960 | OMIM |
| PANTHER | PTHR10639 | UniProtKB/Swiss-Prot |
| Pfam | Clathrin_lg_ch | UniProtKB/Swiss-Prot |
| PharmGKB | PA26616 | PharmGKB |
| PROSITE | CLATHRIN_LIGHT_CHN_1 | UniProtKB/Swiss-Prot |
| CLATHRIN_LIGHT_CHN_2 | UniProtKB/Swiss-Prot | |
| UniGene | Hs.522114 | ENTREZGENE |
| UniProt | C9J8P9 | ENTREZGENE, UniProtKB/TrEMBL |
| CLCA_HUMAN | UniProtKB/Swiss-Prot | |
| F8WF69_HUMAN | UniProtKB/TrEMBL | |
| P09496 | ENTREZGENE | |
| S4R3F6_HUMAN | UniProtKB/TrEMBL | |
| UniProt Secondary | A8K4W3 | UniProtKB/Swiss-Prot |
| B4DIN1 | UniProtKB/Swiss-Prot | |
| F5H6N3 | UniProtKB/Swiss-Prot | |
| Q2XPN5 | UniProtKB/Swiss-Prot | |
| Q53XZ1 | UniProtKB/Swiss-Prot |
Nomenclature History| Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
|---|---|---|---|---|---|---|---|
| 2016-01-26 | CLTA | clathrin light chain A | clathrin, light chain A | Symbol and/or name change | 5135510 | APPROVED | |
| 2011-08-17 | CLTA | clathrin, light chain A | CLTA | clathrin, light chain A | Symbol and/or name change | 5135510 | APPROVED |
| 2011-07-27 | CLTA | clathrin, light chain A | CLTA | clathrin, light chain (Lca) | Symbol and/or name change | 5135510 | APPROVED |
 |
| More on CLTA | |
|
Alliance Gene |
|
NCBI Gene |
|
Ensembl Gene |
|
|
JBrowse: hg19 hg38 |
|
HGNC Report |
|
NCBI Genome Data Viewer |
| RGD Object Information | |
| RGD ID: | 733774 |
| Created: | 2004-01-12 |
| Species: | Homo sapiens |
| Last Modified: | 2019-11-26 |
| Status: | ACTIVE |
