 Gene Ontology Annotations | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cellular Component
Molecular Function
Molecular Pathway Annotations |
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Cellular Component
Molecular Function
Molecular Pathway AnnotationsGene-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. | Pipeline to import KEGG annotations from KEGG into RGD |
| 2. | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 3. | RGD automated import pipeline for gene-chemical interactions |
References - uncurated| PubMed | 12477932 12640454 14702039 16344560 16799181 18029348 19029121 21873635 25867316 26606397 28611215 28887301 |
Genomics
Comparative Map Data| PNPLA7 (Homo sapiens - human) |
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| Pnpla7 (Mus musculus - house mouse) |
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| Pnpla7 (Rattus norvegicus - Norway rat) |
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| Pnpla7 (Chinchilla lanigera - long-tailed chinchilla) |
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| PNPLA7 (Pan paniscus - bonobo/pygmy chimpanzee) |
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| PNPLA7 (Canis lupus familiaris - dog) |
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| Pnpla7 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| PNPLA7 (Sus scrofa - pig) |
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Position Markers| STS-N29354 |
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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_001098537 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| NM_152286 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_006717102 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_006717104 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_011518664 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017014709 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XR_001746292 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XR_929791 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XR_929792 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XR_929793 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XR_929794 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| GenBank Nucleotide | AK024443 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| AK055880 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK122590 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK125060 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK126267 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK127249 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK127340 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK297623 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK310060 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AL365502 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AL832856 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AL832944 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC025663 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BF507598 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CH471090 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| DA121537 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| DA333013 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| DA333130 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| DA963194 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KF458950 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
Reference Sequences
| RefSeq Acc Id: | NM_001098537 ⟹ NP_001092007 | ||||||||||||||||||||||||||||||||||
| RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||||||||||||
| Position: |
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| Sequence: |
ACCTCCCCTCCAGCCGTGCTTCTCCAGAAGGCAGCGCTGCCCCCATCCCCGCCGCGCTGGGCCThide sequence |
| RefSeq Acc Id: | NM_152286 ⟹ NP_689499 | ||||||||||||||||||||||||||||||||||
| RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||||||||||||
| Position: |
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| Sequence: |
ACCTCCCCTCCAGCCGTGCTTCTCCAGAAGGCAGCGCTGCCCCCATCCCCGCCGCGCTGGGCCThide sequence |
| RefSeq Acc Id: | XM_006717102 ⟹ XP_006717165 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
GCTGCCCCCATCCCCGCCGCGCTGGGCCTGGCTCCTCTTGACCTGCTTGGATACGCCCCATCTGhide sequence |
| RefSeq Acc Id: | XM_006717104 ⟹ XP_006717167 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
CCAGCGGTACCCCTACACGCCGGATCCACCCCCTCCCCAGCTGCACCCTCCTCCCCAGCTGCAThide sequence |
| RefSeq Acc Id: | XM_011518664 ⟹ XP_011516966 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
GCTGCCCCCATCCCCGCCGCGCTGGGCCTGGCTCCTCTTGACCTGCTTGGATACGCCCCATCTGhide sequence |
| RefSeq Acc Id: | XM_017014709 ⟹ XP_016870198 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
CCAGCGGTACCCCTACACGCCGGATCCACCCCCTCCCCAGCTGCACCCTCCTCCCCAGCTGCAThide sequence |
| RefSeq Acc Id: | XR_001746292 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | NON-CODING | |||||||||
| Position: |
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| Sequence: |
GCTGCCCCCATCCCCGCCGCGCTGGGCCTGGCTCCTCTTGACCTGCTTGGATACGCCCCATCTGhide sequence |
| RefSeq Acc Id: | XR_929791 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | NON-CODING | |||||||||
| Position: |
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| Sequence: |
ACAGAGGGAAGGAGGTGGCTCCTAGCAGATGACAGACACTTCTCAAAAGACAGCTTTTCTTCCThide sequence |
| RefSeq Acc Id: | XR_929792 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | NON-CODING | |||||||||
| Position: |
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| Sequence: |
GCTGCCCCCATCCCCGCCGCGCTGGGCCTGGCTCCTCTTGACCTGCTTGGATACGCCCCATCTGhide sequence |
| RefSeq Acc Id: | XR_929793 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | NON-CODING | |||||||||
| Position: |
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| Sequence: |
GCTGCCCCCATCCCCGCCGCGCTGGGCCTGGCTCCTCTTGACCTGCTTGGATACGCCCCATCTGhide sequence |
| RefSeq Acc Id: | XR_929794 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | NON-CODING | |||||||||
| Position: |
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| Sequence: |
GCTGCCCCCATCCCCGCCGCGCTGGGCCTGGCTCCTCTTGACCTGCTTGGATACGCCCCATCTGhide sequence |
Protein Sequences| Protein RefSeqs | NP_001092007 | (Get FASTA) | NCBI Sequence Viewer |
| NP_689499 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_006717165 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_006717167 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_011516966 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016870198 | (Get FASTA) | NCBI Sequence Viewer | |
| GenBank Protein | AAH25663 | (Get FASTA) | NCBI Sequence Viewer |
| BAB15733 | (Get FASTA) | NCBI Sequence Viewer | |
| BAB71033 | (Get FASTA) | NCBI Sequence Viewer | |
| BAC56931 | (Get FASTA) | NCBI Sequence Viewer | |
| BAC86036 | (Get FASTA) | NCBI Sequence Viewer | |
| BAC86509 | (Get FASTA) | NCBI Sequence Viewer | |
| BAG54465 | (Get FASTA) | NCBI Sequence Viewer | |
| BAG54487 | (Get FASTA) | NCBI Sequence Viewer | |
| BAG59999 | (Get FASTA) | NCBI Sequence Viewer | |
| CAH56322 | (Get FASTA) | NCBI Sequence Viewer | |
| CAH56483 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW88396 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW88397 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW88398 | (Get FASTA) | NCBI Sequence Viewer | |
| Q6ZV29 | (Get FASTA) | NCBI Sequence Viewer |
Reference Sequences
| RefSeq Acc Id: | NP_689499 ⟸ NM_152286 |
| - Peptide Label: | isoform b |
| - UniProtKB: | Q6ZV29 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MEEEKDDSPQLTGIAVGALLALALVGVLILFMFRRLRQFRQAQPTPQYRFRKRDKVMFYGRKIMhide sequence |
| RefSeq Acc Id: | NP_001092007 ⟸ NM_001098537 |
| - Peptide Label: | isoform a |
| - UniProtKB: | Q6ZV29 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MEEEKDDSPQADFCLGTALHSWGLWFTEEGSPSTMLTGIAVGALLALALVGVLILFMFRRLRQFhide sequence |
| RefSeq Acc Id: | XP_006717167 ⟸ XM_006717104 |
| - Peptide Label: | isoform X2 |
| - Sequence: |
MLTGIAVGALLALALVGVLILFMFRRLRQFRQAQPTPQYRFRKRDKVMFYGRKIMRKVTTLPNThide sequence |
| RefSeq Acc Id: | XP_006717165 ⟸ XM_006717102 |
| - Peptide Label: | isoform X1 |
| - Sequence: |
MEEEKDDSPQADFCLGTALHSWGLWFTEEGSPSTMLTGIAVGALLALALVGVLILFMFRRLRQFhide sequence |
| RefSeq Acc Id: | XP_011516966 ⟸ XM_011518664 |
| - Peptide Label: | isoform X3 |
| - Sequence: |
MEEEKDDSPQADFCLGTALHSWGLWFTEEGSPSTMLTGIAVGALLALALVGVLILFMFRRLRQFhide sequence |
| RefSeq Acc Id: | XP_016870198 ⟸ XM_017014709 |
| - Peptide Label: | isoform X2 |
| - Sequence: |
MLTGIAVGALLALALVGVLILFMFRRLRQFRQAQPTPQYRFRKRDKVMFYGRKIMRKVTTLPNThide sequence |
Promoters| RGD ID: | 7216811 | |||||||||
| Promoter ID: | EPDNEW_H14152 | |||||||||
| Type: | initiation region | |||||||||
| Name: | PNPLA7_3 | |||||||||
| Description: | patatin like phospholipase domain containing 7 | |||||||||
| 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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| RGD ID: | 7216815 | |||||||||
| Promoter ID: | EPDNEW_H14153 | |||||||||
| Type: | initiation region | |||||||||
| Name: | PNPLA7_1 | |||||||||
| Description: | patatin like phospholipase domain containing 7 | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | |||||||||
| Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | |||||||||
| Position: |
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| RGD ID: | 7216819 | |||||||||
| Promoter ID: | EPDNEW_H14155 | |||||||||
| Type: | multiple initiation site | |||||||||
| Name: | PNPLA7_2 | |||||||||
| Description: | patatin like phospholipase domain containing 7 | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | |||||||||
| Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | |||||||||
| Position: |
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| RGD ID: | 6807525 | |||||||||
| Promoter ID: | HG_KWN:65758 | |||||||||
| Type: | CpG-Island | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | MPROMDB | |||||||||
| Tissues & Cell Lines: | K562, Lymphoblastoid | |||||||||
| Transcripts: | ENST00000371446, ENST00000371450, ENST00000371451, NM_001098537, NM_152286 | |||||||||
| Position: |
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Clinical Variants| Name | Type | Condition(s) | Position(s) | Clinical significance |
| GRCh38/hg38 9q34.3(chr9:137484248-137696525)x3 | copy number gain | See cases [RCV000052889] | Chr9:137484248..137696525 [GRCh38] Chr9:9q34.3 |
uncertain significance |
| GRCh38/hg38 9q34.3(chr9:136323974-138014606)x1 | copy number loss | Sensorineural hearing loss [RCV000050344]|See cases [RCV000050344] | Chr9:136323974..138014606 [GRCh38] Chr9:139218428..140909058 [GRCh37] Chr9:138338249..140028879 [NCBI36] Chr9:9q34.3 |
pathogenic |
| 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 9q33.2-34.3(chr9:121112395-138075224)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051009]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051009]|See cases [RCV000051009] | Chr9:121112395..138075224 [GRCh38] Chr9:123874673..140969676 [GRCh37] Chr9:122914494..140089497 [NCBI36] Chr9:9q33.2-34.3 |
pathogenic |
| GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051040]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051040]|See cases [RCV000051040] | Chr9:122792658..138124532 [GRCh38] Chr9:125554937..141018984 [GRCh37] Chr9:124594758..140138805 [NCBI36] Chr9:9q33.2-34.3 |
pathogenic |
| GRCh38/hg38 9q34.3(chr9:136323974-138124532)x1 | copy number loss | Intellectual functioning disability [RCV000051116]|See cases [RCV000051116] | Chr9:136323974..138124532 [GRCh38] Chr9:139218428..141018984 [GRCh37] Chr9:138338249..140138805 [NCBI36] Chr9:9q34.3 |
pathogenic |
| GRCh38/hg38 9q34.2-34.3(chr9:134428674-138154922)x1 | copy number loss | Talipes equinovarus [RCV000052936]|See cases [RCV000052936] | Chr9:134428674..138154922 [GRCh38] Chr9:137320520..141049374 [GRCh37] Chr9:136460341..140169195 [NCBI36] Chr9:9q34.2-34.3 |
pathogenic |
| GRCh38/hg38 9q34.3(chr9:137345965-137640771)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052888]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052888]|See cases [RCV000052888] | Chr9:137345965..137640771 [GRCh38] Chr9:140240417..140535223 [GRCh37] Chr9:139360238..139655044 [NCBI36] Chr9:9q34.3 |
uncertain significance |
| GRCh38/hg38 9q34.3(chr9:137484248-137696525)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052889]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052889]|See cases [RCV000052889] | Chr9:137484248..137696525 [GRCh38] Chr9:140378700..140590977 [GRCh37] Chr9:139498521..139710798 [NCBI36] Chr9:9q34.3 |
uncertain significance |
| GRCh38/hg38 9q34.3(chr9:137215877-137830604)x1 | copy number loss | Talipes equinovarus [RCV000052951]|See cases [RCV000052951] | Chr9:137215877..137830604 [GRCh38] Chr9:140110329..140725056 [GRCh37] Chr9:139230150..139844877 [NCBI36] Chr9:9q34.3 |
pathogenic |
| GRCh38/hg38 9q34.3(chr9:137484248-138179445)x1 | copy number loss | Global developmental delay [RCV000052952]|See cases [RCV000052952] | Chr9:137484248..138179445 [GRCh38] Chr9:140378700..141073897 [GRCh37] Chr9:139498521..140193718 [NCBI36] Chr9:9q34.3 |
pathogenic |
| GRCh38/hg38 9q34.3(chr9:137514943-138121473)x1 | copy number loss | Corpus callosum agenesis [RCV000052953]|See cases [RCV000052953] | Chr9:137514943..138121473 [GRCh38] Chr9:140409395..141015925 [GRCh37] Chr9:139529216..140135746 [NCBI36] Chr9:9q34.3 |
pathogenic |
| GRCh38/hg38 9q34.3(chr9:135452016-137613738)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052937]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052937]|See cases [RCV000052937] | Chr9:135452016..137613738 [GRCh38] Chr9:138343862..140508190 [GRCh37] Chr9:137483683..139628011 [NCBI36] Chr9:9q34.3 |
pathogenic |
| GRCh38/hg38 9q34.3(chr9:136015976-138124532)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052938]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052938]|See cases [RCV000052938] | Chr9:136015976..138124532 [GRCh38] Chr9:138907822..141018984 [GRCh37] Chr9:138047643..140138805 [NCBI36] Chr9:9q34.3 |
pathogenic |
| GRCh38/hg38 9q34.3(chr9:136926575-138114463)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052940]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052940]|See cases [RCV000052940] | Chr9:136926575..138114463 [GRCh38] Chr9:139821027..141008915 [GRCh37] Chr9:138940848..140128736 [NCBI36] Chr9:9q34.3 |
pathogenic |
| GRCh38/hg38 9q34.3(chr9:137215877-138138735)x1 | copy number loss | Pectus excavatum [RCV000052941]|See cases [RCV000052941] | Chr9:137215877..138138735 [GRCh38] Chr9:140110329..141033187 [GRCh37] Chr9:139230150..140153008 [NCBI36] Chr9:9q34.3 |
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-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(chr9:193412-138179445)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 9q34.2-34.3(chr9:134174698-138138735)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053814]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053814]|See cases [RCV000053814] | Chr9:134174698..138138735 [GRCh38] Chr9:137091194..141033187 [GRCh37] Chr9:136029641..140153008 [NCBI36] Chr9:9q34.2-34.3 |
pathogenic |
| GRCh38/hg38 9q33.2-34.3(chr9:121586837-138179445)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053776]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053776]|See cases [RCV000053776] | Chr9:121586837..138179445 [GRCh38] Chr9:124349116..141073897 [GRCh37] Chr9:123388937..140193718 [NCBI36] Chr9:9q33.2-34.3 |
pathogenic |
| NM_001098537.2(PNPLA7):c.3861G>A (p.Thr1287=) | single nucleotide variant | Malignant melanoma [RCV000061913] | Chr9:137460718 [GRCh38] Chr9:140355170 [GRCh37] Chr9:139474991 [NCBI36] Chr9:9q34.3 |
not provided |
| 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 9q34.11-34.3(chr9:130513207-138124532)x3 | copy number gain | See cases [RCV000133778] | Chr9:130513207..138124532 [GRCh38] Chr9:133388594..141018984 [GRCh37] Chr9:132378415..140138805 [NCBI36] Chr9:9q34.11-34.3 |
pathogenic |
| GRCh38/hg38 9q34.11-34.3(chr9:129068560-138179445)x3 | copy number gain | See cases [RCV000134916] | Chr9:129068560..138179445 [GRCh38] Chr9:131830839..141073897 [GRCh37] Chr9:130870660..140193718 [NCBI36] Chr9:9q34.11-34.3 |
pathogenic |
| GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3 | copy number gain | See cases [RCV000134920] | Chr9:121073102..138179445 [GRCh38] Chr9:123835380..141073897 [GRCh37] Chr9:122875201..140193718 [NCBI36] Chr9:9q33.2-34.3 |
pathogenic |
| GRCh38/hg38 9q34.3(chr9:137391682-138114463)x3 | copy number gain | See cases [RCV000136863] | Chr9:137391682..138114463 [GRCh38] Chr9:140286134..141008915 [GRCh37] Chr9:139405955..140128736 [NCBI36] Chr9:9q34.3 |
pathogenic |
| GRCh38/hg38 9q34.13-34.3(chr9:132986903-138114463)x3 | copy number gain | See cases [RCV000136790] | Chr9:132986903..138114463 [GRCh38] Chr9:135862290..141008915 [GRCh37] Chr9:134852111..140128736 [NCBI36] Chr9:9q34.13-34.3 |
pathogenic |
| GRCh38/hg38 9q34.2-34.3(chr9:133504071-138159073)x3 | copy number gain | See cases [RCV000137825] | Chr9:133504071..138159073 [GRCh38] Chr9:136324358..141053525 [GRCh37] Chr9:135314179..140173346 [NCBI36] Chr9:9q34.2-34.3 |
pathogenic |
| GRCh38/hg38 9q34.3(chr9:137513120-138159073)x1 | copy number loss | See cases [RCV000137748] | Chr9:137513120..138159073 [GRCh38] Chr9:140407572..141053525 [GRCh37] Chr9:139527393..140173346 [NCBI36] Chr9:9q34.3 |
uncertain significance |
| 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 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 |
| 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 9q34.3(chr9:137372891-137757091)x3 | copy number gain | See cases [RCV000140110] | Chr9:137372891..137757091 [GRCh38] Chr9:140267343..140651543 [GRCh37] Chr9:139387164..139771364 [NCBI36] Chr9:9q34.3 |
uncertain significance |
| GRCh38/hg38 9q34.2-34.3(chr9:133996227-138124524)x3 | copy number gain | See cases [RCV000139807] | Chr9:133996227..138124524 [GRCh38] Chr9:136861349..141018976 [GRCh37] Chr9:135851170..140138797 [NCBI36] Chr9:9q34.2-34.3 |
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 9q34.2-34.3(chr9:133918071-138159073)x3 | copy number gain | See cases [RCV000142955] | Chr9:133918071..138159073 [GRCh38] Chr9:136783193..141053525 [GRCh37] Chr9:135773014..140173346 [NCBI36] Chr9:9q34.2-34.3 |
pathogenic |
| GRCh38/hg38 9q34.3(chr9:136877772-138124524)x1 | copy number loss | See cases [RCV000142978] | Chr9:136877772..138124524 [GRCh38] Chr9:139772224..141018976 [GRCh37] Chr9:138892045..140138797 [NCBI36] Chr9:9q34.3 |
pathogenic |
| GRCh38/hg38 9q34.13-34.3(chr9:132386553-138059695)x3 | copy number gain | See cases [RCV000142636] | Chr9:132386553..138059695 [GRCh38] Chr9:135261940..140954147 [GRCh37] Chr9:134251761..140073968 [NCBI36] Chr9:9q34.13-34.3 |
pathogenic |
| GRCh38/hg38 9q34.3(chr9:135704780-138125937)x4 | copy number gain | See cases [RCV000143394] | Chr9:135704780..138125937 [GRCh38] Chr9:138596626..141020389 [GRCh37] Chr9:137736447..140140210 [NCBI36] Chr9:9q34.3 |
likely pathogenic |
| GRCh38/hg38 9q34.3(chr9:137345965-138159083)x1 | copy number loss | See cases [RCV000143327] | Chr9:137345965..138159083 [GRCh38] Chr9:140240417..141053535 [GRCh37] Chr9:139360238..140173356 [NCBI36] Chr9:9q34.3 |
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 9q34.3(chr9:136323974-138014606)x1 | copy number loss | See cases [RCV000148284] | Chr9:136323974..138014606 [GRCh38] Chr9:139218428..140909058 [GRCh37] Chr9:138338249..140028879 [NCBI36] Chr9:9q34.3 |
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 |
| 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 9q34.3(chr9:140370160-140521158)x1 | copy number loss | not provided [RCV000753258] | Chr9:140370160..140521158 [GRCh37] Chr9:9q34.3 |
benign |
| 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 9q34.3(chr9:140309120-141018925)x1 | copy number loss | See cases [RCV000449201] | Chr9:140309120..141018925 [GRCh37] Chr9:9q34.3 |
pathogenic |
| GRCh37/hg19 9q34.3(chr9:138222049-141018925)x1 | copy number loss | See cases [RCV000446074] | Chr9:138222049..141018925 [GRCh37] Chr9:9q34.3 |
pathogenic |
| GRCh37/hg19 9q34.3(chr9:140444759-140878805)x1 | copy number loss | See cases [RCV000446849] | Chr9:140444759..140878805 [GRCh37] Chr9:9q34.3 |
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 9q34.3(chr9:140444759-140730408)x1 | copy number loss | See cases [RCV000446742] | Chr9:140444759..140730408 [GRCh37] Chr9:9q34.3 |
pathogenic |
| GRCh37/hg19 9q34.3(chr9:140043049-141020389)x1 | copy number loss | See cases [RCV000446191] | Chr9:140043049..141020389 [GRCh37] Chr9:9q34.3 |
pathogenic |
| GRCh37/hg19 9q33.3-34.3(chr9:128652785-141044751)x3 | copy number gain | See cases [RCV000447080] | Chr9:128652785..141044751 [GRCh37] Chr9:9q33.3-34.3 |
pathogenic |
| GRCh37/hg19 9q33.2-34.3(chr9:124642754-141146461)x3 | copy number gain | See cases [RCV000448784] | Chr9:124642754..141146461 [GRCh37] Chr9:9q33.2-34.3 |
pathogenic |
| GRCh37/hg19 9q34.3(chr9:139282807-141020389)x1 | copy number loss | See cases [RCV000448743] | Chr9:139282807..141020389 [GRCh37] Chr9:9q34.3 |
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 9q34.3(chr9:138209358-141020389)x1 | copy number loss | See cases [RCV000510584] | Chr9:138209358..141020389 [GRCh37] Chr9:9q34.3 |
pathogenic |
| GRCh37/hg19 9q34.3(chr9:138275621-141020389)x3 | copy number gain | See cases [RCV000511188] | Chr9:138275621..141020389 [GRCh37] Chr9:9q34.3 |
likely pathogenic |
| GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928) | copy number gain | Global developmental delay [RCV000626548]|Seizures [RCV000626548] | Chr9:71069743..140999928 [GRCh37] Chr9:9q21.11-34.3 |
likely pathogenic |
| GRCh37/hg19 9q34.13-34.3(chr9:135377559-141213431)x1 | copy number loss | mTOR Inhibitor response [RCV000626442] | Chr9:135377559..141213431 [GRCh37] Chr9:9q34.13-34.3 |
drug response |
| 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 9q34.3(chr9:140366594-141020389)x1 | copy number loss | not provided [RCV000683137] | Chr9:140366594..141020389 [GRCh37] Chr9:9q34.3 |
pathogenic |
| GRCh37/hg19 9q34.13-34.3(chr9:135105971-141020389)x3 | copy number gain | not provided [RCV000683160] | Chr9:135105971..141020389 [GRCh37] Chr9:9q34.13-34.3 |
pathogenic |
| GRCh37/hg19 9q34.3(chr9:140311092-140355188)x3 | copy number gain | not provided [RCV000753256] | Chr9:140311092..140355188 [GRCh37] Chr9:9q34.3 |
benign |
| GRCh37/hg19 9q34.3(chr9:140348401-140463729)x1 | copy number loss | not provided [RCV000753257] | Chr9:140348401..140463729 [GRCh37] Chr9:9q34.3 |
uncertain significance |
| GRCh37/hg19 9q34.3(chr9:140274255-140357162)x3 | copy number gain | not provided [RCV000753251] | Chr9:140274255..140357162 [GRCh37] Chr9:9q34.3 |
benign |
| GRCh37/hg19 9q34.3(chr9:140289766-140356687)x3 | copy number gain | not provided [RCV000753252] | Chr9:140289766..140356687 [GRCh37] Chr9:9q34.3 |
benign |
| 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 9q34.3(chr9:137816459-141114095)x1 | copy number loss | not provided [RCV000748787] | Chr9:137816459..141114095 [GRCh37] Chr9:9q34.3 |
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 |
| 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 9q34.3(chr9:140064816-140759229)x3 | copy number gain | not provided [RCV000847406] | Chr9:140064816..140759229 [GRCh37] Chr9:9q34.3 |
uncertain significance |
| GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3 | copy number gain | not provided [RCV000847808] | Chr9:71416475..141020389 [GRCh37] Chr9:9q21.11-34.3 |
pathogenic |
| GRCh37/hg19 9q34.3(chr9:140352402-140600693)x3 | copy number gain | not provided [RCV000849422] | Chr9:140352402..140600693 [GRCh37] Chr9:9q34.3 |
uncertain significance |
| GRCh37/hg19 9q34.3(chr9:140352241-140458904)x3 | copy number gain | not provided [RCV000845689] | Chr9:140352241..140458904 [GRCh37] Chr9:9q34.3 |
uncertain significance |
Additional Information
External Database Links| Database | Acc Id | Source(s) |
| AGR Gene | HGNC:24768 | AgrOrtholog |
| COSMIC | PNPLA7 | COSMIC |
| Ensembl Genes | ENSG00000130653 | ENTREZGENE, UniProtKB/Swiss-Prot |
| Ensembl Protein | ENSP00000277531 | ENTREZGENE, UniProtKB/Swiss-Prot |
| ENSP00000384610 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENSP00000436165 | UniProtKB/TrEMBL | |
| Ensembl Transcript | ENST00000277531 | ENTREZGENE, UniProtKB/Swiss-Prot |
| ENST00000406427 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENST00000491019 | UniProtKB/TrEMBL | |
| Gene3D-CATH | 2.60.120.10 | UniProtKB/Swiss-Prot |
| GTEx | ENSG00000130653 | GTEx |
| HGNC ID | HGNC:24768 | ENTREZGENE |
| Human Proteome Map | PNPLA7 | Human Proteome Map |
| InterPro | Acyl_Trfase/lysoPLipase | UniProtKB/Swiss-Prot |
| cNMP-bd-like | UniProtKB/Swiss-Prot | |
| cNMP-bd_dom | UniProtKB/Swiss-Prot | |
| PNPLA_dom | UniProtKB/Swiss-Prot | |
| RmlC-like_jellyroll | UniProtKB/Swiss-Prot | |
| KEGG Report | hsa:375775 | UniProtKB/Swiss-Prot |
| NCBI Gene | 375775 | ENTREZGENE |
| OMIM | 612122 | OMIM |
| Pfam | cNMP_binding | UniProtKB/Swiss-Prot |
| Patatin | UniProtKB/Swiss-Prot | |
| PharmGKB | PA134935962 | PharmGKB |
| PROSITE | CNMP_BINDING_3 | UniProtKB/Swiss-Prot |
| PNPLA | UniProtKB/Swiss-Prot | |
| SMART | cNMP | UniProtKB/Swiss-Prot |
| Superfamily-SCOP | SSF51206 | UniProtKB/Swiss-Prot |
| SSF52151 | UniProtKB/Swiss-Prot | |
| UniGene | Hs.294147 | ENTREZGENE |
| UniProt | F2Z2D4_HUMAN | UniProtKB/TrEMBL |
| PLPL7_HUMAN | UniProtKB/Swiss-Prot, ENTREZGENE | |
| UniProt Secondary | B5MDD3 | UniProtKB/Swiss-Prot |
| Q5T364 | UniProtKB/Swiss-Prot | |
| Q658X0 | UniProtKB/Swiss-Prot | |
| Q658Y3 | UniProtKB/Swiss-Prot | |
| Q6ZTS1 | UniProtKB/Swiss-Prot | |
| Q86YU8 | UniProtKB/Swiss-Prot | |
| Q8TAY5 | UniProtKB/Swiss-Prot | |
| Q96N75 | UniProtKB/Swiss-Prot | |
| Q9H7N5 | UniProtKB/Swiss-Prot |
Nomenclature History| Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
|---|---|---|---|---|---|---|---|
| 2015-12-01 | PNPLA7 | patatin like phospholipase domain containing 7 | patatin-like phospholipase domain containing 7 | Symbol and/or name change | 5135510 | APPROVED | |
| 2011-09-01 | PNPLA7 | patatin-like phospholipase domain containing 7 | PNPLA7 | patatin-like phospholipase domain containing 7 | Symbol and/or name change | 5135510 | APPROVED |
 |
| More on PNPLA7 | |
|
Alliance Gene |
|
NCBI Gene |
|
Ensembl Gene |
|
|
JBrowse: hg19 hg38 |
|
HGNC Report |
|
NCBI Genome Data Viewer |
| CRRD Object Information | |
| CRRD ID: | 1353397 |
| Created: | 2005-03-08 |
| Species: | Homo sapiens |
| Last Modified: | 2019-11-26 |
| Status: | ACTIVE |
