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Imported Disease Annotations - OMIMTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 26 | | IAGP | | 7240710 | | OMIM | | |
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Imported Disease Annotations - OMIMTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 26 | | IAGP | | 7240710 | | OMIM | | |
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PMID:8125298 | PMID:12477932 | PMID:14574404 | PMID:15489334 | PMID:17207965 | PMID:18391951 | PMID:19448622 | PMID:19913121 | PMID:20546612 | PMID:20627872 | PMID:20628086 | PMID:21654844 |
PMID:21873635 | PMID:22654436 | PMID:28514442 | PMID:28939104 | PMID:31610034 |
POPDC3 (Homo sapiens - human) |
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Popdc3 (Mus musculus - house mouse) |
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Popdc3 (Rattus norvegicus - Norway rat) |
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Popdc3 (Chinchilla lanigera - long-tailed chinchilla) |
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POPDC3 (Pan paniscus - bonobo/pygmy chimpanzee) |
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POPDC3 (Canis lupus familiaris - dog) |
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Popdc3 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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POPDC3 (Sus scrofa - pig) |
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POPDC3 (Chlorocebus sabaeus - African green monkey) |
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Popdc3 (Heterocephalus glaber - naked mole-rat) |
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WI-15170 |
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RH93144 |
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AL008740 |
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RH46697 |
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POPDC3__5747 |
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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. |
alimentary part of gastrointestinal system | circulatory system | endocrine system | exocrine system | hemolymphoid system | hepatobiliary system | integumental system | musculoskeletal system | nervous system | renal system | reproductive system | respiratory system | sensory system | visual system | adipose tissue | appendage | entire extraembryonic component | pharyngeal arch | |
High | ||||||||||||||||||
Medium | 67 | 631 | 150 | 18 | 19 | 13 | 1200 | 1127 | 960 | 22 | 262 | 164 | 16 | 1 | 1093 | 1 | ||
Low | 1975 | 1457 | 495 | 119 | 342 | 31 | 1500 | 1017 | 2586 | 76 | 851 | 652 | 90 | 1 | 449 | 1015 | 4 | 2 |
Below cutoff | 332 | 491 | 811 | 274 | 852 | 205 | 1571 | 41 | 184 | 189 | 317 | 759 | 69 | 744 | 651 | 1 |
RefSeq Acc Id: | ENST00000254765 ⟹ ENSP00000254765 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000429112 ⟹ ENSP00000414409 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000474760 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000489134 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_022361 ⟹ NP_071756 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NR_024539 | ||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
Type: | NON-CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_011536067 ⟹ XP_011534369 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_017011194 ⟹ XP_016866683 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_017011195 ⟹ XP_016866684 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NP_071756 ⟸ NM_022361 |
- UniProtKB: | Q9HBV1 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_011534369 ⟸ XM_011536067 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q9HBV1 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_016866683 ⟸ XM_017011194 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q9HBV1 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_016866684 ⟸ XM_017011195 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q9HBV1 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | ENSP00000254765 ⟸ ENST00000254765 |
RefSeq Acc Id: | ENSP00000414409 ⟸ ENST00000429112 |
RGD ID: | 7208785 | ||||||||
Promoter ID: | EPDNEW_H10138 | ||||||||
Type: | initiation region | ||||||||
Name: | POPDC3_2 | ||||||||
Description: | popeye domain containing 3 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H10139 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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RGD ID: | 7208787 | ||||||||
Promoter ID: | EPDNEW_H10139 | ||||||||
Type: | initiation region | ||||||||
Name: | POPDC3_1 | ||||||||
Description: | popeye domain containing 3 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H10138 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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RGD ID: | 6804566 | ||||||||
Promoter ID: | HG_KWN:54480 | ||||||||
Type: | Non-CpG | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | K562 | ||||||||
Transcripts: | UC003PRA.1 | ||||||||
Position: |
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RGD ID: | 6804546 | ||||||||
Promoter ID: | HG_KWN:54481 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | HeLa_S3, NB4 | ||||||||
Transcripts: | OTTHUMT00000041652, UC003PRB.1 | ||||||||
Position: |
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Name | Type | Condition(s) | Position(s) | Clinical significance |
NM_022361.4(POPDC3):c.360G>A (p.Gly120=) | single nucleotide variant | Malignant melanoma [RCV000067057] | Chr6:105161550 [GRCh38] Chr6:105609425 [GRCh37] Chr6:105716118 [NCBI36] Chr6:6q21 |
not provided |
NM_022361.4(POPDC3):c.384G>A (p.Thr128=) | single nucleotide variant | Malignant melanoma [RCV000061287] | Chr6:105161526 [GRCh38] Chr6:105609401 [GRCh37] Chr6:105716094 [NCBI36] Chr6:6q21 |
not provided |
NM_022361.4(POPDC3):c.80G>A (p.Gly27Glu) | single nucleotide variant | Malignant melanoma [RCV000061288] | Chr6:105161830 [GRCh38] Chr6:105609705 [GRCh37] Chr6:105716398 [NCBI36] Chr6:6q21 |
not provided |
GRCh38/hg38 6q16.3-21(chr6:102356502-111049879)x1 | copy number loss | See cases [RCV000134806] | Chr6:102356502..111049879 [GRCh38] Chr6:102804377..111371082 [GRCh37] Chr6:102911070..111477775 [NCBI36] Chr6:6q16.3-21 |
pathogenic |
GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3 | copy number gain | See cases [RCV000139729] | Chr6:74382807..142040500 [GRCh38] Chr6:75092523..142361637 [GRCh37] Chr6:75149243..142403330 [NCBI36] Chr6:6q13-24.1 |
pathogenic |
GRCh38/hg38 6q16.1-22.31(chr6:96609994-122161548)x1 | copy number loss | See cases [RCV000139465] | Chr6:96609994..122161548 [GRCh38] Chr6:97057870..122482694 [GRCh37] Chr6:97164591..122524393 [NCBI36] Chr6:6q16.1-22.31 |
pathogenic |
GRCh38/hg38 6q16.3-21(chr6:103279465-113934239)x1 | copy number loss | See cases [RCV000142287] | Chr6:103279465..113934239 [GRCh38] Chr6:103727340..114255403 [GRCh37] Chr6:103834033..114362096 [NCBI36] Chr6:6q16.3-21 |
pathogenic |
GRCh38/hg38 6q16.3-22.31(chr6:100054889-120488154)x1 | copy number loss | See cases [RCV000143227] | Chr6:100054889..120488154 [GRCh38] Chr6:100502765..120809300 [GRCh37] Chr6:100609486..120850999 [NCBI36] Chr6:6q16.3-22.31 |
pathogenic |
GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687)x1 | copy number loss | See cases [RCV000445666] | Chr6:85988428..120548687 [GRCh37] Chr6:6q14.3-22.31 |
pathogenic |
GRCh37/hg19 6q21(chr6:105550491-107378236)x1 | copy number loss | See cases [RCV000448307] | Chr6:105550491..107378236 [GRCh37] Chr6:6q21 |
uncertain significance |
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 | copy number gain | See cases [RCV000512067] | Chr6:156975..170919482 [GRCh37] Chr6:6p25.3-q27 |
pathogenic |
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) | copy number gain | See cases [RCV000510595] | Chr6:156975..170919482 [GRCh37] Chr6:6p25.3-q27 |
pathogenic |
GRCh37/hg19 6q16.1-21(chr6:97384446-110247755)x1 | copy number loss | See cases [RCV000510703] | Chr6:97384446..110247755 [GRCh37] Chr6:6q16.1-21 |
pathogenic |
GRCh37/hg19 6q16.1-21(chr6:94202605-109878834)x1 | copy number loss | See cases [RCV000512470] | Chr6:94202605..109878834 [GRCh37] Chr6:6q16.1-21 |
pathogenic |
GRCh37/hg19 6q16.1-22.1(chr6:95549951-116684929)x1 | copy number loss | not provided [RCV000682693] | Chr6:95549951..116684929 [GRCh37] Chr6:6q16.1-22.1 |
pathogenic |
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 | copy number gain | not provided [RCV000745400] | Chr6:60107..171054786 [GRCh37] Chr6:6p25.3-q27 |
pathogenic |
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 | copy number gain | not provided [RCV000745404] | Chr6:165632..170919470 [GRCh37] Chr6:6p25.3-q27 |
pathogenic |
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 | copy number gain | not provided [RCV000745403] | Chr6:108666..170980171 [GRCh37] Chr6:6p25.3-q27 |
pathogenic |
NM_022361.5(POPDC3):c.12T>C (p.Asn4=) | single nucleotide variant | not provided [RCV000958863] | Chr6:105161898 [GRCh38] Chr6:105609773 [GRCh37] Chr6:6q21 |
benign |
NM_022361.5(POPDC3):c.516G>A (p.Leu172=) | single nucleotide variant | not provided [RCV000958862] | Chr6:105159789 [GRCh38] Chr6:105607664 [GRCh37] Chr6:6q21 |
benign |
GRCh37/hg19 6q21(chr6:105538029-105659133)x1 | copy number loss | not provided [RCV000848904] | Chr6:105538029..105659133 [GRCh37] Chr6:6q21 |
uncertain significance |
NM_022361.5(POPDC3):c.395G>A (p.Ser132Asn) | single nucleotide variant | not provided [RCV000889608] | Chr6:105161515 [GRCh38] Chr6:105609390 [GRCh37] Chr6:6q21 |
benign |
GRCh37/hg19 6q21(chr6:105585683-106158458)x3 | copy number gain | not provided [RCV001007553] | Chr6:105585683..106158458 [GRCh37] Chr6:6q21 |
likely benign |
NM_022361.5(POPDC3):c.651A>T (p.Leu217Phe) | single nucleotide variant | MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 26 [RCV001078199] | Chr6:105158695 [GRCh38] Chr6:105606570 [GRCh37] Chr6:6q21 |
pathogenic |
NM_022361.5(POPDC3):c.782G>A (p.Arg261Gln) | single nucleotide variant | MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 26 [RCV001078197] | Chr6:105158564 [GRCh38] Chr6:105606439 [GRCh37] Chr6:6q21 |
pathogenic |
NM_022361.5(POPDC3):c.464T>A (p.Leu155His) | single nucleotide variant | MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 26 [RCV001078198] | Chr6:105161446 [GRCh38] Chr6:105609321 [GRCh37] Chr6:6q21 |
pathogenic |
GRCh37/hg19 6q16.3-22.1(chr6:101296547-117004249)x3 | copy number gain | Microcephaly [RCV001251053] | Chr6:101296547..117004249 [GRCh37] Chr6:6q16.3-22.1 |
pathogenic |
GRCh37/hg19 6q16.1-21(chr6:98949950-114533905)x1 | copy number loss | Deletion 6q16 q21 [RCV001263224] | Chr6:98949950..114533905 [GRCh37] Chr6:6q16.1-21 |
pathogenic |
Database | Acc Id | Source(s) |
AGR Gene | HGNC:17649 | AgrOrtholog |
COSMIC | POPDC3 | COSMIC |
Ensembl Genes | ENSG00000132429 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Protein | ENSP00000254765 | ENTREZGENE, UniProtKB/Swiss-Prot |
ENSP00000414409 | UniProtKB/TrEMBL | |
Ensembl Transcript | ENST00000254765 | ENTREZGENE, UniProtKB/Swiss-Prot |
ENST00000429112 | UniProtKB/TrEMBL | |
GTEx | ENSG00000132429 | GTEx |
HGNC ID | HGNC:17649 | ENTREZGENE |
Human Proteome Map | POPDC3 | Human Proteome Map |
InterPro | cNMP-bd-like | UniProtKB/Swiss-Prot |
Popeye_prot | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | hsa:64208 | UniProtKB/Swiss-Prot |
NCBI Gene | 64208 | ENTREZGENE |
OMIM | 605824 | OMIM |
618848 | OMIM | |
PANTHER | PTHR12101 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Pfam | Popeye | UniProtKB/Swiss-Prot |
PharmGKB | PA134935151 | PharmGKB |
Superfamily-SCOP | SSF51206 | UniProtKB/Swiss-Prot |
UniGene | Hs.458336 | ENTREZGENE |
UniProt | POPD3_HUMAN | UniProtKB/Swiss-Prot |
Q5T554_HUMAN | UniProtKB/TrEMBL | |
Q9HBV1 | ENTREZGENE | |
UniProt Secondary | B2RA98 | UniProtKB/Swiss-Prot |
Q5T3Y8 | UniProtKB/Swiss-Prot | |
Q8TBW6 | UniProtKB/Swiss-Prot |