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![]() Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | 1,2,4-trimethylbenzene | increases expression | ISO | RGD:620462 | 6480464 | pseudocumene results in increased expression of PIM3 protein | CTD | PMID:17337753 | 1,2-dichloroethane | decreases expression | ISO | RGD:731524 | 6480464 | ethylene dichloride results in decreased expression of PIM3 mRNA | CTD | PMID:28189721 | 17alpha-ethynylestradiol | increases expression | ISO | RGD:731524 | 6480464 | Ethinyl Estradiol results in increased expression of PIM3 mRNA | CTD | PMID:17942748 | 17alpha-ethynylestradiol | decreases expression | ISO | RGD:620462 | 6480464 | Ethinyl Estradiol results in decreased expression of PIM3 mRNA | CTD | PMID:17557909 | 17alpha-ethynylestradiol | increases expression | ISO | RGD:620462 | 6480464 | Ethinyl Estradiol results in increased expression of PIM3 mRNA | CTD | PMID:17351261 | 17alpha-ethynylestradiol | multiple interactions | ISO | RGD:731524 | 6480464 | [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of PIM3 mRNA | CTD | PMID:17942748 | 17beta-estradiol | affects expression | ISO | RGD:731524 | 6480464 | Estradiol affects the expression of PIM3 mRNA | CTD | PMID:15598610 | 17beta-estradiol | multiple interactions | EXP | | 6480464 | [Estradiol co-treated with TGFB1 protein] results in decreased expression of PIM3 mRNA | CTD | PMID:30165855 | 2,3,7,8-tetrachlorodibenzodioxine | multiple interactions | ISO | RGD:731524 | 6480464 | [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of PIM3 mRNA | CTD | PMID:17942748 | 2,3,7,8-tetrachlorodibenzodioxine | affects expression | ISO | RGD:731524 | 6480464 | Tetrachlorodibenzodioxin affects the expression of PIM3 mRNA | CTD | PMID:21570461 | 2,3,7,8-tetrachlorodibenzodioxine | decreases expression | EXP | | 6480464 | Tetrachlorodibenzodioxin results in decreased expression of PIM3 mRNA | CTD | PMID:20106945, PMID:21632981 | 2,3,7,8-tetrachlorodibenzodioxine | decreases expression | ISO | RGD:620462 | 6480464 | Tetrachlorodibenzodioxin results in decreased expression of PIM3 mRNA | CTD | PMID:21215274 | 2,3,7,8-tetrachlorodibenzodioxine | affects expression | ISO | RGD:620462 | 6480464 | Tetrachlorodibenzodioxin affects the expression of PIM3 mRNA | CTD | PMID:22298810 | 2,6-dinitrotoluene | affects expression | ISO | RGD:620462 | 6480464 | 2, 6-dinitrotoluene affects the expression of PIM3 mRNA | CTD | PMID:21346803 | 3,4-methylenedioxymethamphetamine | increases expression | ISO | RGD:731524 | 6480464 | N-Methyl-3, 4-methylenedioxyamphetamine results in increased expression of PIM3 mRNA | CTD | PMID:20188158 | benzo[a]pyrene | increases expression | ISO | RGD:731524 | 6480464 | Benzo(a)pyrene results in increased expression of PIM3 mRNA | CTD | PMID:19770486 more ... | bis(2-ethylhexyl) phthalate | increases expression | ISO | RGD:731524 | 6480464 | Diethylhexyl Phthalate results in increased expression of PIM3 mRNA | CTD | PMID:19850644 | bis(2-ethylhexyl) phthalate | decreases expression | ISO | RGD:731524 | 6480464 | Diethylhexyl Phthalate results in decreased expression of PIM3 mRNA | CTD | PMID:28085963 | bisphenol A | increases expression | ISO | RGD:620462 | 6480464 | bisphenol A results in increased expression of PIM3 mRNA | CTD | PMID:25181051 | bisphenol A | affects expression | EXP | | 6480464 | bisphenol A affects the expression of PIM3 mRNA | CTD | PMID:30903817 | buspirone | increases expression | ISO | RGD:620462 | 6480464 | Buspirone results in increased expression of PIM3 mRNA | CTD | PMID:24136188 | carbon nanotube | increases expression | ISO | RGD:731524 | 6480464 | Nanotubes, Carbon analog results in increased expression of PIM3 mRNA | CTD | PMID:25554681, PMID:25620056 | carbon nanotube | decreases expression | ISO | RGD:731524 | 6480464 | Nanotubes, Carbon results in decreased expression of PIM3 mRNA | CTD | PMID:25554681, PMID:25620056 | ciguatoxin CTX1B | affects expression | ISO | RGD:731524 | 6480464 | Ciguatoxins affects the expression of PIM3 mRNA | CTD | PMID:18353800 | clobetasol | increases expression | ISO | RGD:731524 | 6480464 | Clobetasol results in increased expression of PIM3 mRNA | CTD | PMID:27462272 | cobalt dichloride | increases expression | ISO | RGD:620462 | 6480464 | cobaltous chloride results in increased expression of PIM3 mRNA | CTD | PMID:24386269 | cocaine | affects expression | ISO | RGD:620462 | 6480464 | Cocaine affects the expression of PIM3 mRNA | CTD | PMID:20187946 | copper(II) sulfate | increases expression | EXP | | 6480464 | Copper Sulfate results in increased expression of PIM3 mRNA | CTD | PMID:19549813 | corticosterone | increases expression | ISO | RGD:620462 | 6480464 | Corticosterone results in increased expression of PIM3 mRNA | CTD | PMID:15755911 | crocidolite asbestos | increases expression | EXP | | 6480464 | Asbestos, Crocidolite results in increased expression of PIM3 mRNA | CTD | PMID:18687144 | crocidolite asbestos | affects expression | EXP | | 6480464 | Asbestos, Crocidolite affects the expression of PIM3 mRNA | CTD | PMID:24160326 | cyclosporin A | increases expression | EXP | | 6480464 | Cyclosporine results in increased expression of PIM3 mRNA | CTD | PMID:25562108, PMID:27989131 | dexamethasone | increases expression | ISO | RGD:620462 | 6480464 | Dexamethasone results in increased expression of PIM3 mRNA | CTD | PMID:20032058 | dexamethasone | multiple interactions | ISO | RGD:620462 | 6480464 | Testosterone inhibits the reaction [Dexamethasone results in increased expression of PIM3 mRNA] | CTD | PMID:20032058 | dibutyl phthalate | increases expression | ISO | RGD:620462 | 6480464 | Dibutyl Phthalate results in increased expression of PIM3 mRNA | CTD | PMID:21266533 | doxorubicin | decreases expression | EXP | | 6480464 | Doxorubicin results in decreased expression of PIM3 mRNA | CTD | PMID:29803840 | endosulfan | increases expression | ISO | RGD:620462 | 6480464 | Endosulfan results in increased expression of PIM3 mRNA | CTD | PMID:29391264 | fluoranthene | multiple interactions | ISO | RGD:731524 | 6480464 | [1-methylanthracene co-treated with fluoranthene] results in increased expression of PIM3 mRNA | CTD | PMID:28329830 | genistein | increases expression | ISO | RGD:620462 | 6480464 | Genistein results in increased expression of PIM3 mRNA | CTD | PMID:12075121 | hydrogen peroxide | affects expression | EXP | | 6480464 | Hydrogen Peroxide affects the expression of PIM3 mRNA | CTD | PMID:20044591 | isoprenaline | increases expression | ISO | RGD:731524 | 6480464 | Isoproterenol results in increased expression of PIM3 mRNA | CTD | PMID:20003209 | leflunomide | increases expression | EXP | | 6480464 | leflunomide results in increased expression of PIM3 mRNA | CTD | PMID:28988120 | methylmercury chloride | increases expression | EXP | | 6480464 | methylmercuric chloride results in increased expression of PIM3 mRNA | CTD | PMID:28001369 | naphthalenes | increases expression | ISO | RGD:620462 | 6480464 | Naphthalenes results in increased expression of PIM3 protein | CTD | PMID:17337753 | nefazodone | increases expression | ISO | RGD:620462 | 6480464 | nefazodone results in increased expression of PIM3 mRNA | CTD | PMID:24136188 | nickel atom | increases expression | EXP | | 6480464 | Nickel results in increased expression of PIM3 mRNA | CTD | PMID:23195993 | nimesulide | increases expression | ISO | RGD:620462 | 6480464 | nimesulide results in increased expression of PIM3 mRNA | CTD | PMID:24136188 | ozone | decreases expression | ISO | RGD:731524 | 6480464 | Ozone results in decreased expression of PIM3 mRNA | CTD | PMID:12763052 | paracetamol | affects expression | ISO | RGD:731524 | 6480464 | Acetaminophen affects the expression of PIM3 mRNA | CTD | PMID:17562736 | phenobarbital | multiple interactions | ISO | RGD:731524 | 6480464 | NR1I3 protein promotes the reaction [Phenobarbital results in decreased expression of PIM3 mRNA] | CTD | PMID:19850644 | phenobarbital | affects expression | ISO | RGD:731524 | 6480464 | Phenobarbital affects the expression of PIM3 mRNA | CTD | PMID:23091169 | phenobarbital | decreases expression | ISO | RGD:731524 | 6480464 | Phenobarbital results in decreased expression of PIM3 mRNA | CTD | PMID:19270015, PMID:19850644 | phenobarbital | increases expression | ISO | RGD:731524 | 6480464 | Phenobarbital results in increased expression of PIM3 mRNA | CTD | PMID:19270015 | pirinixic acid | multiple interactions | ISO | RGD:731524 | 6480464 | [pirinixic acid binds to and results in increased activity of PPARA protein] which results in increased expression of PIM3 mRNA, PPARA protein promotes the reaction [pirinixic acid results in decreased expression of PIM3 mRNA] | CTD | PMID:19710929, PMID:19850644 | pirinixic acid | increases expression | ISO | RGD:731524 | 6480464 | pirinixic acid results in increased expression of PIM3 mRNA | CTD | PMID:17426115 more ... | pregnenolone 16alpha-carbonitrile | increases expression | ISO | RGD:731524 | 6480464 | Pregnenolone Carbonitrile results in increased expression of PIM3 mRNA | CTD | PMID:28903501 | progesterone | increases expression | ISO | RGD:620462 | 6480464 | Progesterone results in increased expression of PIM3 mRNA | CTD | PMID:20726854 | rotenone | increases expression | ISO | RGD:620462 | 6480464 | Rotenone results in increased expression of PIM3 mRNA | CTD | PMID:28374803 | serpentine asbestos | affects expression | EXP | | 6480464 | Asbestos, Serpentine affects the expression of PIM3 mRNA | CTD | PMID:24160326 | silicon dioxide | increases expression | EXP | | 6480464 | Silicon Dioxide analog results in increased expression of PIM3 mRNA | CTD | PMID:25895662 | silicon dioxide | increases expression | ISO | RGD:731524 | 6480464 | Silicon Dioxide results in increased expression of PIM3 mRNA | CTD | PMID:19073995 | silver atom | increases expression | EXP | | 6480464 | Silver results in increased expression of PIM3 mRNA | CTD | PMID:26014281 | silver(0) | increases expression | EXP | | 6480464 | Silver results in increased expression of PIM3 mRNA | CTD | PMID:26014281 | testosterone | multiple interactions | ISO | RGD:620462 | 6480464 | Testosterone inhibits the reaction [Dexamethasone results in increased expression of PIM3 mRNA] | CTD | PMID:20032058 | titanium dioxide | decreases expression | ISO | RGD:620462 | 6480464 | titanium dioxide results in decreased expression of PIM3 mRNA | CTD | PMID:30012374 | tungsten | increases expression | ISO | RGD:731524 | 6480464 | Tungsten results in increased expression of PIM3 mRNA | CTD | PMID:30912803 | urethane | increases expression | EXP | | 6480464 | Urethane results in increased expression of PIM3 mRNA | CTD | PMID:28818685 | valproic acid | increases methylation | EXP | | 6480464 | Valproic Acid results in increased methylation of PIM3 gene | CTD | PMID:29154799 | valproic acid | affects expression | EXP | | 6480464 | Valproic Acid affects the expression of PIM3 mRNA | CTD | PMID:25979313 | vancomycin | increases expression | ISO | RGD:731524 | 6480464 | Vancomycin results in increased expression of PIM3 mRNA | CTD | PMID:18930951 | venlafaxine hydrochloride | decreases expression | ISO | RGD:620462 | 6480464 | Venlafaxine Hydrochloride results in decreased expression of PIM3 mRNA | CTD | PMID:25423262 | zinc atom | increases expression | ISO | RGD:620462 | 6480464 | Zinc results in increased expression of PIM3 mRNA | CTD | PMID:17074742 | zinc atom | multiple interactions | EXP | | 6480464 | [PCI 5002 co-treated with Zinc] results in increased expression of PIM3 mRNA | CTD | PMID:18593933 | zinc sulfate | increases expression | ISO | RGD:620462 | 6480464 | Zinc Sulfate results in increased expression of PIM3 mRNA | CTD | PMID:17074742 | zinc(0) | increases expression | ISO | RGD:620462 | 6480464 | Zinc results in increased expression of PIM3 mRNA | CTD | PMID:17074742 | zinc(0) | multiple interactions | EXP | | 6480464 | [PCI 5002 co-treated with Zinc] results in increased expression of PIM3 mRNA | CTD | PMID:18593933 | |
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1. | GOA_HUMAN data from the GO Consortium |
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 |
4. | Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11. |
PubMed | 10713710 12748291 12798037 15199164 15489334 15540201 16403219 17270021 18593906 19154409 19266083 19624871 20101231 20939820 21187426 21297633 21646687 21668797 21870113 21873635 22282239 22939624 23209281 23760491 23845873 24165482 24488669 24723452 24789328 24799066 24927181 25238262 25817345 25921139 26075720 26238203 26551340 26768612 27016481 27448973 27525970 27638830 27826135 27826617 28214201 28698206 28729093 29170467 31015445 |
PIM3 (Homo sapiens - human) |
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Pim3 (Mus musculus - house mouse) |
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Pim3 (Rattus norvegicus - Norway rat) |
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Pim3 (Chinchilla lanigera - long-tailed chinchilla) |
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PIM3 (Pan paniscus - bonobo/pygmy chimpanzee) |
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LOC100682773 (Canis lupus familiaris - dog) |
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Pim3 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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PIM3 (Sus scrofa - pig) |
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RH78485 |
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WI-11798 |
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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. |
RefSeq Transcripts | NM_001001852 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
GenBank Nucleotide | AB114795 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AK292005 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC017083 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC052239 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC064477 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC141855 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BX539320 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471138 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CR536608 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CT000425 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DB482257 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | NM_001001852 ⟹ NP_001001852 | |||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | |||||||||||||||||||||||||||||
Type: | CODING | |||||||||||||||||||||||||||||
Position: |
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Sequence: |
GAGAGCGTGAGCGCGGAGAGCGGACCGACGCGACACGCCGTGCGCCTCCGCGGCTGCGCTACGAhide sequence |
Protein RefSeqs | NP_001001852 | (Get FASTA) | NCBI Sequence Viewer |
GenBank Protein | AAH64477 | (Get FASTA) | NCBI Sequence Viewer |
AAI41856 | (Get FASTA) | NCBI Sequence Viewer | |
BAD42438 | (Get FASTA) | NCBI Sequence Viewer | |
BAF84694 | (Get FASTA) | NCBI Sequence Viewer | |
EAW73485 | (Get FASTA) | NCBI Sequence Viewer | |
Q86V86 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_001001852 ⟸ NM_001001852 |
- UniProtKB: | Q86V86 (UniProtKB/Swiss-Prot) |
- Sequence: |
MLLSKFGSLAHLCGPGGVDHLPVKILQPAKADKESFEKAYQVGAVLGSGGFGTVYAGSRIADGLhide sequence |
RGD ID: | 6800219 | |||||||||
Promoter ID: | HG_KWN:43326 | |||||||||
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: | OTTHUMT00000317406, OTTHUMT00000317407 | |||||||||
Position: |
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RGD ID: | 6800238 | |||||||||
Promoter ID: | HG_KWN:43327 | |||||||||
Type: | CpG-Island | |||||||||
SO ACC ID: | SO:0000170 | |||||||||
Source: | MPROMDB | |||||||||
Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, K562, Lymphoblastoid, NB4 | |||||||||
Transcripts: | UC003BJC.1 | |||||||||
Position: |
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RGD ID: | 13604492 | |||||||||
Promoter ID: | EPDNEW_H28430 | |||||||||
Type: | initiation region | |||||||||
Name: | PIM3_2 | |||||||||
Description: | Pim-3 proto-oncogene, serine/threonine kinase | |||||||||
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: | 13604494 | |||||||||
Promoter ID: | EPDNEW_H28431 | |||||||||
Type: | initiation region | |||||||||
Name: | PIM3_1 | |||||||||
Description: | Pim-3 proto-oncogene, serine/threonine kinase | |||||||||
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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Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 22q13.31-13.33(chr22:45239376-50739836)x1 | copy number loss | Global developmental delay [RCV000050935]|See cases [RCV000050935] | Chr22:45239376..50739836 [GRCh38] Chr22:45635257..51178264 [GRCh37] Chr22:44013921..49525130 [NCBI36] Chr22:22q13.31-13.33 |
pathogenic |
GRCh38/hg38 22q13.31-13.33(chr22:47705262-50739836)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050848]|Global developmental delay [RCV000050849]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050848]|See cases [RCV000050848] | Chr22:47705262..50739836 [GRCh38] Chr22:48101011..51178264 [GRCh37] Chr22:46479675..49525130 [NCBI36] Chr22:22q13.31-13.33 |
pathogenic |
GRCh38/hg38 22q13.2-13.33(chr22:42138114-50739836)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051370]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051370]|See cases [RCV000051370] | Chr22:42138114..50739836 [GRCh38] Chr22:42513525..51178264 [GRCh37] Chr22:40843471..49525130 [NCBI36] Chr22:22q13.2-13.33 |
pathogenic |
GRCh38/hg38 22q13.2-13.33(chr22:42433752-50738932)x1 | copy number loss | Macrocephaly [RCV000051371]|See cases [RCV000051371] | Chr22:42433752..50738932 [GRCh38] Chr22:42829758..51177360 [GRCh37] Chr22:41159702..49524226 [NCBI36] Chr22:22q13.2-13.33 |
pathogenic |
GRCh38/hg38 22q13.2-13.33(chr22:42826246-50739836)x1 | copy number loss | Global developmental delay [RCV000051407]|See cases [RCV000051407] | Chr22:42826246..50739836 [GRCh38] Chr22:43222252..51178264 [GRCh37] Chr22:41552196..49525130 [NCBI36] Chr22:22q13.2-13.33 |
pathogenic |
GRCh38/hg38 22q13.31-13.33(chr22:43807366-50739836)x1 | copy number loss | Global developmental delay [RCV000051408]|See cases [RCV000051408] | Chr22:43807366..50739836 [GRCh38] Chr22:44203246..51178264 [GRCh37] Chr22:42534579..49525130 [NCBI36] Chr22:22q13.31-13.33 |
pathogenic |
GRCh38/hg38 22q13.31-13.33(chr22:43993654-50739977)x1 | copy number loss | Gait disturbance [RCV000051409]|See cases [RCV000051409] | Chr22:43993654..50739977 [GRCh38] Chr22:44389534..51178405 [GRCh37] Chr22:42720867..49525271 [NCBI36] Chr22:22q13.31-13.33 |
pathogenic |
GRCh38/hg38 22q13.31-13.33(chr22:44740175-50739836)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051410]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051410]|See cases [RCV000051410] | Chr22:44740175..50739836 [GRCh38] Chr22:45136055..51178264 [GRCh37] Chr22:43514719..49525130 [NCBI36] Chr22:22q13.31-13.33 |
pathogenic |
GRCh38/hg38 22q13.31-13.33(chr22:45648256-50739836)x1 | copy number loss | Global developmental delay [RCV000051411]|See cases [RCV000051411] | Chr22:45648256..50739836 [GRCh38] Chr22:46044136..51178264 [GRCh37] Chr22:44422800..49525130 [NCBI36] Chr22:22q13.31-13.33 |
pathogenic |
GRCh38/hg38 22q13.31-13.33(chr22:47122613-50739836)x1 | copy number loss | Global developmental delay [RCV000051412]|See cases [RCV000051412] | Chr22:47122613..50739836 [GRCh38] Chr22:47518509..51178264 [GRCh37] Chr22:45897173..49525130 [NCBI36] Chr22:22q13.31-13.33 |
pathogenic |
GRCh38/hg38 22q13.31-13.33(chr22:47234701-50739836)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051413]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051413]|See cases [RCV000051413] | Chr22:47234701..50739836 [GRCh38] Chr22:47630451..51178264 [GRCh37] Chr22:46009115..49525130 [NCBI36] Chr22:22q13.31-13.33 |
pathogenic |
GRCh38/hg38 22q13.32-13.33(chr22:48138038-50739836)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051440]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051440]|See cases [RCV000051440] | Chr22:48138038..50739836 [GRCh38] Chr22:48533855..51178264 [GRCh37] Chr22:46912519..49525130 [NCBI36] Chr22:22q13.32-13.33 |
pathogenic |
GRCh38/hg38 22q13.32-13.33(chr22:48423668-50739836)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051441]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051441]|See cases [RCV000051441] | Chr22:48423668..50739836 [GRCh38] Chr22:48819480..51178264 [GRCh37] Chr22:47198144..49525130 [NCBI36] Chr22:22q13.32-13.33 |
pathogenic |
GRCh38/hg38 22q13.32-13.33(chr22:48654672-50739836)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051442]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051442]|See cases [RCV000051442] | Chr22:48654672..50739836 [GRCh38] Chr22:49050484..51178264 [GRCh37] Chr22:47436920..49525130 [NCBI36] Chr22:22q13.32-13.33 |
pathogenic |
GRCh38/hg38 22q13.33(chr22:49395349-50738932)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051443]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051443]|See cases [RCV000051443] | Chr22:49395349..50738932 [GRCh38] Chr22:49788999..51177360 [GRCh37] Chr22:48175003..49524226 [NCBI36] Chr22:22q13.33 |
pathogenic |
GRCh38/hg38 22q13.31-13.33(chr22:46065705-50739836)x1 | copy number loss | Failure to thrive [RCV000051098]|See cases [RCV000051098] | Chr22:46065705..50739836 [GRCh38] Chr22:46461585..51178264 [GRCh37] Chr22:44840249..49525130 [NCBI36] Chr22:22q13.31-13.33 |
pathogenic |
GRCh38/hg38 22q12.3-13.33(chr22:33768441-50739977)x3 | copy number gain | Failure to thrive [RCV000051682]|See cases [RCV000051682] | Chr22:33768441..50739977 [GRCh38] Chr22:34164428..51178405 [GRCh37] Chr22:32494428..49525271 [NCBI36] Chr22:22q12.3-13.33 |
pathogenic |
GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3 | copy number gain | Global developmental delay [RCV000051684]|See cases [RCV000051684] | Chr22:37061769..50738932 [GRCh38] Chr22:37457809..51177360 [GRCh37] Chr22:35787755..49524226 [NCBI36] Chr22:22q12.3-13.33 |
pathogenic |
GRCh38/hg38 22q13.2-13.33(chr22:42599757-50725241)x3 | copy number gain | Intrauterine growth retardation [RCV000051686]|See cases [RCV000051686] | Chr22:42599757..50725241 [GRCh38] Chr22:42995763..51163669 [GRCh37] Chr22:41325707..49510535 [NCBI36] Chr22:22q13.2-13.33 |
pathogenic |
GRCh38/hg38 22q13.2-13.33(chr22:42653747-50739836)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051687]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051687]|See cases [RCV000051687] | Chr22:42653747..50739836 [GRCh38] Chr22:43049753..51178264 [GRCh37] Chr22:41379697..49525130 [NCBI36] Chr22:22q13.2-13.33 |
pathogenic |
GRCh38/hg38 22q13.31-13.33(chr22:44700812-50739836)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051688]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051688]|See cases [RCV000051688] | Chr22:44700812..50739836 [GRCh38] Chr22:45096692..51178264 [GRCh37] Chr22:43475356..49525130 [NCBI36] Chr22:22q13.31-13.33 |
pathogenic |
GRCh38/hg38 22q13.31-13.33(chr22:44811200-50739836)x3 | copy number gain | Global developmental delay [RCV000051689]|See cases [RCV000051689] | Chr22:44811200..50739836 [GRCh38] Chr22:45207080..51178264 [GRCh37] Chr22:43585744..49525130 [NCBI36] Chr22:22q13.31-13.33 |
pathogenic |
GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3 | copy number gain | See cases [RCV000133646] | Chr22:16916608..50739836 [GRCh38] Chr22:17397498..51178264 [GRCh37] Chr22:15777498..49525130 [NCBI36] Chr22:22q11.1-13.33 |
pathogenic |
GRCh38/hg38 22q13.33(chr22:49378128-50739836)x1 | copy number loss | See cases [RCV000133859] | Chr22:49378128..50739836 [GRCh38] Chr22:49774048..51178264 [GRCh37] Chr22:48160052..49525130 [NCBI36] Chr22:22q13.33 |
pathogenic |
GRCh38/hg38 22q13.31-13.33(chr22:44606363-50739836)x1 | copy number loss | See cases [RCV000133865] | Chr22:44606363..50739836 [GRCh38] Chr22:45002243..51178264 [GRCh37] Chr22:43380907..49525130 [NCBI36] Chr22:22q13.31-13.33 |
pathogenic |
GRCh38/hg38 22q13.33(chr22:49315518-50739836)x1 | copy number loss | See cases [RCV000133707] | Chr22:49315518..50739836 [GRCh38] Chr22:49711443..51178264 [GRCh37] Chr22:48097447..49525130 [NCBI36] Chr22:22q13.33 |
pathogenic |
GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3 | copy number gain | See cases [RCV000134730] | Chr22:16916743..50739785 [GRCh38] Chr22:17397633..51178213 [GRCh37] Chr22:15777633..49525079 [NCBI36] Chr22:22q11.1-13.33 |
pathogenic |
GRCh38/hg38 22q13.1-13.33(chr22:40202014-50735806)x3 | copy number gain | See cases [RCV000134513] | Chr22:40202014..50735806 [GRCh38] Chr22:40598018..51174234 [GRCh37] Chr22:38927964..49521100 [NCBI36] Chr22:22q13.1-13.33 |
pathogenic |
GRCh38/hg38 22q13.33(chr22:49504768-50780581)x1 | copy number loss | See cases [RCV000135691] | Chr22:49504768..50780581 [GRCh38] Chr22:49898417..51203353 [GRCh37] Chr22:48284421..49565875 [NCBI36] Chr22:22q13.33 |
pathogenic |
GRCh38/hg38 22q13.31-13.33(chr22:43902561-50739836)x1 | copy number loss | See cases [RCV000135444] | Chr22:43902561..50739836 [GRCh38] Chr22:44298441..51178264 [GRCh37] Chr22:42629774..49525130 [NCBI36] Chr22:22q13.31-13.33 |
pathogenic |
GRCh38/hg38 22q13.31-13.33(chr22:46919818-50739836)x1 | copy number loss | See cases [RCV000135615] | Chr22:46919818..50739836 [GRCh38] Chr22:47315714..51178264 [GRCh37] Chr22:45694378..49525130 [NCBI36] Chr22:22q13.31-13.33 |
pathogenic |
GRCh38/hg38 22q13.31-13.33(chr22:44797239-50739836)x3 | copy number gain | See cases [RCV000136573] | Chr22:44797239..50739836 [GRCh38] Chr22:45193119..51178264 [GRCh37] Chr22:43571783..49525130 [NCBI36] Chr22:22q13.31-13.33 |
pathogenic |
GRCh38/hg38 22q13.31-13.33(chr22:43992879-50683114)x3 | copy number gain | See cases [RCV000136124] | Chr22:43992879..50683114 [GRCh38] Chr22:44388759..51121542 [GRCh37] Chr22:42720092..49468408 [NCBI36] Chr22:22q13.31-13.33 |
benign |
GRCh38/hg38 22q13.2-13.33(chr22:41871143-50739836)x1 | copy number loss | See cases [RCV000136921] | Chr22:41871143..50739836 [GRCh38] Chr22:42267147..51178264 [GRCh37] Chr22:40597093..49525130 [NCBI36] Chr22:22q13.2-13.33 |
pathogenic |
GRCh38/hg38 22q13.32-13.33(chr22:48614336-50739836)x1 | copy number loss | See cases [RCV000136941] | Chr22:48614336..50739836 [GRCh38] Chr22:49010148..51178264 [GRCh37] Chr22:47396711..49525130 [NCBI36] Chr22:22q13.32-13.33 |
pathogenic |
GRCh38/hg38 22q13.2-13.33(chr22:42710276-50739836)x3 | copy number gain | See cases [RCV000137136] | Chr22:42710276..50739836 [GRCh38] Chr22:43106282..51178264 [GRCh37] Chr22:41436226..49525130 [NCBI36] Chr22:22q13.2-13.33 |
pathogenic |
GRCh38/hg38 22q13.31-13.33(chr22:44764289-50739836)x1 | copy number loss | See cases [RCV000136894] | Chr22:44764289..50739836 [GRCh38] Chr22:45160169..51178264 [GRCh37] Chr22:43538833..49525130 [NCBI36] Chr22:22q13.31-13.33 |
pathogenic |
GRCh38/hg38 22q13.2-13.33(chr22:42493445-50268479)x1 | copy number loss | See cases [RCV000136786] | Chr22:42493445..50268479 [GRCh38] Chr22:42889451..50706908 [GRCh37] Chr22:41219395..49049035 [NCBI36] Chr22:22q13.2-13.33 |
pathogenic |
GRCh38/hg38 22q13.32-13.33(chr22:48500344-50780581)x1 | copy number loss | See cases [RCV000137377] | Chr22:48500344..50780581 [GRCh38] Chr22:48896156..51203353 [GRCh37] Chr22:47274820..49565875 [NCBI36] Chr22:22q13.32-13.33 |
pathogenic |
GRCh38/hg38 22q13.33(chr22:49535113-50780581)x1 | copy number loss | See cases [RCV000139655] | Chr22:49535113..50780581 [GRCh38] Chr22:49928762..51203353 [GRCh37] Chr22:48314766..49565875 [NCBI36] Chr22:22q13.33 |
pathogenic |
GRCh38/hg38 22q13.2-13.33(chr22:42837094-50735806)x1 | copy number loss | See cases [RCV000141415] | Chr22:42837094..50735806 [GRCh38] Chr22:43233100..51174234 [GRCh37] Chr22:41563044..49521100 [NCBI36] Chr22:22q13.2-13.33 |
pathogenic |
GRCh38/hg38 22q13.2-13.33(chr22:43187980-50745444)x1 | copy number loss | See cases [RCV000140901] | Chr22:43187980..50745444 [GRCh38] Chr22:43583986..51183872 [GRCh37] Chr22:41913930..49530738 [NCBI36] Chr22:22q13.2-13.33 |
pathogenic |
GRCh38/hg38 22q13.31-13.33(chr22:46732445-50780522)x1 | copy number loss | See cases [RCV000140772] | Chr22:46732445..50780522 [GRCh38] Chr22:47128342..51218950 [GRCh37] Chr22:45507006..49565816 [NCBI36] Chr22:22q13.31-13.33 |
pathogenic |
GRCh38/hg38 22q13.2-13.33(chr22:42380961-50759410)x3 | copy number gain | See cases [RCV000141659] | Chr22:42380961..50759410 [GRCh38] Chr22:42776967..51197838 [GRCh37] Chr22:41106911..49544704 [NCBI36] Chr22:22q13.2-13.33 |
pathogenic |
GRCh38/hg38 22q13.2-13.33(chr22:42080077-50739836)x3 | copy number gain | See cases [RCV000142755] | Chr22:42080077..50739836 [GRCh38] Chr22:42476081..51178264 [GRCh37] Chr22:40806027..49525130 [NCBI36] Chr22:22q13.2-13.33 |
pathogenic |
GRCh38/hg38 22q13.32-13.33(chr22:48241375-50739836)x1 | copy number loss | See cases [RCV000142589] | Chr22:48241375..50739836 [GRCh38] Chr22:48637187..51178264 [GRCh37] Chr22:47015851..49525130 [NCBI36] Chr22:22q13.32-13.33 |
pathogenic |
GRCh38/hg38 22q13.32-13.33(chr22:48904534-50138137)x3 | copy number gain | See cases [RCV000143711] | Chr22:48904534..50138137 [GRCh38] Chr22:49300346..50576566 [GRCh37] Chr22:47686350..48918693 [NCBI36] Chr22:22q13.32-13.33 |
uncertain significance |
GRCh38/hg38 22q13.33(chr22:49529760-50759410)x1 | copy number loss | See cases [RCV000143708] | Chr22:49529760..50759410 [GRCh38] Chr22:49923409..51197838 [GRCh37] Chr22:48309413..49544704 [NCBI36] Chr22:22q13.33 |
pathogenic |
GRCh38/hg38 22q13.31-13.33(chr22:46361165-50759299)x1 | copy number loss | See cases [RCV000143487] | Chr22:46361165..50759299 [GRCh38] Chr22:46757062..51197727 [GRCh37] Chr22:45135726..49544593 [NCBI36] Chr22:22q13.31-13.33 |
pathogenic |
GRCh37/hg19 22q13.31-13.33(chr22:45075720-51181759) | copy number loss | not provided [RCV000767746] | Chr22:45075720..51181759 [GRCh37] Chr22:22q13.31-13.33 |
pathogenic |
GRCh37/hg19 22q13.33(chr22:50318056-50437748)x3 | copy number gain | Ductal breast carcinoma [RCV000207176] | Chr22:50318056..50437748 [GRCh37] Chr22:22q13.33 |
uncertain significance |
GRCh37/hg19 22q13.33(chr22:50318056-50356682)x4 | copy number gain | Ductal breast carcinoma [RCV000207303] | Chr22:50318056..50356682 [GRCh37] Chr22:22q13.33 |
uncertain significance |
Single allele | deletion | Autism spectrum disorder [RCV000208741]|Autism spectrum disorders [RCV000208741] | Chr22:49033233..51193680 [GRCh37] Chr22:22q13.32-13.33 |
pathogenic |
Single allele | deletion | Autism spectrum disorder [RCV000208731]|Autism spectrum disorders [RCV000208731] | Chr22:50282986..51304566 [GRCh37] | pathogenic |
GRCh37/hg19 22q13.31-13.33(chr22:46316673-50357320)x1 | copy number loss | See cases [RCV000239941] | Chr22:46316673..50357320 [GRCh37] Chr22:22q13.31-13.33 |
likely pathogenic |
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3 | copy number gain | See cases [RCV000240091] | Chr22:16054691..51237518 [GRCh37] Chr22:22q11.1-13.33 |
pathogenic |
GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3 | copy number gain | See cases [RCV000240469] | Chr22:35728929..51220961 [GRCh37] Chr22:22q12.3-13.33 |
pathogenic |
GRCh37/hg19 22q13.1-13.33(chr22:40425714-51220961)x3 | copy number gain | See cases [RCV000240459] | Chr22:40425714..51220961 [GRCh37] Chr22:22q13.1-13.33 |
pathogenic |
GRCh37/hg19 22q13.32-13.33(chr22:48533991-51178264) | copy number loss | 22q13.3 deletion syndrome [RCV000767671] | Chr22:48533991..51178264 [GRCh37] Chr22:22q13.32-13.33 |
pathogenic |
GRCh37/hg19 22q13.31-13.33(chr22:47247169-51176099)x1 | copy number loss | See cases [RCV000449140] | Chr22:47247169..51176099 [GRCh37] Chr22:22q13.31-13.33 |
pathogenic |
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3 | copy number gain | See cases [RCV000446956] | Chr22:16054691..51220902 [GRCh37] Chr22:22q11.1-13.33 |
pathogenic |
GRCh37/hg19 22q13.31-13.33(chr22:47187586-51237463)x1 | copy number loss | See cases [RCV000446928] | Chr22:47187586..51237463 [GRCh37] Chr22:22q13.31-13.33 |
pathogenic |
GRCh37/hg19 22q13.31-13.33(chr22:46866460-51197838)x1 | copy number loss | See cases [RCV000447857] | Chr22:46866460..51197838 [GRCh37] Chr22:22q13.31-13.33 |
pathogenic |
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3 | copy number gain | See cases [RCV000448847] | Chr22:16054691..51237463 [GRCh37] Chr22:22q11.1-13.33 |
pathogenic |
GRCh37/hg19 22q13.2-13.33(chr22:43381459-51197838)x1 | copy number loss | See cases [RCV000512121] | Chr22:43381459..51197838 [GRCh37] Chr22:22q13.2-13.33 |
pathogenic |
GRCh37/hg19 22q13.33(chr22:49628164-51197838)x1 | copy number loss | See cases [RCV000510342] | Chr22:49628164..51197838 [GRCh37] Chr22:22q13.33 |
pathogenic |
GRCh37/hg19 22q13.31-13.33(chr22:46543160-51197838)x1 | copy number loss | See cases [RCV000510351] | Chr22:46543160..51197838 [GRCh37] Chr22:22q13.31-13.33 |
pathogenic |
GRCh37/hg19 22q13.32-13.33(chr22:48556939-51197838)x1 | copy number loss | See cases [RCV000511340] | Chr22:48556939..51197838 [GRCh37] Chr22:22q13.32-13.33 |
pathogenic |
GRCh37/hg19 22q13.32-13.33(chr22:49305443-51197838)x1 | copy number loss | See cases [RCV000511993] | Chr22:49305443..51197838 [GRCh37] Chr22:22q13.32-13.33 |
pathogenic |
GRCh37/hg19 22q13.31-13.33(chr22:45261208-51197838)x1 | copy number loss | See cases [RCV000511220] | Chr22:45261208..51197838 [GRCh37] Chr22:22q13.31-13.33 |
pathogenic |
GRCh37/hg19 22q13.2-13.33(chr22:43050743-51197838)x1 | copy number loss | See cases [RCV000511256] | Chr22:43050743..51197838 [GRCh37] Chr22:22q13.2-13.33 |
pathogenic |
GRCh37/hg19 22q13.2-13.33(chr22:42441918-51197838)x1 | copy number loss | See cases [RCV000510765] | Chr22:42441918..51197838 [GRCh37] Chr22:22q13.2-13.33 |
pathogenic |
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838) | copy number gain | See cases [RCV000510873] | Chr22:16888900..51197838 [GRCh37] Chr22:22q11.1-13.33 |
pathogenic |
GRCh37/hg19 22q13.2-13.33(chr22:43875989-51197838)x1 | copy number loss | See cases [RCV000511015] | Chr22:43875989..51197838 [GRCh37] Chr22:22q13.2-13.33 |
pathogenic |
GRCh37/hg19 22q13.33(chr22:50145416-51197838)x1 | copy number loss | See cases [RCV000512145] | Chr22:50145416..51197838 [GRCh37] Chr22:22q13.33 |
pathogenic |
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3 | copy number gain | See cases [RCV000512333] | Chr22:16888900..51197838 [GRCh37] Chr22:22q11.1-13.33 |
pathogenic |
GRCh37/hg19 22q13.31-13.33(chr22:46780978-51183840)x1 | copy number loss | not provided [RCV000684522] | Chr22:46780978..51183840 [GRCh37] Chr22:22q13.31-13.33 |
pathogenic |
GRCh37/hg19 22q13.31-13.33(chr22:46768838-51197838)x1 | copy number loss | not provided [RCV000684523] | Chr22:46768838..51197838 [GRCh37] Chr22:22q13.31-13.33 |
pathogenic |
GRCh37/hg19 22q13.31-13.33(chr22:46667744-51183840)x1 | copy number loss | not provided [RCV000684524] | Chr22:46667744..51183840 [GRCh37] Chr22:22q13.31-13.33 |
pathogenic |
GRCh37/hg19 22q13.31-13.33(chr22:45994305-51183840)x1 | copy number loss | not provided [RCV000684525] | Chr22:45994305..51183840 [GRCh37] Chr22:22q13.31-13.33 |
pathogenic |
GRCh37/hg19 22q13.31-13.33(chr22:44789956-51183840)x1 | copy number loss | not provided [RCV000684526] | Chr22:44789956..51183840 [GRCh37] Chr22:22q13.31-13.33 |
pathogenic |
GRCh37/hg19 22q13.2-13.33(chr22:43320284-51183840)x1 | copy number loss | not provided [RCV000684527] | Chr22:43320284..51183840 [GRCh37] Chr22:22q13.2-13.33 |
pathogenic |
GRCh37/hg19 22q13.2-13.33(chr22:43111156-51183840)x1 | copy number loss | not provided [RCV000684528] | Chr22:43111156..51183840 [GRCh37] Chr22:22q13.2-13.33 |
pathogenic |
GRCh37/hg19 22q13.2-13.33(chr22:42955616-51183840)x1 | copy number loss | not provided [RCV000684529] | Chr22:42955616..51183840 [GRCh37] Chr22:22q13.2-13.33 |
pathogenic |
GRCh37/hg19 22q13.33(chr22:50190425-51183767)x1 | copy number loss | not provided [RCV000684487] | Chr22:50190425..51183767 [GRCh37] Chr22:22q13.33 |
pathogenic |
GRCh37/hg19 22q13.33(chr22:50172899-50464915)x3 | copy number gain | not provided [RCV000684468] | Chr22:50172899..50464915 [GRCh37] Chr22:22q13.33 |
uncertain significance |
GRCh37/hg19 22q13.33(chr22:50081517-50610628)x1 | copy number loss | not provided [RCV000684477] | Chr22:50081517..50610628 [GRCh37] Chr22:22q13.33 |
uncertain significance |
GRCh37/hg19 22q13.33(chr22:50134203-51183840)x1 | copy number loss | not provided [RCV000684488] | Chr22:50134203..51183840 [GRCh37] Chr22:22q13.33 |
pathogenic |
GRCh37/hg19 22q11.1-13.33(chr22:16054667-51243435)x3 | copy number gain | not provided [RCV000741689] | Chr22:16054667..51243435 [GRCh37] Chr22:22q11.1-13.33 |
pathogenic |
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51195728)x3 | copy number gain | not provided [RCV000741691] | Chr22:16114244..51195728 [GRCh37] Chr22:22q11.1-13.33 |
pathogenic |
GRCh37/hg19 22q13.2-13.33(chr22:42151555-51195728)x1 | copy number loss | not provided [RCV000741989] | Chr22:42151555..51195728 [GRCh37] Chr22:22q13.2-13.33 |
pathogenic |
GRCh37/hg19 22q13.31-13.33(chr22:47782346-51243435)x1 | copy number loss | not provided [RCV000742061] | Chr22:47782346..51243435 [GRCh37] Chr22:22q13.31-13.33 |
pathogenic |
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51211392)x3 | copy number gain | not provided [RCV000741692] | Chr22:16114244..51211392 [GRCh37] Chr22:22q11.1-13.33 |
pathogenic |
GRCh37/hg19 22q13.31-13.33(chr22:48125251-51211392)x1 | copy number loss | not provided [RCV000742062] | Chr22:48125251..51211392 [GRCh37] Chr22:22q13.31-13.33 |
pathogenic |
GRCh37/hg19 22q13.32-13.33(chr22:49313561-51195728)x1 | copy number loss | not provided [RCV000742071] | Chr22:49313561..51195728 [GRCh37] Chr22:22q13.32-13.33 |
pathogenic |
GRCh37/hg19 22q13.33(chr22:50320943-50472042)x3 | copy number gain | not provided [RCV000742091] | Chr22:50320943..50472042 [GRCh37] Chr22:22q13.33 |
benign |
Single allele | deletion | not provided [RCV000768459] | Chr22:46794432..51139778 [GRCh37] Chr22:22q13.31-13.33 |
likely pathogenic |
GRCh37/hg19 22q13.2-13.33(chr22:42416026-51181759) | copy number loss | 22q13.3 deletion syndrome [RCV000767745] | Chr22:42416026..51181759 [GRCh37] Chr22:22q13.2-13.33 |
pathogenic |
GRCh37/hg19 22q13.33(chr22:50346639-50506543)x3 | copy number gain | not provided [RCV000846212] | Chr22:50346639..50506543 [GRCh37] Chr22:22q13.33 |
uncertain significance |
GRCh37/hg19 22q13.31-13.33(chr22:47740201-51197838)x3 | copy number gain | not provided [RCV000846659] | Chr22:47740201..51197838 [GRCh37] Chr22:22q13.31-13.33 |
pathogenic |
GRCh37/hg19 22q13.31-13.33(chr22:46432744-51197838)x3 | copy number gain | not provided [RCV000849204] | Chr22:46432744..51197838 [GRCh37] Chr22:22q13.31-13.33 |
pathogenic |
GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3 | copy number gain | not provided [RCV000846344] | Chr22:16888899..51197838 [GRCh37] Chr22:22q11.1-13.33 |
pathogenic |
Database | Acc Id | Source(s) |
AGR Gene | HGNC:19310 | AgrOrtholog |
COSMIC | PIM3 | COSMIC |
Ensembl Genes | ENSG00000198355 | ENTREZGENE, UniProtKB/Swiss-Prot |
Ensembl Protein | ENSP00000353824 | ENTREZGENE, UniProtKB/Swiss-Prot |
Ensembl Transcript | ENST00000360612 | ENTREZGENE, UniProtKB/Swiss-Prot |
GTEx | ENSG00000198355 | GTEx |
HGNC ID | HGNC:19310 | ENTREZGENE |
Human Proteome Map | PIM3 | Human Proteome Map |
InterPro | Kinase-like_dom_sf | UniProtKB/Swiss-Prot |
PIM1/2/3 | UniProtKB/Swiss-Prot | |
Prot_kinase_dom | UniProtKB/Swiss-Prot | |
Protein_kinase_ATP_BS | UniProtKB/Swiss-Prot | |
Ser/Thr_kinase_AS | UniProtKB/Swiss-Prot | |
KEGG Report | hsa:415116 | UniProtKB/Swiss-Prot |
NCBI Gene | 415116 | ENTREZGENE |
OMIM | 610580 | OMIM |
Pfam | Pkinase | UniProtKB/Swiss-Prot |
PharmGKB | PA134980758 | PharmGKB |
PIRSF | STPK_Pim-1 | UniProtKB/Swiss-Prot |
PROSITE | PROTEIN_KINASE_ATP | UniProtKB/Swiss-Prot |
PROTEIN_KINASE_DOM | UniProtKB/Swiss-Prot | |
PROTEIN_KINASE_ST | UniProtKB/Swiss-Prot | |
SMART | S_TKc | UniProtKB/Swiss-Prot |
Superfamily-SCOP | SSF56112 | UniProtKB/Swiss-Prot |
UniGene | Hs.530381 | ENTREZGENE |
UniProt | PIM3_HUMAN | UniProtKB/Swiss-Prot |
Q6P2J9_HUMAN | UniProtKB/TrEMBL | |
Q86V86 | ENTREZGENE | |
UniProt Secondary | A5D8X8 | UniProtKB/Swiss-Prot |
A8K7J0 | UniProtKB/Swiss-Prot | |
B1B0P0 | UniProtKB/Swiss-Prot | |
Q68BM2 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2014-07-01 | PIM3 | Pim-3 proto-oncogene, serine/threonine kinase | pim-3 oncogene | Symbol and/or name change | 5135510 | APPROVED |
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More on PIM3 | |
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Alliance Gene |
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NCBI Gene |
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Ensembl Gene |
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JBrowse: hg19 hg38 |
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HGNC Report |
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NCBI Genome Data Viewer |
CRRD Object Information | |
CRRD ID: | 1344275 |
Created: | 2005-03-08 |
Species: | Homo sapiens |
Last Modified: | 2019-11-26 |
Status: | ACTIVE |
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.