Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | amyotrophic lateral sclerosis | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:23624525 | |
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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | amyotrophic lateral sclerosis | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:23624525 | |
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# | Reference Title | Reference Citation |
1. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
2. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:10645953 | PMID:12477932 | PMID:12637513 | PMID:14702039 | PMID:15489334 | PMID:16710414 | PMID:19913121 | PMID:20628086 | PMID:20729199 | PMID:21461837 | PMID:21873635 | PMID:21935397 |
PMID:21988832 | PMID:22623531 | PMID:22939624 | PMID:23624525 | PMID:25677198 | PMID:26186194 | PMID:28319085 | PMID:28514442 | PMID:32296183 | PMID:32707033 | PMID:32814053 | PMID:33961781 |
PMID:34857952 |
CAMK1G (Homo sapiens - human) |
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Camk1g (Mus musculus - house mouse) |
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Camk1g (Rattus norvegicus - Norway rat) |
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Camk1g (Chinchilla lanigera - long-tailed chinchilla) |
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CAMK1G (Pan paniscus - bonobo/pygmy chimpanzee) |
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CAMK1G (Canis lupus familiaris - dog) |
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Camk1g (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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CAMK1G (Sus scrofa - pig) |
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CAMK1G (Chlorocebus sabaeus - green monkey) |
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Camk1g (Heterocephalus glaber - naked mole-rat) |
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Variants in CAMK1G
26 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3 | copy number gain | See cases [RCV000051857] | Chr1:187143981..224299417 [GRCh38] Chr1:187113113..224487119 [GRCh37] Chr1:185379736..222553742 [NCBI36] Chr1:1q31.1-42.11 |
pathogenic |
GRCh38/hg38 1q32.1-32.2(chr1:204990129-210220258)x3 | copy number gain | See cases [RCV000051859] | Chr1:204990129..210220258 [GRCh38] Chr1:204959257..210572305 [GRCh37] Chr1:203225880..208638928 [NCBI36] Chr1:1q32.1-32.2 |
pathogenic |
NM_020439.2(CAMK1G):c.516G>A (p.Gln172=) | single nucleotide variant | Malignant melanoma [RCV000064502] | Chr1:209606400 [GRCh38] Chr1:209779745 [GRCh37] Chr1:207846368 [NCBI36] Chr1:1q32.2 |
not provided |
GRCh38/hg38 1q32.2-32.3(chr1:208063461-211907812)x1 | copy number loss | See cases [RCV000138122] | Chr1:208063461..211907812 [GRCh38] Chr1:208236806..212081154 [GRCh37] Chr1:206303429..210147777 [NCBI36] Chr1:1q32.2-32.3 |
likely benign |
GRCh38/hg38 1q32.2(chr1:207583527-210159181)x1 | copy number loss | See cases [RCV000139025] | Chr1:207583527..210159181 [GRCh38] Chr1:207756872..210332526 [GRCh37] Chr1:205823495..208399149 [NCBI36] Chr1:1q32.2 |
pathogenic |
GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3 | copy number gain | See cases [RCV000142054] | Chr1:204764914..225408698 [GRCh38] Chr1:204734042..225596400 [GRCh37] Chr1:203000665..223663023 [NCBI36] Chr1:1q32.1-42.12 |
pathogenic |
GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3 | copy number gain | See cases [RCV000143727] | Chr1:207346642..248930485 [GRCh38] Chr1:207519987..249224684 [GRCh37] Chr1:205586610..247191307 [NCBI36] Chr1:1q32.2-44 |
pathogenic |
GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3 | copy number gain | See cases [RCV000240137] | Chr1:197811907..228997888 [GRCh37] Chr1:1q31.3-42.13 |
pathogenic |
GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3 | copy number gain | See cases [RCV000449172] | Chr1:195483439..249213000 [GRCh37] Chr1:1q31.3-44 |
pathogenic |
GRCh37/hg19 1q32.2(chr1:209742722-210774573)x1 | copy number loss | See cases [RCV000446748] | Chr1:209742722..210774573 [GRCh37] Chr1:1q32.2 |
pathogenic |
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 | copy number gain | See cases [RCV000510383] | Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) | copy number gain | See cases [RCV000510926] | Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
GRCh37/hg19 1q32.1-32.3(chr1:204682513-212815646) | copy number loss | Global developmental delay [RCV000626524] | Chr1:204682513..212815646 [GRCh37] Chr1:1q32.1-32.3 |
pathogenic |
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 | copy number gain | not provided [RCV000736295] | Chr1:47851..249228449 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 | copy number gain | not provided [RCV000736305] | Chr1:82154..249218992 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
GRCh37/hg19 1q25.3-41(chr1:185644663-221698833)x3 | copy number gain | not provided [RCV000749265] | Chr1:185644663..221698833 [GRCh37] Chr1:1q25.3-41 |
pathogenic |
GRCh37/hg19 1q32.1-32.3(chr1:206329070-213263817)x3 | copy number gain | not provided [RCV000848713] | Chr1:206329070..213263817 [GRCh37] Chr1:1q32.1-32.3 |
uncertain significance |
GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3 | copy number gain | not provided [RCV000845852] | Chr1:182388773..249111240 [GRCh37] Chr1:1q25.3-44 |
pathogenic |
NM_020439.3(CAMK1G):c.1397G>A (p.Arg466Gln) | single nucleotide variant | Inborn genetic diseases [RCV003274994] | Chr1:209612841 [GRCh38] Chr1:209786186 [GRCh37] Chr1:1q32.2 |
uncertain significance |
GRCh37/hg19 1q31.3-32.2(chr1:194356425-210988710)x3 | copy number gain | not provided [RCV001249273] | Chr1:194356425..210988710 [GRCh37] Chr1:1q31.3-32.2 |
not provided |
GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3 | copy number gain | See cases [RCV001007407] | Chr1:204045948..249218992 [GRCh37] Chr1:1q32.1-44 |
pathogenic |
GRCh37/hg19 1q32.2(chr1:208703835-210154164)x3 | copy number gain | not provided [RCV001259105] | Chr1:208703835..210154164 [GRCh37] Chr1:1q32.2 |
uncertain significance |
NC_000001.10:g.(?_130980840)_(248900000_?)dup | duplication | Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] | Chr1:130980840..248900000 [GRCh37] Chr1:1q12-44 |
uncertain significance |
GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3 | copy number gain | See cases [RCV002287837] | Chr1:197867914..249224684 [GRCh37] Chr1:1q31.3-44 |
pathogenic |
NM_020439.3(CAMK1G):c.323G>A (p.Arg108Gln) | single nucleotide variant | Inborn genetic diseases [RCV002749795] | Chr1:209605562 [GRCh38] Chr1:209778907 [GRCh37] Chr1:1q32.2 |
uncertain significance |
GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3 | copy number gain | not provided [RCV002475637] | Chr1:181453460..213107248 [GRCh37] Chr1:1q25.3-32.3 |
pathogenic |
NM_020439.3(CAMK1G):c.1136G>A (p.Arg379His) | single nucleotide variant | Inborn genetic diseases [RCV002989777] | Chr1:209612012 [GRCh38] Chr1:209785357 [GRCh37] Chr1:1q32.2 |
uncertain significance |
NM_020439.3(CAMK1G):c.891G>T (p.Lys297Asn) | single nucleotide variant | Inborn genetic diseases [RCV002969984] | Chr1:209611528 [GRCh38] Chr1:209784873 [GRCh37] Chr1:1q32.2 |
uncertain significance |
GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2 | copy number loss | Orofacial cleft 2 [RCV002481175] | Chr1:228006998..228061271 [GRCh38] Chr1:1q32.2-42.13 |
association |
NM_020439.3(CAMK1G):c.181C>T (p.Arg61Trp) | single nucleotide variant | Inborn genetic diseases [RCV003000812] | Chr1:209600071 [GRCh38] Chr1:209773416 [GRCh37] Chr1:1q32.2 |
uncertain significance |
NM_020439.3(CAMK1G):c.1112C>A (p.Thr371Asn) | single nucleotide variant | Inborn genetic diseases [RCV002887836] | Chr1:209611988 [GRCh38] Chr1:209785333 [GRCh37] Chr1:1q32.2 |
uncertain significance |
NM_020439.3(CAMK1G):c.1396C>T (p.Arg466Trp) | single nucleotide variant | Inborn genetic diseases [RCV002826467] | Chr1:209612840 [GRCh38] Chr1:209786185 [GRCh37] Chr1:1q32.2 |
uncertain significance |
NM_020439.3(CAMK1G):c.1400C>T (p.Ala467Val) | single nucleotide variant | Inborn genetic diseases [RCV002931586] | Chr1:209612844 [GRCh38] Chr1:209786189 [GRCh37] Chr1:1q32.2 |
uncertain significance |
NM_020439.3(CAMK1G):c.335G>T (p.Arg112Leu) | single nucleotide variant | Inborn genetic diseases [RCV002713024] | Chr1:209605574 [GRCh38] Chr1:209778919 [GRCh37] Chr1:1q32.2 |
uncertain significance |
NM_020439.3(CAMK1G):c.335G>A (p.Arg112Gln) | single nucleotide variant | Inborn genetic diseases [RCV002666348] | Chr1:209605574 [GRCh38] Chr1:209778919 [GRCh37] Chr1:1q32.2 |
uncertain significance |
NM_020439.3(CAMK1G):c.965T>A (p.Met322Lys) | single nucleotide variant | Inborn genetic diseases [RCV002836271] | Chr1:209611841 [GRCh38] Chr1:209785186 [GRCh37] Chr1:1q32.2 |
uncertain significance |
NM_020439.3(CAMK1G):c.812C>A (p.Ala271Asp) | single nucleotide variant | Inborn genetic diseases [RCV002941029] | Chr1:209609914 [GRCh38] Chr1:209783259 [GRCh37] Chr1:1q32.2 |
uncertain significance |
NM_020439.3(CAMK1G):c.142C>T (p.Leu48Phe) | single nucleotide variant | Inborn genetic diseases [RCV002668571] | Chr1:209600032 [GRCh38] Chr1:209773377 [GRCh37] Chr1:1q32.2 |
uncertain significance |
NM_020439.3(CAMK1G):c.790G>A (p.Glu264Lys) | single nucleotide variant | Inborn genetic diseases [RCV002965594] | Chr1:209609892 [GRCh38] Chr1:209783237 [GRCh37] Chr1:1q32.2 |
uncertain significance |
NM_020439.3(CAMK1G):c.811G>A (p.Ala271Thr) | single nucleotide variant | Inborn genetic diseases [RCV002921457] | Chr1:209609913 [GRCh38] Chr1:209783258 [GRCh37] Chr1:1q32.2 |
uncertain significance |
NM_020439.3(CAMK1G):c.34T>C (p.Trp12Arg) | single nucleotide variant | Inborn genetic diseases [RCV002678089] | Chr1:209595017 [GRCh38] Chr1:209768362 [GRCh37] Chr1:1q32.2 |
uncertain significance |
NM_020439.3(CAMK1G):c.905G>T (p.Ser302Ile) | single nucleotide variant | Inborn genetic diseases [RCV003209682] | Chr1:209611542 [GRCh38] Chr1:209784887 [GRCh37] Chr1:1q32.2 |
uncertain significance |
NM_020439.3(CAMK1G):c.1291T>C (p.Ser431Pro) | single nucleotide variant | Inborn genetic diseases [RCV003212559] | Chr1:209612167 [GRCh38] Chr1:209785512 [GRCh37] Chr1:1q32.2 |
uncertain significance |
NM_020439.3(CAMK1G):c.953G>A (p.Arg318Lys) | single nucleotide variant | Inborn genetic diseases [RCV003197384] | Chr1:209611829 [GRCh38] Chr1:209785174 [GRCh37] Chr1:1q32.2 |
uncertain significance |
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. |
D1S70 |
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L461 |
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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 | adipose tissue | appendage | entire extraembryonic component | |
High | ||||||||||||||||
Medium | 4 | 26 | 1 | 74 | 1 | 13 | 19 | 1536 | 27 | 233 | 3 | 9 | ||||
Low | 941 | 241 | 630 | 74 | 397 | 72 | 1084 | 392 | 1678 | 272 | 955 | 612 | 7 | 161 | 657 | 1 |
Below cutoff | 1356 | 2082 | 908 | 481 | 838 | 334 | 2954 | 1528 | 459 | 87 | 209 | 795 | 152 | 915 | 1936 | 1 |
RefSeq Acc Id: | ENST00000009105 ⟹ ENSP00000009105 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000361322 ⟹ ENSP00000354861 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000423146 ⟹ ENSP00000392173 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000494990 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000651530 ⟹ ENSP00000498823 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_020439 ⟹ NP_065172 | ||||||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_017001866 ⟹ XP_016857355 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_017001867 ⟹ XP_016857356 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_054337798 ⟹ XP_054193773 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054337799 ⟹ XP_054193774 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NP_065172 ⟸ NM_020439 |
- UniProtKB: | Q86UH5 (UniProtKB/Swiss-Prot), Q9Y3J7 (UniProtKB/Swiss-Prot), Q96NX5 (UniProtKB/Swiss-Prot), B3KTK0 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_016857356 ⟸ XM_017001867 |
- Peptide Label: | isoform X2 |
- UniProtKB: | A0A494C109 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_016857355 ⟸ XM_017001866 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q86UH5 (UniProtKB/Swiss-Prot), Q9Y3J7 (UniProtKB/Swiss-Prot), Q96NX5 (UniProtKB/Swiss-Prot), B3KTK0 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSP00000392173 ⟸ ENST00000423146 |
RefSeq Acc Id: | ENSP00000354861 ⟸ ENST00000361322 |
RefSeq Acc Id: | ENSP00000009105 ⟸ ENST00000009105 |
RefSeq Acc Id: | ENSP00000498823 ⟸ ENST00000651530 |
RefSeq Acc Id: | XP_054193773 ⟸ XM_054337798 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q96NX5 (UniProtKB/Swiss-Prot), Q86UH5 (UniProtKB/Swiss-Prot), Q9Y3J7 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | XP_054193774 ⟸ XM_054337799 |
- Peptide Label: | isoform X2 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q96NX5-F1-model_v2 | AlphaFold | Q96NX5 | 1-476 | view protein structure |
RGD ID: | 6784835 | ||||||||
Promoter ID: | HG_KWN:7160 | ||||||||
Type: | Non-CpG | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | Lymphoblastoid | ||||||||
Transcripts: | OTTHUMT00000088529 | ||||||||
Position: |
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RGD ID: | 6858852 | ||||||||
Promoter ID: | EPDNEW_H2591 | ||||||||
Type: | multiple initiation site | ||||||||
Name: | CAMK1G_1 | ||||||||
Description: | calcium/calmodulin dependent protein kinase IG | ||||||||
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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Database | Acc Id | Source(s) |
AGR Gene | HGNC:14585 | AgrOrtholog |
COSMIC | CAMK1G | COSMIC |
Ensembl Genes | ENSG00000008118 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENST00000009105 | ENTREZGENE |
ENST00000009105.5 | UniProtKB/Swiss-Prot | |
ENST00000361322 | ENTREZGENE | |
ENST00000361322.3 | UniProtKB/Swiss-Prot | |
ENST00000423146.5 | UniProtKB/TrEMBL | |
ENST00000651530 | ENTREZGENE | |
ENST00000651530.1 | UniProtKB/TrEMBL | |
Gene3D-CATH | Transferase(Phosphotransferase) domain 1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
GTEx | ENSG00000008118 | GTEx |
HGNC ID | HGNC:14585 | ENTREZGENE |
Human Proteome Map | CAMK1G | Human Proteome Map |
InterPro | Kinase-like_dom_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Prot_kinase_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Protein_kinase_ATP_BS | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Ser/Thr_kinase_AS | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | hsa:57172 | UniProtKB/Swiss-Prot |
NCBI Gene | 57172 | ENTREZGENE |
OMIM | 614994 | OMIM |
PANTHER | CALCIUM/CALMODULIN-DEPENDENT PROTEIN KINASE TYPE 1G | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
SERINE/THREONINE-PROTEIN KINASE | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | Pkinase | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PharmGKB | PA26049 | PharmGKB |
PROSITE | PROTEIN_KINASE_ATP | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PROTEIN_KINASE_DOM | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PROTEIN_KINASE_ST | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SMART | S_TKc | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Superfamily-SCOP | SSF56112 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
UniProt | A0A494C109 | ENTREZGENE, UniProtKB/TrEMBL |
B3KTK0 | ENTREZGENE, UniProtKB/TrEMBL | |
C9IYV2_HUMAN | UniProtKB/TrEMBL | |
KCC1G_HUMAN | UniProtKB/Swiss-Prot | |
Q86UH5 | ENTREZGENE | |
Q96NX5 | ENTREZGENE | |
Q9Y3J7 | ENTREZGENE | |
UniProt Secondary | Q86UH5 | UniProtKB/Swiss-Prot |
Q9Y3J7 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2016-02-10 | CAMK1G | calcium/calmodulin dependent protein kinase IG | CAMK1G | calcium/calmodulin-dependent protein kinase IG | Symbol and/or name change | 5135510 | APPROVED |