Imported Disease Annotations - CTDObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | MAPK8IP1 | Human | type 2 diabetes mellitus | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | | |
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Imported Disease Annotations - CTDObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | MAPK8IP1 | Human | type 2 diabetes mellitus | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | | |
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# | Reference Title | Reference Citation |
1. | IB1, a JIP-1-related nuclear protein present in insulin-secreting cells. | Bonny C, etal., J Biol Chem 1998 Jan 23;273(4):1843-6. |
2. | GOAs Human GO annotations | GOA_HUMAN data from the GO Consortium |
3. | Activated mitogen-activated protein kinase kinase 7 redistributes to the cytosol and binds to Jun N-terminal kinase-interacting protein 1 involving oxidative stress during early reperfusion in rat hippocampal CA1 region. | Li CH, etal., J Neurochem. 2005 Apr;93(2):290-8. |
4. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
5. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
6. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
7. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
8. | Regulatory mechanisms of mitogen-activated kinase signaling. | Zhang Y and Dong C, Cell Mol Life Sci. 2007 Nov;64(21):2771-89. |
PMID:8619474 | PMID:9110174 | PMID:9235893 | PMID:9733513 | PMID:9933567 | PMID:10490659 | PMID:10574993 | PMID:10629060 | PMID:10700186 | PMID:10748095 | PMID:10827173 | PMID:10827199 |
PMID:11147798 | PMID:11238452 | PMID:11517249 | PMID:11585908 | PMID:11700324 | PMID:11724784 | PMID:11726277 | PMID:11790792 | PMID:11907332 | PMID:11912189 | PMID:12024021 | PMID:12064607 |
PMID:12194869 | PMID:12477932 | PMID:12508107 | PMID:12524447 | PMID:12563035 | PMID:12665528 | PMID:12740599 | PMID:12756254 | PMID:12783873 | PMID:12893827 | PMID:12917434 | PMID:12937412 |
PMID:14507925 | PMID:15138488 | PMID:15868948 | PMID:15894166 | PMID:15911620 | PMID:15998799 | PMID:16169070 | PMID:16273093 | PMID:16301330 | PMID:16343492 | PMID:16456539 | PMID:16533805 |
PMID:16840345 | PMID:17200414 | PMID:17709393 | PMID:17719230 | PMID:18055217 | PMID:18286207 | PMID:18480379 | PMID:18626009 | PMID:19491104 | PMID:19616077 | PMID:20173330 | PMID:20205790 |
PMID:20301750 | PMID:21237154 | PMID:21873635 | PMID:23172226 | PMID:23360921 | PMID:23770673 | PMID:23825109 | PMID:24144296 | PMID:24478353 | PMID:27891669 | PMID:28319085 | PMID:28514442 |
PMID:30026235 | PMID:31413325 | PMID:31980649 | PMID:32427938 | PMID:33848645 | PMID:33961781 | PMID:34014261 | PMID:35092815 | PMID:35914814 | PMID:36902422 | PMID:39013462 |
MAPK8IP1 (Homo sapiens - human) |
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Mapk8ip1 (Mus musculus - house mouse) |
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Mapk8ip1 (Rattus norvegicus - Norway rat) |
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Mapk8ip1 (Chinchilla lanigera - long-tailed chinchilla) |
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MAPK8IP1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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MAPK8IP1 (Canis lupus familiaris - dog) |
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Mapk8ip1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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MAPK8IP1 (Sus scrofa - pig) |
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MAPK8IP1 (Chlorocebus sabaeus - green monkey) |
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Mapk8ip1 (Heterocephalus glaber - naked mole-rat) |
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Variants in MAPK8IP1
57 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
NM_005456.4(MAPK8IP1):c.176G>A (p.Ser59Asn) | single nucleotide variant | Diabetes mellitus type 2, susceptibility to [RCV000005752] | Chr11:45898159 [GRCh38] Chr11:45919710 [GRCh37] Chr11:11p11.2 |
pathogenic|risk factor |
Single allele | deletion | Intellectual disability [RCV001293382] | Chr11:118359328..118372573 [GRCh37] Chr11:11p15.3-q23.3 |
pathogenic |
GRCh38/hg38 11p13-11.2(chr11:35663578-46959820)x1 | copy number loss | See cases [RCV000052679] | Chr11:35663578..46959820 [GRCh38] Chr11:35685126..46981371 [GRCh37] Chr11:35641702..46937947 [NCBI36] Chr11:11p13-11.2 |
pathogenic |
GRCh38/hg38 11p12-11.2(chr11:36508280-48643003)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052680]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052680]|See cases [RCV000052680] | Chr11:36508280..48643003 [GRCh38] Chr11:36529830..48664555 [GRCh37] Chr11:36486406..48621131 [NCBI36] Chr11:11p12-11.2 |
pathogenic |
GRCh38/hg38 11p11.2(chr11:44136593-46121139)x1 | copy number loss | See cases [RCV000052681] | Chr11:44136593..46121139 [GRCh38] Chr11:44158143..46142690 [GRCh37] Chr11:44114719..46099266 [NCBI36] Chr11:11p11.2 |
pathogenic |
NM_005456.3(MAPK8IP1):c.1395G>T (p.Met465Ile) | single nucleotide variant | Malignant melanoma [RCV000062218] | Chr11:45903162 [GRCh38] Chr11:45924713 [GRCh37] Chr11:45881289 [NCBI36] Chr11:11p11.2 |
not provided |
GRCh38/hg38 11p12-11.2(chr11:41118322-48643003)x1 | copy number loss | See cases [RCV000135405] | Chr11:41118322..48643003 [GRCh38] Chr11:41139872..48664555 [GRCh37] Chr11:41096448..48621131 [NCBI36] Chr11:11p12-11.2 |
pathogenic |
GRCh38/hg38 11p12-11.12(chr11:39179252-49135735)x1 | copy number loss | See cases [RCV000137391] | Chr11:39179252..49135735 [GRCh38] Chr11:39200802..49157287 [GRCh37] Chr11:39157378..49113863 [NCBI36] Chr11:11p12-11.12 |
pathogenic |
GRCh38/hg38 11p12-11.12(chr11:42727555-49135735)x3 | copy number gain | See cases [RCV000139422] | Chr11:42727555..49135735 [GRCh38] Chr11:42749105..49157287 [GRCh37] Chr11:42705681..49113863 [NCBI36] Chr11:11p12-11.12 |
likely pathogenic |
GRCh38/hg38 11p12-11.2(chr11:42553659-46114792)x1 | copy number loss | See cases [RCV000142289] | Chr11:42553659..46114792 [GRCh38] Chr11:42575209..46136343 [GRCh37] Chr11:42531785..46092919 [NCBI36] Chr11:11p12-11.2 |
pathogenic |
GRCh37/hg19 11p12-11.2(chr11:42475897-48372559)x1 | copy number loss | See cases [RCV000446383] | Chr11:42475897..48372559 [GRCh37] Chr11:11p12-11.2 |
pathogenic |
GRCh37/hg19 11p11.2(chr11:45873733-46409298)x1 | copy number loss | See cases [RCV000446153] | Chr11:45873733..46409298 [GRCh37] Chr11:11p11.2 |
likely pathogenic |
GRCh37/hg19 11p14.2-11.12(chr11:26574629-50508019)x3 | copy number gain | See cases [RCV000448603] | Chr11:26574629..50508019 [GRCh37] Chr11:11p14.2-11.12 |
pathogenic |
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) | copy number gain | See cases [RCV000511729] | Chr11:230616..134938470 [GRCh37] Chr11:11p15.5-q25 |
pathogenic |
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 | copy number gain | See cases [RCV000510881] | Chr11:230616..134938470 [GRCh37] Chr11:11p15.5-q25 |
pathogenic |
NM_005456.4(MAPK8IP1):c.464C>T (p.Thr155Met) | single nucleotide variant | not specified [RCV004317588] | Chr11:45900394 [GRCh38] Chr11:45921945 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_005456.4(MAPK8IP1):c.224T>C (p.Leu75Pro) | single nucleotide variant | not specified [RCV004288681] | Chr11:45900154 [GRCh38] Chr11:45921705 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_005456.4(MAPK8IP1):c.1909C>T (p.His637Tyr) | single nucleotide variant | not specified [RCV004325418] | Chr11:45904986 [GRCh38] Chr11:45926537 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_005456.4(MAPK8IP1):c.934G>A (p.Asp312Asn) | single nucleotide variant | not specified [RCV004293796] | Chr11:45902701 [GRCh38] Chr11:45924252 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_005456.4(MAPK8IP1):c.781C>T (p.His261Tyr) | single nucleotide variant | not specified [RCV004295496] | Chr11:45902548 [GRCh38] Chr11:45924099 [GRCh37] Chr11:11p11.2 |
uncertain significance |
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 | copy number gain | not provided [RCV000737348] | Chr11:198510..134934063 [GRCh37] Chr11:11p15.5-q25 |
pathogenic |
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 | copy number gain | not provided [RCV000749874] | Chr11:70864..134938470 [GRCh37] Chr11:11p15.5-q25 |
pathogenic |
GRCh37/hg19 11p11.2(chr11:45229091-46342834)x3 | copy number gain | not provided [RCV000750026] | Chr11:45229091..46342834 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_005456.4(MAPK8IP1):c.1058G>A (p.Arg353Gln) | single nucleotide variant | not provided [RCV000906597] | Chr11:45902825 [GRCh38] Chr11:45924376 [GRCh37] Chr11:11p11.2 |
benign |
NM_005456.4(MAPK8IP1):c.1344G>A (p.Thr448=) | single nucleotide variant | not provided [RCV000892471] | Chr11:45903111 [GRCh38] Chr11:45924662 [GRCh37] Chr11:11p11.2 |
benign |
NM_005456.4(MAPK8IP1):c.19G>C (p.Gly7Arg) | single nucleotide variant | not specified [RCV004307279] | Chr11:45885839 [GRCh38] Chr11:45907390 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NC_000011.10:g.(?_45805782)_(45910982_?)dup | duplication | Leukocyte adhesion deficiency type II [RCV001032981] | Chr11:45827333..45932533 [GRCh37] Chr11:11p11.2 |
uncertain significance |
GRCh37/hg19 11p11.2(chr11:44266593-46123796)x4 | copy number gain | not provided [RCV001259092] | Chr11:44266593..46123796 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NC_000011.9:g.(?_45827353)_(47804770_?)dup | duplication | Leukocyte adhesion deficiency type II [RCV001296459] | Chr11:45827353..47804770 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_005456.4(MAPK8IP1):c.715C>T (p.Arg239Cys) | single nucleotide variant | not provided [RCV001355943] | Chr11:45902482 [GRCh38] Chr11:45924033 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_005456.4(MAPK8IP1):c.236GCG[5] (p.Gly82dup) | microsatellite | not provided [RCV001358401] | Chr11:45900164..45900165 [GRCh38] Chr11:45921715..45921716 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NC_000011.9:g.(?_45827353)_(45932533_?)dup | duplication | Peroxisome biogenesis disorder [RCV002025400] | Chr11:45827353..45932533 [GRCh37] Chr11:11p11.2 |
uncertain significance |
GRCh37/hg19 11p12-11.2(chr11:40117145-46920718)x1 | copy number loss | not provided [RCV001836486] | Chr11:40117145..46920718 [GRCh37] Chr11:11p12-11.2 |
pathogenic |
NC_000011.9:g.(?_45827353)_(46401497_?)del | deletion | Peroxisome biogenesis disorder [RCV001953896] | Chr11:45827353..46401497 [GRCh37] Chr11:11p11.2 |
pathogenic |
NC_000011.9:g.(?_45827353)_(47804770_?)del | deletion | Leukocyte adhesion deficiency type II [RCV003119908] | Chr11:45827353..47804770 [GRCh37] Chr11:11p11.2 |
pathogenic |
GRCh37/hg19 11p11.2-q12.2(chr11:51581311-54891247)x3 | copy number gain | See cases [RCV002286338] | Chr11:51581311..54891247 [GRCh37] Chr11:11p11.2-q12.2 |
pathogenic |
GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3 | copy number gain | MISSED ABORTION [RCV002282973] | Chr11:32799481..134938470 [GRCh37] Chr11:11p13-q25 |
pathogenic |
NM_005456.4(MAPK8IP1):c.1237T>C (p.Tyr413His) | single nucleotide variant | not specified [RCV004316901] | Chr11:45903004 [GRCh38] Chr11:45924555 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_005456.4(MAPK8IP1):c.52G>C (p.Ala18Pro) | single nucleotide variant | not specified [RCV004321089] | Chr11:45885872 [GRCh38] Chr11:45907423 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_005456.4(MAPK8IP1):c.32G>C (p.Gly11Ala) | single nucleotide variant | not specified [RCV004086743] | Chr11:45885852 [GRCh38] Chr11:45907403 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_005456.4(MAPK8IP1):c.659A>C (p.Gln220Pro) | single nucleotide variant | not specified [RCV004212889] | Chr11:45902426 [GRCh38] Chr11:45923977 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_005456.4(MAPK8IP1):c.1360G>A (p.Val454Ile) | single nucleotide variant | not specified [RCV004239204] | Chr11:45903127 [GRCh38] Chr11:45924678 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_005456.4(MAPK8IP1):c.209C>T (p.Pro70Leu) | single nucleotide variant | not specified [RCV004146283] | Chr11:45900139 [GRCh38] Chr11:45921690 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_005456.4(MAPK8IP1):c.227T>C (p.Leu76Pro) | single nucleotide variant | not specified [RCV004190970] | Chr11:45900157 [GRCh38] Chr11:45921708 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_005456.4(MAPK8IP1):c.330G>C (p.Glu110Asp) | single nucleotide variant | not specified [RCV004239488] | Chr11:45900260 [GRCh38] Chr11:45921811 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_005456.4(MAPK8IP1):c.1090C>T (p.Arg364Trp) | single nucleotide variant | not specified [RCV004082497] | Chr11:45902857 [GRCh38] Chr11:45924408 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_005456.4(MAPK8IP1):c.82G>C (p.Ala28Pro) | single nucleotide variant | not specified [RCV004160540] | Chr11:45885902 [GRCh38] Chr11:45907453 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_005456.4(MAPK8IP1):c.581G>A (p.Arg194Gln) | single nucleotide variant | not specified [RCV004112215] | Chr11:45902038 [GRCh38] Chr11:45923589 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_005456.4(MAPK8IP1):c.673C>T (p.Pro225Ser) | single nucleotide variant | not specified [RCV004153039] | Chr11:45902440 [GRCh38] Chr11:45923991 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_005456.4(MAPK8IP1):c.556C>T (p.His186Tyr) | single nucleotide variant | not specified [RCV004166104] | Chr11:45902013 [GRCh38] Chr11:45923564 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_005456.4(MAPK8IP1):c.1238A>G (p.Tyr413Cys) | single nucleotide variant | not specified [RCV004172601] | Chr11:45903005 [GRCh38] Chr11:45924556 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_005456.4(MAPK8IP1):c.686G>A (p.Arg229Gln) | single nucleotide variant | not specified [RCV004229409] | Chr11:45902453 [GRCh38] Chr11:45924004 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_005456.4(MAPK8IP1):c.1201G>A (p.Gly401Arg) | single nucleotide variant | not specified [RCV004082985] | Chr11:45902968 [GRCh38] Chr11:45924519 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_005456.4(MAPK8IP1):c.1081C>T (p.Pro361Ser) | single nucleotide variant | not specified [RCV004115908] | Chr11:45902848 [GRCh38] Chr11:45924399 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_005456.4(MAPK8IP1):c.1744G>A (p.Gly582Ser) | single nucleotide variant | not specified [RCV004182954] | Chr11:45904532 [GRCh38] Chr11:45926083 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_005456.4(MAPK8IP1):c.1117G>A (p.Ala373Thr) | single nucleotide variant | not specified [RCV004278932] | Chr11:45902884 [GRCh38] Chr11:45924435 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_005456.4(MAPK8IP1):c.713G>A (p.Arg238His) | single nucleotide variant | not specified [RCV004256245] | Chr11:45902480 [GRCh38] Chr11:45924031 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_005456.4(MAPK8IP1):c.658C>G (p.Gln220Glu) | single nucleotide variant | not specified [RCV004255297] | Chr11:45902425 [GRCh38] Chr11:45923976 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_005456.4(MAPK8IP1):c.1703G>A (p.Arg568Gln) | single nucleotide variant | not specified [RCV004258221] | Chr11:45904491 [GRCh38] Chr11:45926042 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_005456.4(MAPK8IP1):c.1190G>A (p.Arg397Gln) | single nucleotide variant | not specified [RCV004341108] | Chr11:45902957 [GRCh38] Chr11:45924508 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_005456.4(MAPK8IP1):c.1402C>T (p.Arg468Cys) | single nucleotide variant | not specified [RCV004341930] | Chr11:45903169 [GRCh38] Chr11:45924720 [GRCh37] Chr11:11p11.2 |
uncertain significance |
GRCh37/hg19 11p11.2(chr11:45804897-45930554)x3 | copy number gain | not provided [RCV003484839] | Chr11:45804897..45930554 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_005456.4(MAPK8IP1):c.1666+5T>C | single nucleotide variant | Type 2 diabetes mellitus [RCV003448633] | Chr11:45904166 [GRCh38] Chr11:45925717 [GRCh37] Chr11:11p11.2 |
uncertain significance |
GRCh37/hg19 11p11.2(chr11:45810101-45930554)x3 | copy number gain | not specified [RCV003986924] | Chr11:45810101..45930554 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_005456.4(MAPK8IP1):c.375G>T (p.Gly125=) | single nucleotide variant | MAPK8IP1-related disorder [RCV003899733] | Chr11:45900305 [GRCh38] Chr11:45921856 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_005456.4(MAPK8IP1):c.1020G>A (p.Ser340=) | single nucleotide variant | MAPK8IP1-related disorder [RCV003951559] | Chr11:45902787 [GRCh38] Chr11:45924338 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_005456.4(MAPK8IP1):c.1057C>A (p.Arg353=) | single nucleotide variant | MAPK8IP1-related disorder [RCV003961612] | Chr11:45902824 [GRCh38] Chr11:45924375 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_005456.4(MAPK8IP1):c.-5C>T | single nucleotide variant | MAPK8IP1-related disorder [RCV003959561] | Chr11:45885816 [GRCh38] Chr11:45907367 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_005456.4(MAPK8IP1):c.267C>T (p.Ala89=) | single nucleotide variant | MAPK8IP1-related disorder [RCV003893975] | Chr11:45900197 [GRCh38] Chr11:45921748 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_005456.4(MAPK8IP1):c.1019C>T (p.Ser340Leu) | single nucleotide variant | not specified [RCV004408668] | Chr11:45902786 [GRCh38] Chr11:45924337 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_005456.4(MAPK8IP1):c.1064G>C (p.Ser355Thr) | single nucleotide variant | not specified [RCV004408669] | Chr11:45902831 [GRCh38] Chr11:45924382 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_005456.4(MAPK8IP1):c.1262C>T (p.Ser421Leu) | single nucleotide variant | not specified [RCV004408671] | Chr11:45903029 [GRCh38] Chr11:45924580 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_005456.4(MAPK8IP1):c.1636G>A (p.Glu546Lys) | single nucleotide variant | not specified [RCV004408673] | Chr11:45904131 [GRCh38] Chr11:45925682 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_005456.4(MAPK8IP1):c.1702C>T (p.Arg568Trp) | single nucleotide variant | not specified [RCV004408674] | Chr11:45904490 [GRCh38] Chr11:45926041 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_005456.4(MAPK8IP1):c.365C>T (p.Pro122Leu) | single nucleotide variant | not specified [RCV004408675] | Chr11:45900295 [GRCh38] Chr11:45921846 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_005456.4(MAPK8IP1):c.392C>G (p.Ser131Cys) | single nucleotide variant | not specified [RCV004408676] | Chr11:45900322 [GRCh38] Chr11:45921873 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_005456.4(MAPK8IP1):c.476A>G (p.Lys159Arg) | single nucleotide variant | not specified [RCV004408677] | Chr11:45900406 [GRCh38] Chr11:45921957 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_005456.4(MAPK8IP1):c.665G>A (p.Gly222Asp) | single nucleotide variant | not specified [RCV004408679] | Chr11:45902432 [GRCh38] Chr11:45923983 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_005456.4(MAPK8IP1):c.716G>A (p.Arg239His) | single nucleotide variant | not specified [RCV004408680] | Chr11:45902483 [GRCh38] Chr11:45924034 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_005456.4(MAPK8IP1):c.88C>T (p.Pro30Ser) | single nucleotide variant | not specified [RCV004408681] | Chr11:45885908 [GRCh38] Chr11:45907459 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_005456.4(MAPK8IP1):c.926T>C (p.Val309Ala) | single nucleotide variant | not specified [RCV004408682] | Chr11:45902693 [GRCh38] Chr11:45924244 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_005456.4(MAPK8IP1):c.614C>T (p.Thr205Ile) | single nucleotide variant | not specified [RCV004643009] | Chr11:45902381 [GRCh38] Chr11:45923932 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_005456.4(MAPK8IP1):c.785C>T (p.Ser262Leu) | single nucleotide variant | not specified [RCV004643015] | Chr11:45902552 [GRCh38] Chr11:45924103 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_005456.4(MAPK8IP1):c.653C>T (p.Pro218Leu) | single nucleotide variant | not specified [RCV004643011] | Chr11:45902420 [GRCh38] Chr11:45923971 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_005456.4(MAPK8IP1):c.1847G>A (p.Arg616Gln) | single nucleotide variant | not specified [RCV004643014] | Chr11:45904788 [GRCh38] Chr11:45926339 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_005456.4(MAPK8IP1):c.611A>C (p.Gln204Pro) | single nucleotide variant | not specified [RCV004643010] | Chr11:45902378 [GRCh38] Chr11:45923929 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_005456.4(MAPK8IP1):c.206G>A (p.Arg69Gln) | single nucleotide variant | not specified [RCV004636544] | Chr11:45898189 [GRCh38] Chr11:45919740 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_005456.4(MAPK8IP1):c.829G>A (p.Ala277Thr) | single nucleotide variant | not specified [RCV004643012] | Chr11:45902596 [GRCh38] Chr11:45924147 [GRCh37] Chr11:11p11.2 |
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. |
The following QTLs overlap with this region. | Full Report | CSV | TAB | Printer | Gviewer |
RH103702 |
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D11S946E |
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SHGC-144940 |
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RH78669 |
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RH64899 |
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adipose tissue
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alimentary part of gastrointestinal system
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appendage
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circulatory system
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ectoderm
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endocrine system
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endoderm
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entire extraembryonic component
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exocrine system
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hemolymphoid system
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hepatobiliary system
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integumental system
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mesenchyme
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mesoderm
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musculoskeletal system
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nervous system
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renal system
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reproductive system
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respiratory system
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sensory system
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visual system
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1204 | 2432 | 2788 | 2245 | 4969 | 1725 | 2345 | 4 | 622 | 1927 | 464 | 2268 | 7262 | 6433 | 52 | 3734 | 848 | 1733 | 1612 | 172 | 1 |
RefSeq Transcripts | NG_012153 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_005456 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AB209720 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AC068385 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF007134 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF074091 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK293637 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK295942 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC035920 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC068470 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BI548334 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471064 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068267 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DB473314 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
Ensembl Acc Id: | ENST00000241014 ⟹ ENSP00000241014 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000395629 ⟹ ENSP00000378991 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000497090 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_005456 ⟹ NP_005447 | ||||||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_005447 | (Get FASTA) | NCBI Sequence Viewer |
GenBank Protein | AAC19150 | (Get FASTA) | NCBI Sequence Viewer |
AAD20443 | (Get FASTA) | NCBI Sequence Viewer | |
AAH68470 | (Get FASTA) | NCBI Sequence Viewer | |
BAD92957 | (Get FASTA) | NCBI Sequence Viewer | |
BAG58726 | (Get FASTA) | NCBI Sequence Viewer | |
BAH11553 | (Get FASTA) | NCBI Sequence Viewer | |
EAW68027 | (Get FASTA) | NCBI Sequence Viewer | |
EAW68028 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000241014 | ||
ENSP00000241014.2 | |||
ENSP00000378991.2 | |||
GenBank Protein | Q9UQF2 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_005447 ⟸ NM_005456 |
- UniProtKB: | D3DQP4 (UniProtKB/Swiss-Prot), O43407 (UniProtKB/Swiss-Prot), Q9UQF2 (UniProtKB/Swiss-Prot), Q6NUQ9 (UniProtKB/TrEMBL) |
- Sequence: |
Ensembl Acc Id: | ENSP00000241014 ⟸ ENST00000241014 |
Ensembl Acc Id: | ENSP00000378991 ⟸ ENST00000395629 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q9UQF2-F1-model_v2 | AlphaFold | Q9UQF2 | 1-711 | view protein structure |
RGD ID: | 6789098 | ||||||||
Promoter ID: | HG_KWN:12741 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour | ||||||||
Transcripts: | NM_005456 | ||||||||
Position: |
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RGD ID: | 6789099 | ||||||||
Promoter ID: | HG_KWN:12743 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell, K562 | ||||||||
Transcripts: | OTTHUMT00000259406 | ||||||||
Position: |
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RGD ID: | 7220151 | ||||||||
Promoter ID: | EPDNEW_H15821 | ||||||||
Type: | initiation region | ||||||||
Name: | MAPK8IP1_1 | ||||||||
Description: | mitogen-activated protein kinase 8 interacting protein 1 | ||||||||
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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Database | Acc Id | Source(s) |
AGR Gene | HGNC:6882 | AgrOrtholog |
COSMIC | MAPK8IP1 | COSMIC |
Ensembl Genes | ENSG00000121653 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENST00000241014 | ENTREZGENE |
ENST00000241014.6 | UniProtKB/Swiss-Prot | |
ENST00000395629.2 | UniProtKB/TrEMBL | |
Gene3D-CATH | 2.30.29.30 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
SH3 Domains | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
GTEx | ENSG00000121653 | GTEx |
HGNC ID | HGNC:6882 | ENTREZGENE |
Human Proteome Map | MAPK8IP1 | Human Proteome Map |
InterPro | JIP1_scaffold | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
JIP1_SH3 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PH-like_dom_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PTB/PI_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SH3-like_dom_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SH3_domain | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | hsa:9479 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
NCBI Gene | 9479 | ENTREZGENE |
OMIM | 604641 | OMIM |
PANTHER | C-JUN-AMINO-TERMINAL KINASE-INTERACTING PROTEIN 1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
JNK-INTERACTING PROTEIN 1-LIKE PROTEIN | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | PID | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
SH3_9 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PharmGKB | PA30626 | PharmGKB |
PROSITE | PID | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
SH3 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SMART | PTB | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
SH3 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Superfamily-SCOP | PH domain-like | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
SSF50044 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
UniProt | D3DQP4 | ENTREZGENE |
E9PBB9_HUMAN | UniProtKB/TrEMBL | |
JIP1_HUMAN | UniProtKB/Swiss-Prot | |
O43407 | ENTREZGENE | |
Q6NUQ9 | ENTREZGENE, UniProtKB/TrEMBL | |
Q9UQF2 | ENTREZGENE | |
UniProt Secondary | D3DQP4 | UniProtKB/Swiss-Prot |
O43407 | UniProtKB/Swiss-Prot |