Imported Disease Annotations - CTDObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | IDE | Human | Alzheimer's disease | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:17192785 | |
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Imported Disease Annotations - CTDObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | IDE | Human | Alzheimer's disease | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:17192785 | |
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# | Reference Title | Reference Citation |
1. | Treadmill Running and Rutin Reverse High Fat Diet Induced Cognitive Impairment in Diet Induced Obese Mice. | Cheng J, etal., J Nutr Health Aging. 2016;20(5):503-8. doi: 10.1007/s12603-015-0616-7. |
2. | Change in INSR, APBA2 and IDE Gene Expressions in Brains of Alzheimer's Disease Patients. | da Costa IB, etal., Curr Alzheimer Res. 2017;14(7):760-765. doi: 10.2174/1567205014666170203100734. |
3. | Insulin-degrading enzyme identified as a candidate diabetes susceptibility gene in GK rats. | Fakhrai-Rad H, etal., Hum Mol Genet 2000 Sep 1;9(14):2149-58. |
4. | Insulin-degrading enzyme regulates the levels of insulin, amyloid beta-protein, and the beta-amyloid precursor protein intracellular domain in vivo. | Farris W, etal., Proc Natl Acad Sci U S A 2003 Apr 1;100(7):4162-7. Epub 2003 Mar 12. |
5. | High-density haplotype structure and association testing of the insulin-degrading enzyme (IDE) gene with type 2 diabetes in 4,206 people. | Florez JC, etal., Diabetes. 2006 Jan;55(1):128-35. |
6. | Berberine Reduces Neurotoxicity Related to Nonalcoholic Steatohepatitis in Rats. | Ghareeb DA, etal., Evid Based Complement Alternat Med. 2015;2015:361847. doi: 10.1155/2015/361847. Epub 2015 Oct 20. |
7. | GOAs Human GO annotations | GOA_HUMAN data from the GO Consortium |
8. | Polymorphisms in the insulin-degrading enzyme gene are associated with type 2 diabetes in men from the NHLBI Framingham Heart Study. | Karamohamed S, etal., Diabetes. 2003 Jun;52(6):1562-7. |
9. | Insulin deprivation decreases insulin degrading enzyme levels in primary cultured cortical neurons and in the cerebral cortex of rats with streptozotocin-induced diabetes. | Kazkayasi I, etal., Pharmacol Rep. 2018 Aug;70(4):677-683. doi: 10.1016/j.pharep.2018.01.008. Epub 2018 Feb 1. |
10. | Treadmill Exercise Ameliorates Spatial Learning and Memory Deficits Through Improving the Clearance of Peripheral and Central Amyloid-Beta Levels. | Khodadadi D, etal., Neurochem Res. 2018 Aug;43(8):1561-1574. doi: 10.1007/s11064-018-2571-2. Epub 2018 Jun 11. |
11. | Effect of growth differentiation factor-15 secreted by human umbilical cord blood-derived mesenchymal stem cells on amyloid beta levels in in vitro and invivo models of Alzheimer's disease. | Kim DH, etal., Biochem Biophys Res Commun. 2018 Sep 14. pii: S0006-291X(18)31922-3. doi: 10.1016/j.bbrc.2018.09.012. |
12. | Genetic associations of type 2 diabetes with islet amyloid polypeptide processing and degrading pathways in asian populations. | Lam VK, etal., PLoS One. 2013 Jun 11;8(6):e62378. doi: 10.1371/journal.pone.0062378. Print 2013. |
13. | Multifunctional Compound AD-35 Improves Cognitive Impairment and Attenuates the Production of TNF-a and IL-1ß in an Aß25-35-induced Rat Model of Alzheimer's Disease. | Li L, etal., J Alzheimers Dis. 2017;56(4):1403-1417. doi: 10.3233/JAD-160587. |
14. | Insulin-degrading enzyme haplotypes affect insulin levels but not dementia risk. | Marlowe L, etal., Neurodegener Dis. 2006;3(6):320-6. |
15. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
16. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
17. | Insulin-degrading enzyme secretion from astrocytes is mediated by an autophagy-based unconventional secretory pathway in Alzheimer disease. | Son SM, etal., Autophagy. 2016 May 3;12(5):784-800. doi: 10.1080/15548627.2016.1159375. Epub 2016 Mar 10. |
18. | Serum Insulin Degrading Enzyme Level and Other Factors in Type 2 Diabetic Patients with Mild Cognitive Impairment. | Sun J, etal., Curr Alzheimer Res. 2016;13(12):1337-1345. |
19. | Neuroprotective mechanism of Kai Xin San: upregulation of hippocampal insulin-degrading enzyme protein expression and acceleration of amyloid-beta degradation. | Wang N, etal., Neural Regen Res. 2017 Apr;12(4):654-659. doi: 10.4103/1673-5374.205107. |
20. | Pioglitazone ameliorates Aß42 deposition in rats with diet-induced insulin resistance associated with AKT/GSK3ß activation. | Yang S, etal., Mol Med Rep. 2017 May;15(5):2588-2594. doi: 10.3892/mmr.2017.6342. Epub 2017 Mar 16. |
PMID:758022 | PMID:1607078 | PMID:1733942 | PMID:1743072 | PMID:2293021 | PMID:3059494 | PMID:6401723 | PMID:7731996 | PMID:8051160 | PMID:8077210 | PMID:8425612 | PMID:9070242 |
PMID:9231799 | PMID:9830016 | PMID:10684867 | PMID:11145591 | PMID:11809755 | PMID:12161276 | PMID:12477932 | PMID:12507914 | PMID:12716770 | PMID:12746301 | PMID:12850277 | PMID:14517947 |
PMID:14702039 | PMID:14744259 | PMID:14755451 | PMID:14764804 | PMID:15024728 | PMID:15088150 | PMID:15181249 | PMID:15277398 | PMID:15277615 | PMID:15285718 | PMID:15489232 | PMID:15590928 |
PMID:15718037 | PMID:15850385 | PMID:15858813 | PMID:15858821 | PMID:15911128 | PMID:16344560 | PMID:16385451 | PMID:16511862 | PMID:16574064 | PMID:16675064 | PMID:16876916 | PMID:16914266 |
PMID:17051221 | PMID:17055432 | PMID:17143514 | PMID:17192785 | PMID:17244626 | PMID:17293876 | PMID:17463249 | PMID:17496198 | PMID:17579348 | PMID:17601350 | PMID:17613531 | PMID:17715127 |
PMID:17804762 | PMID:17827400 | PMID:17913278 | PMID:17953957 | PMID:17964527 | PMID:17971426 | PMID:18212765 | PMID:18226493 | PMID:18411275 | PMID:18426861 | PMID:18448515 | PMID:18591388 |
PMID:18602473 | PMID:18618095 | PMID:18621727 | PMID:18633108 | PMID:18719881 | PMID:18783335 | PMID:18813847 | PMID:18977241 | PMID:18984664 | PMID:18986166 | PMID:18996360 | PMID:19019493 |
PMID:19053027 | PMID:19082521 | PMID:19139842 | PMID:19228808 | PMID:19239107 | PMID:19321446 | PMID:19383491 | PMID:19396426 | PMID:19453261 | PMID:19592050 | PMID:19592620 | PMID:19602701 |
PMID:19606063 | PMID:19622614 | PMID:19741166 | PMID:19785409 | PMID:19794065 | PMID:19808678 | PMID:19808892 | PMID:19809796 | PMID:19862325 | PMID:19864391 | PMID:19864659 | PMID:19889475 |
PMID:19896952 | PMID:19913121 | PMID:19933996 | PMID:19966293 | PMID:20033747 | PMID:20082125 | PMID:20098734 | PMID:20161779 | PMID:20178365 | PMID:20203524 | PMID:20360068 | PMID:20362553 |
PMID:20364150 | PMID:20380468 | PMID:20384434 | PMID:20460429 | PMID:20490451 | PMID:20581827 | PMID:20628086 | PMID:20663017 | PMID:20703447 | PMID:20724036 | PMID:20816152 | PMID:20877624 |
PMID:20880607 | PMID:20927120 | PMID:20959807 | PMID:20971110 | PMID:21098034 | PMID:21185309 | PMID:21232820 | PMID:21343292 | PMID:21731745 | PMID:21800051 | PMID:21873424 | PMID:21873635 |
PMID:21903422 | PMID:21992747 | PMID:22036964 | PMID:22107728 | PMID:22267728 | PMID:22383525 | PMID:22502914 | PMID:22837378 | PMID:22863883 | PMID:23036584 | PMID:23416320 | PMID:23525105 |
PMID:23597493 | PMID:23797320 | PMID:23922390 | PMID:24059301 | PMID:24355596 | PMID:24477584 | PMID:24509480 | PMID:24516642 | PMID:24778252 | PMID:24847884 | PMID:25105907 | PMID:25414272 |
PMID:25544563 | PMID:25921289 | PMID:26186194 | PMID:26186340 | PMID:26344197 | PMID:26389662 | PMID:26496610 | PMID:26816005 | PMID:26968463 | PMID:27432908 | PMID:27499296 | PMID:27806189 |
PMID:27880917 | PMID:27982586 | PMID:28514442 | PMID:28611215 | PMID:28675297 | PMID:29093479 | PMID:29273204 | PMID:29509190 | PMID:29596046 | PMID:29987050 | PMID:30021884 | PMID:30561431 |
PMID:30649986 | PMID:30948266 | PMID:31056398 | PMID:31182584 | PMID:31409639 | PMID:31594818 | PMID:32235678 | PMID:32353859 | PMID:32416252 | PMID:32628020 | PMID:32687490 | PMID:32707033 |
PMID:32807901 | PMID:32814053 | PMID:32857715 | PMID:32877691 | PMID:32963011 | PMID:33060197 | PMID:33631143 | PMID:33637726 | PMID:33865867 | PMID:33961781 | PMID:34349018 | PMID:34732716 |
PMID:34800366 | PMID:35016035 | PMID:35163673 | PMID:35235311 | PMID:35236268 | PMID:35271311 | PMID:35509820 | PMID:35546756 | PMID:35552390 | PMID:35831314 | PMID:35944360 | PMID:36215168 |
PMID:36551314 | PMID:36724073 | PMID:37059927 | PMID:37371470 | PMID:37466059 | PMID:37827155 | PMID:38113892 |
IDE (Homo sapiens - human) |
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Ide (Mus musculus - house mouse) |
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Ide (Rattus norvegicus - Norway rat) |
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Ide (Chinchilla lanigera - long-tailed chinchilla) |
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IDE (Pan paniscus - bonobo/pygmy chimpanzee) |
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IDE (Canis lupus familiaris - dog) |
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Ide (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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IDE (Sus scrofa - pig) |
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IDE (Chlorocebus sabaeus - green monkey) |
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Ide (Heterocephalus glaber - naked mole-rat) |
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Variants in IDE
50 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 10q23.31-26.3(chr10:91048545-133620674)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053560]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053560]|See cases [RCV000053560] | Chr10:91048545..133620674 [GRCh38] Chr10:92808302..135434178 [GRCh37] Chr10:92798282..135284168 [NCBI36] Chr10:10q23.31-26.3 |
pathogenic |
GRCh37/hg19 10q23.31-24.1(chr10:92667881-98970384)x1 | copy number loss | See cases [RCV000447362] | Chr10:92667881..98970384 [GRCh37] Chr10:10q23.31-24.1 |
pathogenic |
GRCh37/hg19 10q23.1-25.1(chr10:85557432-105804295)x1 | copy number loss | Poly (ADP-Ribose) polymerase inhibitor response [RCV000431909] | Chr10:85557432..105804295 [GRCh37] Chr10:10q23.1-25.1 |
pathogenic|drug response |
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 | copy number gain | See cases [RCV000448750] | Chr10:93297..135378918 [GRCh37] Chr10:10p15.3-q26.3 |
pathogenic |
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143) | copy number gain | See cases [RCV000511389] | Chr10:100027..135427143 [GRCh37] Chr10:10p15.3-q26.3 |
pathogenic|uncertain significance |
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3 | copy number gain | See cases [RCV000510861] | Chr10:100027..135427143 [GRCh37] Chr10:10p15.3-q26.3 |
pathogenic |
GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3 | copy number gain | See cases [RCV000510972] | Chr10:93283493..135427143 [GRCh37] Chr10:10q23.32-26.3 |
pathogenic |
GRCh37/hg19 10q23.32-23.33(chr10:93186527-95820286)x1 | copy number loss | See cases [RCV000511278] | Chr10:93186527..95820286 [GRCh37] Chr10:10q23.32-23.33 |
pathogenic |
GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1 | copy number loss | Poly (ADP-Ribose) polymerase inhibitor response [RCV000626438] | Chr10:42347406..135534747 [GRCh37] Chr10:10q11.21-26.3 |
drug response |
NM_004969.4(IDE):c.1904A>G (p.Asn635Ser) | single nucleotide variant | not specified [RCV004323532] | Chr10:92475975 [GRCh38] Chr10:94235732 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_004969.4(IDE):c.1652T>C (p.Ile551Thr) | single nucleotide variant | not specified [RCV004304551] | Chr10:92487200 [GRCh38] Chr10:94246957 [GRCh37] Chr10:10q23.33 |
uncertain significance |
GRCh37/hg19 10q23.32-24.2(chr10:93908171-101809723)x1 | copy number loss | See cases [RCV000512315] | Chr10:93908171..101809723 [GRCh37] Chr10:10q23.32-24.2 |
pathogenic |
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3 | copy number gain | not provided [RCV000749464] | Chr10:73232..135524321 [GRCh37] Chr10:10p15.3-q26.3 |
pathogenic |
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 | copy number gain | not provided [RCV000749465] | Chr10:98087..135477883 [GRCh37] Chr10:10p15.3-q26.3 |
pathogenic |
NM_004969.4(IDE):c.30C>T (p.His10=) | single nucleotide variant | not provided [RCV000970406] | Chr10:92573990 [GRCh38] Chr10:94333747 [GRCh37] Chr10:10q23.33 |
benign|likely benign |
NM_004969.4(IDE):c.723A>G (p.Leu241=) | single nucleotide variant | not provided [RCV000929121] | Chr10:92514981 [GRCh38] Chr10:94274738 [GRCh37] Chr10:10q23.33 |
likely benign |
NM_004969.4(IDE):c.2523T>C (p.Asn841=) | single nucleotide variant | not provided [RCV000953283] | Chr10:92463969 [GRCh38] Chr10:94223726 [GRCh37] Chr10:10q23.33 |
benign |
NM_004969.4(IDE):c.2373C>A (p.Ile791=) | single nucleotide variant | not provided [RCV000910501] | Chr10:92465791 [GRCh38] Chr10:94225548 [GRCh37] Chr10:10q23.33 |
benign |
NM_004969.4(IDE):c.70C>T (p.Arg24Cys) | single nucleotide variant | not specified [RCV004303478] | Chr10:92573950 [GRCh38] Chr10:94333707 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NC_000010.11:g.(?_92483255)_(92632693_?)dup | duplication | not provided [RCV001033391] | Chr10:94243012..94392450 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_004969.4(IDE):c.850C>G (p.Pro284Ala) | single nucleotide variant | not specified [RCV004264652] | Chr10:92510097 [GRCh38] Chr10:94269854 [GRCh37] Chr10:10q23.33 |
uncertain significance |
GRCh37/hg19 10q23.31-24.1(chr10:92667881-98970384) | copy number loss | not specified [RCV002052882] | Chr10:92667881..98970384 [GRCh37] Chr10:10q23.31-24.1 |
pathogenic |
NM_004969.4(IDE):c.884A>G (p.Glu295Gly) | single nucleotide variant | not specified [RCV004312270] | Chr10:92510063 [GRCh38] Chr10:94269820 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_004969.4(IDE):c.1168A>G (p.Ile390Val) | single nucleotide variant | not specified [RCV004318050] | Chr10:92507652 [GRCh38] Chr10:94267409 [GRCh37] Chr10:10q23.33 |
uncertain significance |
GRCh37/hg19 10q23.31-23.33(chr10:89823147-96056941)x1 | copy number loss | not provided [RCV002472645] | Chr10:89823147..96056941 [GRCh37] Chr10:10q23.31-23.33 |
pathogenic |
NM_004969.4(IDE):c.1381C>T (p.Pro461Ser) | single nucleotide variant | not specified [RCV004145510] | Chr10:92504843 [GRCh38] Chr10:94264600 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_004969.4(IDE):c.2353G>A (p.Val785Ile) | single nucleotide variant | not specified [RCV004233804] | Chr10:92465811 [GRCh38] Chr10:94225568 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_004969.4(IDE):c.2932A>G (p.Ile978Val) | single nucleotide variant | not specified [RCV004190789] | Chr10:92455608 [GRCh38] Chr10:94215365 [GRCh37] Chr10:10q23.33 |
likely benign |
NM_004969.4(IDE):c.1631C>T (p.Ala544Val) | single nucleotide variant | not specified [RCV004199645] | Chr10:92487221 [GRCh38] Chr10:94246978 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_004969.4(IDE):c.1456G>A (p.Glu486Lys) | single nucleotide variant | not specified [RCV004169624] | Chr10:92490570 [GRCh38] Chr10:94250327 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_004969.4(IDE):c.2141C>G (p.Ala714Gly) | single nucleotide variant | not specified [RCV004191795] | Chr10:92470321 [GRCh38] Chr10:94230078 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_004969.4(IDE):c.825T>G (p.Phe275Leu) | single nucleotide variant | not specified [RCV004187258] | Chr10:92510122 [GRCh38] Chr10:94269879 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_004969.4(IDE):c.1328A>G (p.Tyr443Cys) | single nucleotide variant | not specified [RCV004087184] | Chr10:92504896 [GRCh38] Chr10:94264653 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_004969.4(IDE):c.1808C>T (p.Ser603Leu) | single nucleotide variant | not specified [RCV004165669] | Chr10:92479353 [GRCh38] Chr10:94239110 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_004969.4(IDE):c.732C>A (p.Phe244Leu) | single nucleotide variant | not specified [RCV004108656] | Chr10:92514972 [GRCh38] Chr10:94274729 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_004969.4(IDE):c.2218G>C (p.Gly740Arg) | single nucleotide variant | not specified [RCV004122441] | Chr10:92468981 [GRCh38] Chr10:94228738 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_004969.4(IDE):c.2779T>C (p.Tyr927His) | single nucleotide variant | not specified [RCV004157749] | Chr10:92461235 [GRCh38] Chr10:94220992 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_004969.4(IDE):c.2225T>C (p.Met742Thr) | single nucleotide variant | not specified [RCV004158901] | Chr10:92468974 [GRCh38] Chr10:94228731 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_004969.4(IDE):c.524A>G (p.Asp175Gly) | single nucleotide variant | not specified [RCV004185197] | Chr10:92531885 [GRCh38] Chr10:94291642 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_004969.4(IDE):c.2866G>A (p.Val956Ile) | single nucleotide variant | not specified [RCV004236706] | Chr10:92456389 [GRCh38] Chr10:94216146 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_004969.4(IDE):c.1352C>T (p.Thr451Ile) | single nucleotide variant | not specified [RCV004174255] | Chr10:92504872 [GRCh38] Chr10:94264629 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_004969.4(IDE):c.2718A>C (p.Lys906Asn) | single nucleotide variant | not specified [RCV004121741] | Chr10:92463774 [GRCh38] Chr10:94223531 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_004969.4(IDE):c.622A>G (p.Thr208Ala) | single nucleotide variant | not specified [RCV004175291] | Chr10:92531787 [GRCh38] Chr10:94291544 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_004969.4(IDE):c.2890G>T (p.Asp964Tyr) | single nucleotide variant | not specified [RCV004171634] | Chr10:92456365 [GRCh38] Chr10:94216122 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_004969.4(IDE):c.1531A>G (p.Lys511Glu) | single nucleotide variant | not specified [RCV004191976] | Chr10:92490495 [GRCh38] Chr10:94250252 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_004969.4(IDE):c.1381C>G (p.Pro461Ala) | single nucleotide variant | not specified [RCV004273969] | Chr10:92504843 [GRCh38] Chr10:94264600 [GRCh37] Chr10:10q23.33 |
uncertain significance |
GRCh37/hg19 10q23.32-24.1(chr10:93281410-97596360)x1 | copy number loss | See cases [RCV003159569] | Chr10:93281410..97596360 [GRCh37] Chr10:10q23.32-24.1 |
pathogenic |
NM_004969.4(IDE):c.1829C>T (p.Ala610Val) | single nucleotide variant | not specified [RCV004274620] | Chr10:92479332 [GRCh38] Chr10:94239089 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_004969.4(IDE):c.2149C>T (p.Pro717Ser) | single nucleotide variant | not specified [RCV004274075] | Chr10:92470313 [GRCh38] Chr10:94230070 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_004969.4(IDE):c.1405G>A (p.Asp469Asn) | single nucleotide variant | not specified [RCV004263860] | Chr10:92504819 [GRCh38] Chr10:94264576 [GRCh37] Chr10:10q23.33 |
uncertain significance |
GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143) | copy number gain | Distal trisomy 10q [RCV003319593] | Chr10:11138692..135427143 [GRCh37] Chr10:10p14-q26.3 |
pathogenic |
GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143) | copy number loss | Distal 10q deletion syndrome [RCV003319583] | Chr10:12829206..135427143 [GRCh37] Chr10:10p13-q26.3 |
pathogenic |
NM_004969.4(IDE):c.1707G>T (p.Leu569Phe) | single nucleotide variant | not specified [RCV004356790] | Chr10:92483287 [GRCh38] Chr10:94243044 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_004969.4(IDE):c.1520A>T (p.Asp507Val) | single nucleotide variant | not specified [RCV004339771] | Chr10:92490506 [GRCh38] Chr10:94250263 [GRCh37] Chr10:10q23.33 |
uncertain significance |
GRCh37/hg19 10q23.32-23.33(chr10:93788061-96452666)x3 | copy number gain | not provided [RCV003484809] | Chr10:93788061..96452666 [GRCh37] Chr10:10q23.32-23.33 |
uncertain significance |
GRCh37/hg19 10q23.33-24.2(chr10:94283369-101820913)x1 | copy number loss | not specified [RCV003986912] | Chr10:94283369..101820913 [GRCh37] Chr10:10q23.33-24.2 |
pathogenic |
GRCh37/hg19 10q23.31-24.2(chr10:90796994-100067505)x1 | copy number loss | not specified [RCV003986861] | Chr10:90796994..100067505 [GRCh37] Chr10:10q23.31-24.2 |
pathogenic |
NM_004969.4(IDE):c.1286G>A (p.Arg429Lys) | single nucleotide variant | not specified [RCV004397838] | Chr10:92506482 [GRCh38] Chr10:94266239 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_004969.4(IDE):c.1450T>G (p.Ser484Ala) | single nucleotide variant | not specified [RCV004397840] | Chr10:92490576 [GRCh38] Chr10:94250333 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_004969.4(IDE):c.2260C>T (p.His754Tyr) | single nucleotide variant | not specified [RCV004397843] | Chr10:92468939 [GRCh38] Chr10:94228696 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_004969.4(IDE):c.2734A>G (p.Ile912Val) | single nucleotide variant | not specified [RCV004397844] | Chr10:92463758 [GRCh38] Chr10:94223515 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_004969.4(IDE):c.32C>T (p.Pro11Leu) | single nucleotide variant | not specified [RCV004397845] | Chr10:92573988 [GRCh38] Chr10:94333745 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_004969.4(IDE):c.811G>T (p.Val271Leu) | single nucleotide variant | not specified [RCV004397847] | Chr10:92510136 [GRCh38] Chr10:94269893 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_004969.4(IDE):c.971A>G (p.Lys324Arg) | single nucleotide variant | not specified [RCV004397850] | Chr10:92508817 [GRCh38] Chr10:94268574 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_004969.4(IDE):c.673A>G (p.Thr225Ala) | single nucleotide variant | not specified [RCV004635485] | Chr10:92515031 [GRCh38] Chr10:94274788 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_004969.4(IDE):c.2417T>C (p.Met806Thr) | single nucleotide variant | not specified [RCV004626317] | Chr10:92465747 [GRCh38] Chr10:94225504 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_004969.4(IDE):c.1897G>C (p.Gly633Arg) | single nucleotide variant | not specified [RCV004626318] | Chr10:92475982 [GRCh38] Chr10:94235739 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_004969.4(IDE):c.1400T>G (p.Val467Gly) | single nucleotide variant | not specified [RCV004635484] | Chr10:92504824 [GRCh38] Chr10:94264581 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_004969.4(IDE):c.2646C>G (p.Phe882Leu) | single nucleotide variant | not specified [RCV004635483] | Chr10:92463846 [GRCh38] Chr10:94223603 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_004969.4(IDE):c.2209G>A (p.Ala737Thr) | single nucleotide variant | not specified [RCV004626315] | Chr10:92468990 [GRCh38] Chr10:94228747 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_004969.4(IDE):c.217A>T (p.Ile73Phe) | single nucleotide variant | not specified [RCV004397842] | Chr10:92537432 [GRCh38] Chr10:94297189 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_004969.4(IDE):c.1141G>A (p.Glu381Lys) | single nucleotide variant | not specified [RCV004354069] | Chr10:92508125 [GRCh38] Chr10:94267882 [GRCh37] Chr10:10q23.33 |
uncertain significance |
GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3 | copy number gain | not provided [RCV003484798] | Chr10:42709645..100834951 [GRCh37] Chr10:10q11.21-24.2 |
pathogenic |
NM_004969.4(IDE):c.946A>T (p.Thr316Ser) | single nucleotide variant | not specified [RCV004397849] | Chr10:92508842 [GRCh38] Chr10:94268599 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_004969.4(IDE):c.1961T>C (p.Ile654Thr) | single nucleotide variant | not specified [RCV004397841] | Chr10:92475918 [GRCh38] Chr10:94235675 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_004969.4(IDE):c.424A>G (p.Thr142Ala) | single nucleotide variant | not specified [RCV004397846] | Chr10:92534645 [GRCh38] Chr10:94294402 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_004969.4(IDE):c.1354G>A (p.Ala452Thr) | single nucleotide variant | not specified [RCV004397839] | Chr10:92504870 [GRCh38] Chr10:94264627 [GRCh37] Chr10:10q23.33 |
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 |
RH80115 |
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GDB:193867 |
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STS-T88914 |
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D10S2141 |
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STS-D29519 |
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RH44800 |
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WI-17525 |
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IDE |
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adipose tissue
|
alimentary part of gastrointestinal system
|
appendage
|
circulatory system
|
ectoderm
|
endocrine system
|
endoderm
|
entire extraembryonic component
|
exocrine system
|
hemolymphoid system
|
hepatobiliary system
|
integumental system
|
mesenchyme
|
mesoderm
|
musculoskeletal system
|
nervous system
|
renal system
|
reproductive system
|
respiratory system
|
sensory system
|
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1204 | 2433 | 2788 | 2245 | 4945 | 1723 | 2345 | 4 | 622 | 1949 | 464 | 2269 | 7285 | 6457 | 53 | 3710 | 848 | 1735 | 1612 | 171 |
RefSeq Transcripts | NG_013012 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001165946 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001322793 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001322794 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001322795 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001322796 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001322797 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001410974 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_004969 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_136399 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017016187 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017016188 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017016189 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017016190 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047425169 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047425171 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047425172 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047425173 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047425174 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047425175 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054365744 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054365745 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054365746 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054365747 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054365748 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054365749 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054365750 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054365751 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054365752 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_001747103 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_945727 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AB209204 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AK093287 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK302578 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK312810 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK316407 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL356128 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC036188 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC096336 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC096337 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC096338 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC096339 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BX648462 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CF780766 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471066 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CK824565 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068268 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DA643304 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DA879845 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DB204538 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DB219527 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DB445060 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
HB485919 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
M21188 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
Ensembl Acc Id: | ENST00000265986 ⟹ ENSP00000265986 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000371581 ⟹ ENSP00000360637 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000436178 ⟹ ENSP00000408850 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000462988 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000463640 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000478361 ⟹ ENSP00000473506 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000492362 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000496903 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000650060 ⟹ ENSP00000497272 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000676540 ⟹ ENSP00000504633 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000676626 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000676816 ⟹ ENSP00000504709 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000676987 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000677079 ⟹ ENSP00000503417 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000677096 ⟹ ENSP00000503793 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000677193 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000677196 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000677434 ⟹ ENSP00000503274 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000677569 ⟹ ENSP00000503462 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000677953 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000677978 ⟹ ENSP00000503310 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000678026 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000678082 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000678097 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000678248 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000678410 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000678458 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000678673 ⟹ ENSP00000503082 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000678715 ⟹ ENSP00000503025 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000678824 ⟹ ENSP00000503571 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000678844 ⟹ ENSP00000504561 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000678977 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000679069 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000679089 ⟹ ENSP00000504067 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000679174 ⟹ ENSP00000504758 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000679222 ⟹ ENSP00000504070 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000679232 ⟹ ENSP00000503818 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000679304 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000679312 ⟹ ENSP00000504442 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | NM_001165946 ⟹ NP_001159418 | ||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001322793 ⟹ NP_001309722 | ||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
|
||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001322794 ⟹ NP_001309723 | ||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
|
||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001322795 ⟹ NP_001309724 | ||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
|
||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001322796 ⟹ NP_001309725 | ||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
|
||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001322797 ⟹ NP_001309726 | ||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
|
||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001410974 ⟹ NP_001397903 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | NM_004969 ⟹ NP_004960 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NR_136399 | ||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||
Type: | NON-CODING | ||||||||||||||||
Position: |
|
||||||||||||||||
Sequence: |
RefSeq Acc Id: | XM_017016187 ⟹ XP_016871676 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_017016188 ⟹ XP_016871677 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_017016190 ⟹ XP_016871679 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_047425169 ⟹ XP_047281125 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047425171 ⟹ XP_047281127 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047425172 ⟹ XP_047281128 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047425173 ⟹ XP_047281129 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047425174 ⟹ XP_047281130 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047425175 ⟹ XP_047281131 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054365744 ⟹ XP_054221719 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054365745 ⟹ XP_054221720 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054365746 ⟹ XP_054221721 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054365747 ⟹ XP_054221722 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054365748 ⟹ XP_054221723 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054365749 ⟹ XP_054221724 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054365750 ⟹ XP_054221725 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054365751 ⟹ XP_054221726 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054365752 ⟹ XP_054221727 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Protein RefSeqs | NP_001159418 | (Get FASTA) | NCBI Sequence Viewer |
NP_001309722 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001309723 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001309724 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001309725 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001309726 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001397903 | (Get FASTA) | NCBI Sequence Viewer | |
NP_004960 | (Get FASTA) | NCBI Sequence Viewer | |
XP_016871676 | (Get FASTA) | NCBI Sequence Viewer | |
XP_016871677 | (Get FASTA) | NCBI Sequence Viewer | |
XP_016871679 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047281125 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047281127 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047281128 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047281129 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047281130 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047281131 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054221719 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054221720 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054221721 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054221722 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054221723 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054221724 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054221725 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054221726 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054221727 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAA52712 | (Get FASTA) | NCBI Sequence Viewer |
AAH96336 | (Get FASTA) | NCBI Sequence Viewer | |
AAH96337 | (Get FASTA) | NCBI Sequence Viewer | |
AAH96339 | (Get FASTA) | NCBI Sequence Viewer | |
BAD92441 | (Get FASTA) | NCBI Sequence Viewer | |
BAG35668 | (Get FASTA) | NCBI Sequence Viewer | |
BAG52680 | (Get FASTA) | NCBI Sequence Viewer | |
BAH13752 | (Get FASTA) | NCBI Sequence Viewer | |
BAH14778 | (Get FASTA) | NCBI Sequence Viewer | |
CBA13324 | (Get FASTA) | NCBI Sequence Viewer | |
EAW50090 | (Get FASTA) | NCBI Sequence Viewer | |
EAW50091 | (Get FASTA) | NCBI Sequence Viewer | |
EAW50092 | (Get FASTA) | NCBI Sequence Viewer | |
EAW50093 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000265986 | ||
ENSP00000265986.6 | |||
ENSP00000360637 | |||
ENSP00000360637.5 | |||
ENSP00000473506.1 | |||
ENSP00000497272 | |||
ENSP00000497272.1 | |||
ENSP00000503025 | |||
ENSP00000503025.1 | |||
ENSP00000503082.1 | |||
ENSP00000503274 | |||
ENSP00000503274.1 | |||
ENSP00000503310.1 | |||
ENSP00000503417.1 | |||
ENSP00000503462.1 | |||
ENSP00000503571.1 | |||
ENSP00000503793.1 | |||
ENSP00000503818.1 | |||
ENSP00000504053 | |||
ENSP00000504053.1 | |||
ENSP00000504067.1 | |||
ENSP00000504070.1 | |||
ENSP00000504442.1 | |||
ENSP00000504561.1 | |||
ENSP00000504633.1 | |||
ENSP00000504709.1 | |||
ENSP00000504758.1 | |||
GenBank Protein | P14735 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_004960 ⟸ NM_004969 |
- Peptide Label: | isoform 1 |
- UniProtKB: | D3DR35 (UniProtKB/Swiss-Prot), B7ZAU2 (UniProtKB/Swiss-Prot), B2R721 (UniProtKB/Swiss-Prot), Q5T5N2 (UniProtKB/Swiss-Prot), P14735 (UniProtKB/Swiss-Prot), A0A7I2V3E3 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001159418 ⟸ NM_001165946 |
- Peptide Label: | isoform 2 |
- UniProtKB: | B7Z7W6 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001309723 ⟸ NM_001322794 |
- Peptide Label: | isoform 4 |
- UniProtKB: | A0A7I2V3E3 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001309722 ⟸ NM_001322793 |
- Peptide Label: | isoform 3 |
- UniProtKB: | A0A3B3ISG5 (UniProtKB/TrEMBL), A0A7I2V3E3 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001309724 ⟸ NM_001322795 |
- Peptide Label: | isoform 5 |
- UniProtKB: | A0A7I2V3E3 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001309725 ⟸ NM_001322796 |
- Peptide Label: | isoform 5 |
- UniProtKB: | A0A7I2V3E3 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001309726 ⟸ NM_001322797 |
- Peptide Label: | isoform 6 |
- UniProtKB: | B3KSB8 (UniProtKB/TrEMBL), B7Z7W6 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_016871679 ⟸ XM_017016190 |
- Peptide Label: | isoform X2 |
- Sequence: |
RefSeq Acc Id: | XP_016871677 ⟸ XM_017016188 |
- Peptide Label: | isoform X3 |
- UniProtKB: | A0A7I2V3E3 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_016871676 ⟸ XM_017016187 |
- Peptide Label: | isoform X3 |
- UniProtKB: | A0A7I2V3E3 (UniProtKB/TrEMBL) |
- Sequence: |
Ensembl Acc Id: | ENSP00000360637 ⟸ ENST00000371581 |
Ensembl Acc Id: | ENSP00000473506 ⟸ ENST00000478361 |
Ensembl Acc Id: | ENSP00000497272 ⟸ ENST00000650060 |
Ensembl Acc Id: | ENSP00000408850 ⟸ ENST00000436178 |
Ensembl Acc Id: | ENSP00000265986 ⟸ ENST00000265986 |
Ensembl Acc Id: | ENSP00000504709 ⟸ ENST00000676816 |
Ensembl Acc Id: | ENSP00000504633 ⟸ ENST00000676540 |
Ensembl Acc Id: | ENSP00000503417 ⟸ ENST00000677079 |
Ensembl Acc Id: | ENSP00000503793 ⟸ ENST00000677096 |
Ensembl Acc Id: | ENSP00000503462 ⟸ ENST00000677569 |
Ensembl Acc Id: | ENSP00000503274 ⟸ ENST00000677434 |
Ensembl Acc Id: | ENSP00000503310 ⟸ ENST00000677978 |
Ensembl Acc Id: | ENSP00000503571 ⟸ ENST00000678824 |
Ensembl Acc Id: | ENSP00000504561 ⟸ ENST00000678844 |
Ensembl Acc Id: | ENSP00000503025 ⟸ ENST00000678715 |
Ensembl Acc Id: | ENSP00000503082 ⟸ ENST00000678673 |
Ensembl Acc Id: | ENSP00000504442 ⟸ ENST00000679312 |
Ensembl Acc Id: | ENSP00000504070 ⟸ ENST00000679222 |
Ensembl Acc Id: | ENSP00000503818 ⟸ ENST00000679232 |
Ensembl Acc Id: | ENSP00000504758 ⟸ ENST00000679174 |
Ensembl Acc Id: | ENSP00000504067 ⟸ ENST00000679089 |
RefSeq Acc Id: | XP_047281127 ⟸ XM_047425171 |
- Peptide Label: | isoform X3 |
RefSeq Acc Id: | XP_047281125 ⟸ XM_047425169 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_047281130 ⟸ XM_047425174 |
- Peptide Label: | isoform X6 |
- UniProtKB: | A0A7I2V373 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_047281128 ⟸ XM_047425172 |
- Peptide Label: | isoform X4 |
RefSeq Acc Id: | XP_047281131 ⟸ XM_047425175 |
- Peptide Label: | isoform X7 |
RefSeq Acc Id: | XP_047281129 ⟸ XM_047425173 |
- Peptide Label: | isoform X5 |
RefSeq Acc Id: | NP_001397903 ⟸ NM_001410974 |
- Peptide Label: | isoform 7 |
- UniProtKB: | A0A7I2V2P6 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054221721 ⟸ XM_054365746 |
- Peptide Label: | isoform X3 |
RefSeq Acc Id: | XP_054221723 ⟸ XM_054365748 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_054221719 ⟸ XM_054365744 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_054221722 ⟸ XM_054365747 |
- Peptide Label: | isoform X3 |
RefSeq Acc Id: | XP_054221720 ⟸ XM_054365745 |
- Peptide Label: | isoform X3 |
RefSeq Acc Id: | XP_054221726 ⟸ XM_054365751 |
- Peptide Label: | isoform X6 |
- UniProtKB: | A0A7I2V373 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054221724 ⟸ XM_054365749 |
- Peptide Label: | isoform X4 |
RefSeq Acc Id: | XP_054221727 ⟸ XM_054365752 |
- Peptide Label: | isoform X7 |
RefSeq Acc Id: | XP_054221725 ⟸ XM_054365750 |
- Peptide Label: | isoform X5 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-P14735-F1-model_v2 | AlphaFold | P14735 | 1-1019 | view protein structure |
RGD ID: | 7218159 | ||||||||
Promoter ID: | EPDNEW_H14825 | ||||||||
Type: | initiation region | ||||||||
Name: | IDE_1 | ||||||||
Description: | insulin degrading enzyme | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H14826 EPDNEW_H14827 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
RGD ID: | 7218161 | ||||||||
Promoter ID: | EPDNEW_H14826 | ||||||||
Type: | initiation region | ||||||||
Name: | IDE_2 | ||||||||
Description: | insulin degrading enzyme | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H14825 EPDNEW_H14827 | ||||||||
Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | ||||||||
Position: |
|
RGD ID: | 7218167 | ||||||||
Promoter ID: | EPDNEW_H14827 | ||||||||
Type: | initiation region | ||||||||
Name: | IDE_3 | ||||||||
Description: | insulin degrading enzyme | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H14825 EPDNEW_H14826 | ||||||||
Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | ||||||||
Position: |
|
RGD ID: | 6787770 | ||||||||
Promoter ID: | HG_KWN:10571 | ||||||||
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: | NM_004969, OTTHUMT00000049394 | ||||||||
Position: |
|
Database | Acc Id | Source(s) |
AGR Gene | HGNC:5381 | AgrOrtholog |
COSMIC | IDE | COSMIC |
Ensembl Genes | ENSG00000119912 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENST00000265986 | ENTREZGENE |
ENST00000265986.11 | UniProtKB/Swiss-Prot | |
ENST00000371581 | ENTREZGENE | |
ENST00000371581.9 | UniProtKB/Swiss-Prot | |
ENST00000478361.6 | UniProtKB/TrEMBL | |
ENST00000496903 | ENTREZGENE | |
ENST00000496903.5 | UniProtKB/TrEMBL | |
ENST00000650060 | ENTREZGENE | |
ENST00000650060.2 | UniProtKB/TrEMBL | |
ENST00000676540.1 | UniProtKB/TrEMBL | |
ENST00000676816.1 | UniProtKB/TrEMBL | |
ENST00000677079.1 | UniProtKB/TrEMBL | |
ENST00000677096.1 | UniProtKB/TrEMBL | |
ENST00000677434 | ENTREZGENE | |
ENST00000677434.1 | UniProtKB/TrEMBL | |
ENST00000677569.1 | UniProtKB/TrEMBL | |
ENST00000677978.1 | UniProtKB/TrEMBL | |
ENST00000678458 | ENTREZGENE | |
ENST00000678673.1 | UniProtKB/TrEMBL | |
ENST00000678715 | ENTREZGENE | |
ENST00000678715.1 | UniProtKB/TrEMBL | |
ENST00000678824.1 | UniProtKB/TrEMBL | |
ENST00000678844 | ENTREZGENE | |
ENST00000678844.1 | UniProtKB/TrEMBL | |
ENST00000679089.1 | UniProtKB/TrEMBL | |
ENST00000679174.1 | UniProtKB/TrEMBL | |
ENST00000679222.1 | UniProtKB/TrEMBL | |
ENST00000679232.1 | UniProtKB/TrEMBL | |
ENST00000679312.1 | UniProtKB/TrEMBL | |
Gene3D-CATH | Metalloenzyme, LuxS/M16 peptidase-like | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
GTEx | ENSG00000119912 | GTEx |
HGNC ID | HGNC:5381 | ENTREZGENE |
Human Proteome Map | IDE | Human Proteome Map |
InterPro | Metalloenz_LuxS/M16 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Pept_M16_N | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pept_M16_Zn_BS | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Peptidase_M16 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Peptidase_M16_C | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Peptidase_M16_M | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PqqF-like_C_4 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | hsa:3416 | UniProtKB/Swiss-Prot |
NCBI Gene | 3416 | ENTREZGENE |
OMIM | 146680 | OMIM |
PANTHER | INSULIN-DEGRADING ENZYME-RELATED | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
NARDILYSIN | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | Peptidase_M16 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Peptidase_M16_C | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Peptidase_M16_M | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PqqF-like_C_4 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PharmGKB | PA29629 | PharmGKB |
PROSITE | INSULINASE | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Superfamily-SCOP | SSF63411 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
UniProt | A0A3B3ISG5 | ENTREZGENE, UniProtKB/TrEMBL |
A0A7I2V2P6 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A7I2V2S1_HUMAN | UniProtKB/TrEMBL | |
A0A7I2V373 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A7I2V3E3 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A7I2V3K9_HUMAN | UniProtKB/TrEMBL | |
A0A7I2V4A4_HUMAN | UniProtKB/TrEMBL | |
A0A7I2V4Q3_HUMAN | UniProtKB/TrEMBL | |
A0A7I2V610_HUMAN | UniProtKB/TrEMBL | |
A0A7I2V612_HUMAN | UniProtKB/TrEMBL | |
A0A7I2V634_HUMAN | UniProtKB/TrEMBL | |
A0A7I2YQS6_HUMAN | UniProtKB/TrEMBL | |
A0A7I2YQV5_HUMAN | UniProtKB/TrEMBL | |
B2R721 | ENTREZGENE | |
B3KSB8 | ENTREZGENE, UniProtKB/TrEMBL | |
B7Z7W6 | ENTREZGENE, UniProtKB/TrEMBL | |
B7ZAU2 | ENTREZGENE | |
D3DR35 | ENTREZGENE | |
IDE_HUMAN | UniProtKB/Swiss-Prot, ENTREZGENE | |
Q5T5N2 | ENTREZGENE | |
R4GN65_HUMAN | UniProtKB/TrEMBL | |
UniProt Secondary | B2R721 | UniProtKB/Swiss-Prot |
B7ZAU2 | UniProtKB/Swiss-Prot | |
D3DR35 | UniProtKB/Swiss-Prot | |
Q5T5N2 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2016-02-10 | IDE | insulin degrading enzyme | insulin-degrading enzyme | Symbol and/or name change | 5135510 | APPROVED |