Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | genetic disease | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | |
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Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | genetic disease | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | |
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# | Reference Title | Reference Citation |
1. | PYK2 expression and phosphorylation increases in pressure overload-induced left ventricular hypertrophy. | Bayer AL, etal., Am J Physiol Heart Circ Physiol. 2002 Aug;283(2):H695-706. |
2. | Proline-rich tyrosine kinase 2 regulates osteoprogenitor cells and bone formation, and offers an anabolic treatment approach for osteoporosis. | Buckbinder L, etal., Proc Natl Acad Sci U S A. 2007 Jun 19;104(25):10619-24. Epub 2007 May 30. |
3. | [Effects of prednisone on renal FAK and Pyk2 expressions in rats with adriamycin- induced nephritis]. | Chen X, etal., Nan Fang Yi Ke Da Xue Xue Bao. 2014 Jul;34(8):1149-53. |
4. | Novel role of proline-rich nonreceptor tyrosine kinase 2 in vascular wall remodeling after balloon injury. | Gadepalli R, etal., Arterioscler Thromb Vasc Biol. 2012 Nov;32(11):2652-61. doi: 10.1161/ATVBAHA.112.253112. Epub 2012 Aug 23. |
5. | GOAs Human GO annotations | GOA_HUMAN data from the GO Consortium |
6. | Suppression of postsynaptic density protein 95 by antisense oligonucleotides diminishes postischemic pyramidal cell death in rat hippocampal CA1 subfield. | Hou XY, etal., Neurosci Lett. 2005 Sep 16;385(3):230-3. |
7. | Increase in tyrosine phosphorylation of the NMDA receptor following the induction of status epilepticus. | Huo JZ, etal., Neurosci Lett. 2006 Jul 3;401(3):266-70. Epub 2006 Apr 4. |
8. | Protein tyrosine kinase 2beta as a candidate gene for hypertension. | Kamide K, etal., Pharmacogenet Genomics. 2007 Nov;17(11):931-9. |
9. | High resolution genomic analysis of sporadic breast cancer using array-based comparative genomic hybridization. | Naylor TL, etal., Breast Cancer Res. 2005;7(6):R1186-98. Epub 2005 Nov 24. |
10. | Losartan improves aortic endothelium-dependent relaxation via proline-rich tyrosine kinase 2/Src/Akt pathway in type 2 diabetic Goto-Kakizaki rats. | Nemoto S, etal., Am J Physiol Heart Circ Physiol. 2011 Dec;301(6):H2383-94. doi: 10.1152/ajpheart.00178.2011. Epub 2011 Sep 16. |
11. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
12. | PID Annotation Import Pipeline | Pipeline to import Pathway Interaction Database annotations from NCI into RGD |
13. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
14. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
15. | Variations of proline-rich kinase Pyk2 expression correlate with prostate cancer progression. | Stanzione R, etal., Lab Invest. 2001 Jan;81(1):51-9. |
16. | Hypertension promotes phosphorylation of focal adhesion kinase and proline-rich tyrosine kinase 2 in rats: implication for the pathogenesis of hypertensive vascular disease. | Sugimura K, etal., Tohoku J Exp Med. 2010 Nov;222(3):201-10. |
17. | Increased expression of cell adhesion kinase beta in human and rat crescentic glomerulonephritis. | Takagi C, etal., Am J Kidney Dis 2002 Jan;39(1):174-82. |
18. | Cerebral ischemia and seizures induce tyrosine phosphorylation of PYK2 in neurons and microglial cells. | Tian D, etal., J Neurosci. 2000 Sep 1;20(17):6478-87. |
19. | Role of PYK2 in the development of obesity and insulin resistance. | Yu Y, etal., Biochem Biophys Res Commun. 2005 Sep 9;334(4):1085-91. |
PMID:1718748 | PMID:7499242 | PMID:7529876 | PMID:7544443 | PMID:7673154 | PMID:8497321 | PMID:8670418 | PMID:8792832 | PMID:8798684 | PMID:8838818 | PMID:8849729 | PMID:8889548 |
PMID:8939945 | PMID:8995252 | PMID:9020138 | PMID:9091579 | PMID:9099734 | PMID:9104812 | PMID:9242628 | PMID:9344848 | PMID:9362541 | PMID:9402324 | PMID:9422762 | PMID:9442086 |
PMID:9446638 | PMID:9512511 | PMID:9545257 | PMID:9560226 | PMID:9565592 | PMID:9621077 | PMID:9750131 | PMID:9858471 | PMID:10022914 | PMID:10022920 | PMID:10082674 | PMID:10194422 |
PMID:10229084 | PMID:10322114 | PMID:10329689 | PMID:10354709 | PMID:10356363 | PMID:10518561 | PMID:10521452 | PMID:10702271 | PMID:10708762 | PMID:10713673 | PMID:10747947 | PMID:10769033 |
PMID:10777553 | PMID:10797305 | PMID:10821841 | PMID:10867021 | PMID:10880513 | PMID:10961871 | PMID:10980697 | PMID:11007796 | PMID:11036077 | PMID:11149930 | PMID:11162638 | PMID:11238453 |
PMID:11278472 | PMID:11311138 | PMID:11337490 | PMID:11352632 | PMID:11461120 | PMID:11478920 | PMID:11493697 | PMID:11668182 | PMID:11683411 | PMID:11739373 | PMID:11744621 | PMID:11751905 |
PMID:11818507 | PMID:11820787 | PMID:11850124 | PMID:11856738 | PMID:11916084 | PMID:11937718 | PMID:12011061 | PMID:12063569 | PMID:12077257 | PMID:12082274 | PMID:12096713 | PMID:12231407 |
PMID:12244133 | PMID:12354773 | PMID:12458207 | PMID:12477932 | PMID:12486027 | PMID:12515814 | PMID:12522270 | PMID:12576483 | PMID:12578912 | PMID:12606503 | PMID:12626562 | PMID:12628756 |
PMID:12629171 | PMID:12771146 | PMID:12771190 | PMID:12794117 | PMID:12844492 | PMID:12857973 | PMID:12893833 | PMID:12933673 | PMID:12943720 | PMID:12960231 | PMID:14585963 | PMID:14676843 |
PMID:14684825 | PMID:14729602 | PMID:14961028 | PMID:14963038 | PMID:14969582 | PMID:15050747 | PMID:15070849 | PMID:15105428 | PMID:15128501 | PMID:15128873 | PMID:15213840 | PMID:15489334 |
PMID:15499613 | PMID:15539082 | PMID:15557335 | PMID:15585656 | PMID:15588985 | PMID:15661758 | PMID:15695828 | PMID:15717329 | PMID:15778498 | PMID:15835820 | PMID:15881658 | PMID:15944312 |
PMID:15967096 | PMID:16055703 | PMID:16202977 | PMID:16330715 | PMID:16344560 | PMID:16421571 | PMID:16433632 | PMID:16514607 | PMID:16751776 | PMID:16760434 | PMID:16774943 | PMID:16783820 |
PMID:16840719 | PMID:16945503 | PMID:16949788 | PMID:16998626 | PMID:17192257 | PMID:17205062 | PMID:17329398 | PMID:17512525 | PMID:17551499 | PMID:17563746 | PMID:17581868 | PMID:17716864 |
PMID:17785844 | PMID:17906699 | PMID:17910947 | PMID:17950644 | PMID:18029348 | PMID:18086875 | PMID:18198130 | PMID:18365874 | PMID:18367725 | PMID:18390748 | PMID:18437915 | PMID:18453587 |
PMID:18507841 | PMID:18571765 | PMID:18632858 | PMID:18667434 | PMID:18765415 | PMID:18794150 | PMID:18832579 | PMID:18954908 | PMID:19047047 | PMID:19086031 | PMID:19106639 | PMID:19207108 |
PMID:19358827 | PMID:19380485 | PMID:19415692 | PMID:19458494 | PMID:19509258 | PMID:19561089 | PMID:19661918 | PMID:19700666 | PMID:19706888 | PMID:19718025 | PMID:19880522 | PMID:19913121 |
PMID:19930834 | PMID:20028775 | PMID:20056178 | PMID:20074345 | PMID:20180987 | PMID:20215112 | PMID:20308428 | PMID:20379614 | PMID:20381867 | PMID:20543098 | PMID:20628086 | PMID:20688918 |
PMID:20724588 | PMID:20800603 | PMID:20842205 | PMID:20849950 | PMID:20881009 | PMID:20946164 | PMID:20966971 | PMID:21114537 | PMID:21245381 | PMID:21357692 | PMID:21424732 | PMID:21426305 |
PMID:21533080 | PMID:21602932 | PMID:21640103 | PMID:21666110 | PMID:21840393 | PMID:21873635 | PMID:22023045 | PMID:22096562 | PMID:22188814 | PMID:22190034 | PMID:22454420 | PMID:22581436 |
PMID:22618716 | PMID:22745829 | PMID:22842493 | PMID:22923218 | PMID:22939624 | PMID:23119100 | PMID:23142219 | PMID:23216754 | PMID:23220172 | PMID:23259602 | PMID:23292187 | PMID:23300847 |
PMID:23302305 | PMID:23587524 | PMID:23618355 | PMID:23922106 | PMID:23986795 | PMID:24072693 | PMID:24097630 | PMID:24108181 | PMID:24142406 | PMID:24162737 | PMID:24163766 | PMID:24176282 |
PMID:24413044 | PMID:24523919 | PMID:24598361 | PMID:24965120 | PMID:25099615 | PMID:25174335 | PMID:25180269 | PMID:25217697 | PMID:25219547 | PMID:25231990 | PMID:25241761 | PMID:25387834 |
PMID:25415317 | PMID:25433371 | PMID:25707991 | PMID:25778396 | PMID:25889845 | PMID:25924204 | PMID:25967238 | PMID:26084289 | PMID:26109718 | PMID:26202465 | PMID:26274564 | PMID:26330541 |
PMID:26352169 | PMID:26866573 | PMID:26866924 | PMID:27080426 | PMID:27181591 | PMID:27210483 | PMID:27492635 | PMID:27602957 | PMID:27613122 | PMID:27793840 | PMID:28122716 | PMID:28218251 |
PMID:28385807 | PMID:28555636 | PMID:28694190 | PMID:28699640 | PMID:28973302 | PMID:29133485 | PMID:29507755 | PMID:30020827 | PMID:30250159 | PMID:30952431 | PMID:31110200 | PMID:31118051 |
PMID:31413325 | PMID:31980649 | PMID:32510326 | PMID:32693110 | PMID:32707033 | PMID:32727877 | PMID:32814053 | PMID:32956670 | PMID:33082554 | PMID:33568623 | PMID:33785524 | PMID:34313839 |
PMID:34857952 | PMID:34905657 | PMID:34943950 | PMID:35142150 | PMID:35192416 | PMID:36215168 | PMID:36253980 | PMID:36470481 | PMID:36736316 | PMID:36931259 | PMID:37098808 | PMID:37269155 |
PMID:37487877 | PMID:37894811 | PMID:38321895 |
PTK2B (Homo sapiens - human) |
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Ptk2b (Mus musculus - house mouse) |
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Ptk2b (Rattus norvegicus - Norway rat) |
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Ptk2b (Chinchilla lanigera - long-tailed chinchilla) |
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PTK2B (Pan paniscus - bonobo/pygmy chimpanzee) |
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PTK2B (Canis lupus familiaris - dog) |
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Ptk2b (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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PTK2B (Sus scrofa - pig) |
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PTK2B (Chlorocebus sabaeus - green monkey) |
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Ptk2b (Heterocephalus glaber - naked mole-rat) |
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.
Variants in PTK2B
68 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3 | copy number gain | See cases [RCV000050294] | Chr8:12609975..42085703 [GRCh38] Chr8:12467484..41943221 [GRCh37] Chr8:12511855..42062378 [NCBI36] Chr8:8p23.1-11.21 |
pathogenic |
GRCh38/hg38 8p23.3-21.1(chr8:2475295-27504279)x1 | copy number loss | See cases [RCV000050297] | Chr8:2475295..27504279 [GRCh38] Chr8:2292235..27361796 [GRCh37] Chr8:2121457..27417713 [NCBI36] Chr8:8p23.3-21.1 |
pathogenic |
GRCh38/hg38 8p21.2-q11.21(chr8:25832130-48521849)x3 | copy number gain | See cases [RCV000050904] | Chr8:25832130..48521849 [GRCh38] Chr8:25689646..49434409 [GRCh37] Chr8:25745563..49596962 [NCBI36] Chr8:8p21.2-q11.21 |
pathogenic |
GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3 | copy number gain | See cases [RCV000050912] | Chr8:12728904..43673207 [GRCh38] Chr8:12586413..43528350 [GRCh37] Chr8:12630784..43647507 [NCBI36] Chr8:8p23.1-11.1 |
pathogenic |
GRCh38/hg38 8p23.1-12(chr8:12383584-36370018)x3 | copy number gain | See cases [RCV000051145] | Chr8:12383584..36370018 [GRCh38] Chr8:12241093..36227536 [GRCh37] Chr8:12285464..36347088 [NCBI36] Chr8:8p23.1-12 |
pathogenic |
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 | copy number gain | See cases [RCV000051206] | Chr8:241530..145049449 [GRCh38] Chr8:191530..146274835 [GRCh37] Chr8:181530..146245639 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh38/hg38 8p23.1-11.21(chr8:12728904-41928741)x3 | copy number gain | See cases [RCV000051110] | Chr8:12728904..41928741 [GRCh38] Chr8:12586413..41786259 [GRCh37] Chr8:12630784..41905416 [NCBI36] Chr8:8p23.1-11.21 |
pathogenic |
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3 | copy number gain | See cases [RCV000053630] | Chr8:12609975..43336172 [GRCh38] Chr8:12467484..43191315 [GRCh37] Chr8:12511855..43310472 [NCBI36] Chr8:8p23.1-11.1 |
pathogenic |
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43255410)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]|See cases [RCV000053631] | Chr8:12609975..43255410 [GRCh38] Chr8:12467484..43110553 [GRCh37] Chr8:12511855..43229710 [NCBI36] Chr8:8p23.1-11.1 |
pathogenic |
GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3 | copy number gain | See cases [RCV000053632] | Chr8:12750796..43532444 [GRCh38] Chr8:12608305..43387587 [GRCh37] Chr8:12652676..43506744 [NCBI36] Chr8:8p23.1-11.1 |
pathogenic |
GRCh38/hg38 8p23.1-12(chr8:12750796-29445409)x3 | copy number gain | See cases [RCV000053633] | Chr8:12750796..29445409 [GRCh38] Chr8:12608305..29302926 [GRCh37] Chr8:12652676..29358845 [NCBI36] Chr8:8p23.1-12 |
pathogenic |
GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3 | copy number gain | See cases [RCV000053635] | Chr8:14940110..47929925 [GRCh38] Chr8:14797619..48842485 [GRCh37] Chr8:14841990..49005038 [NCBI36] Chr8:8p22-q11.21 |
pathogenic |
GRCh38/hg38 8p23.1-11.23(chr8:12609975-37892000)x3 | copy number gain | See cases [RCV000053629] | Chr8:12609975..37892000 [GRCh38] Chr8:12467484..37749518 [GRCh37] Chr8:12511855..37868676 [NCBI36] Chr8:8p23.1-11.23 |
pathogenic |
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 | copy number gain | See cases [RCV000053602] | Chr8:241530..145054634 [GRCh38] Chr8:191530..146280020 [GRCh37] Chr8:181530..146250824 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] | Chr8:244417..145054775 [GRCh38] Chr8:194417..146280161 [GRCh37] Chr8:184417..146250965 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh38/hg38 8p23.3-12(chr8:96310-30614703)x3 | copy number gain | See cases [RCV000053599] | Chr8:96310..30614703 [GRCh38] Chr8:46310..30472220 [GRCh37] Chr8:36310..30591762 [NCBI36] Chr8:8p23.3-12 |
pathogenic |
GRCh38/hg38 8p21.2-12(chr8:24910364-31210737)x1 | copy number loss | See cases [RCV000054237] | Chr8:24910364..31210737 [GRCh38] Chr8:24767877..31068253 [GRCh37] Chr8:24823781..31187795 [NCBI36] Chr8:8p21.2-12 |
pathogenic |
NM_173174.2(PTK2B):c.1285C>T (p.Arg429Cys) | single nucleotide variant | Malignant melanoma [RCV000068268] | Chr8:27436292 [GRCh38] Chr8:27293809 [GRCh37] Chr8:27349726 [NCBI36] Chr8:8p21.2 |
not provided |
NM_173174.2(PTK2B):c.1480G>A (p.Glu494Lys) | single nucleotide variant | Malignant melanoma [RCV000068269] | Chr8:27437449 [GRCh38] Chr8:27294966 [GRCh37] Chr8:27350883 [NCBI36] Chr8:8p21.2 |
not provided |
NM_173174.2(PTK2B):c.2548+24G>A | single nucleotide variant | Malignant melanoma [RCV000068270] | Chr8:27451533 [GRCh38] Chr8:27309050 [GRCh37] Chr8:27364967 [NCBI36] Chr8:8p21.2 |
not provided |
GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776) | copy number gain | Abnormal fetal cardiovascular morphology [RCV001291977] | Chr8:176814..43396776 [GRCh37] Chr8:8p23.3-11.1 |
pathogenic |
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3 | copy number gain | See cases [RCV000135786] | Chr8:12609975..43673207 [GRCh38] Chr8:12467484..43528350 [GRCh37] Chr8:12511855..43647507 [NCBI36] Chr8:8p23.1-11.1 |
pathogenic |
GRCh38/hg38 8p23.1-11.1(chr8:12383584-43673207)x3 | copy number gain | See cases [RCV000135566] | Chr8:12383584..43673207 [GRCh38] Chr8:12241093..43528350 [GRCh37] Chr8:12285464..43647507 [NCBI36] Chr8:8p23.1-11.1 |
pathogenic |
GRCh38/hg38 8p23.1-11.21(chr8:12728904-40169194)x3 | copy number gain | See cases [RCV000136516] | Chr8:12728904..40169194 [GRCh38] Chr8:12586413..40026713 [GRCh37] Chr8:12630784..40145870 [NCBI36] Chr8:8p23.1-11.21 |
pathogenic |
GRCh38/hg38 8p21.2-12(chr8:24910364-31196357)x1 | copy number loss | See cases [RCV000136120] | Chr8:24910364..31196357 [GRCh38] Chr8:24767877..31053873 [GRCh37] Chr8:24823781..31173415 [NCBI36] Chr8:8p21.2-12 |
pathogenic |
GRCh38/hg38 8p23.1-12(chr8:12725750-30180521)x3 | copy number gain | See cases [RCV000136825] | Chr8:12725750..30180521 [GRCh38] Chr8:12583259..30038037 [GRCh37] Chr8:12627630..30157579 [NCBI36] Chr8:8p23.1-12 |
pathogenic |
GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3 | copy number gain | See cases [RCV000137249] | Chr8:12182421..43673207 [GRCh38] Chr8:12039930..43528350 [GRCh37] Chr8:12077339..43647507 [NCBI36] Chr8:8p23.1-11.1 |
pathogenic |
GRCh38/hg38 8p23.1-12(chr8:12698495-35476082)x3 | copy number gain | See cases [RCV000138058] | Chr8:12698495..35476082 [GRCh38] Chr8:12556004..35333600 [GRCh37] Chr8:12600375..35453142 [NCBI36] Chr8:8p23.1-12 |
pathogenic |
GRCh38/hg38 8p21.2-12(chr8:25171103-31750600)x1 | copy number loss | See cases [RCV000138081] | Chr8:25171103..31750600 [GRCh38] Chr8:25028618..31608116 [GRCh37] Chr8:25084535..31727658 [NCBI36] Chr8:8p21.2-12 |
pathogenic |
GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3 | copy number gain | See cases [RCV000137807] | Chr8:226452..38021728 [GRCh38] Chr8:176452..37879246 [GRCh37] Chr8:166452..37998403 [NCBI36] Chr8:8p23.3-11.23 |
pathogenic|likely pathogenic |
GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3 | copy number gain | See cases [RCV000138831] | Chr8:241605..31091074 [GRCh38] Chr8:191605..30948590 [GRCh37] Chr8:181605..31068132 [NCBI36] Chr8:8p23.3-12 |
pathogenic |
GRCh38/hg38 8p23.1-21.1(chr8:12382844-28625564)x3 | copy number gain | See cases [RCV000138244] | Chr8:12382844..28625564 [GRCh38] Chr8:12240353..28483081 [GRCh37] Chr8:12284724..28539000 [NCBI36] Chr8:8p23.1-21.1 |
pathogenic |
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 | copy number gain | See cases [RCV000138643] | Chr8:241605..145054781 [GRCh38] Chr8:191605..146280167 [GRCh37] Chr8:181605..146250971 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3 | copy number gain | See cases [RCV000139891] | Chr8:7141697..38695546 [GRCh38] Chr8:6999219..38553064 [GRCh37] Chr8:6986629..38672221 [NCBI36] Chr8:8p23.1-11.22 |
pathogenic |
GRCh38/hg38 8p23.1-11.22(chr8:12729023-39235934)x3 | copy number gain | See cases [RCV000139770] | Chr8:12729023..39235934 [GRCh38] Chr8:12586532..39093453 [GRCh37] Chr8:12630903..39212610 [NCBI36] Chr8:8p23.1-11.22 |
pathogenic |
GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3 | copy number gain | See cases [RCV000139796] | Chr8:12646123..43686843 [GRCh38] Chr8:12503632..43541986 [GRCh37] Chr8:12548003..43661143 [NCBI36] Chr8:8p23.1-11.1 |
pathogenic |
GRCh38/hg38 8p23.1-11.23(chr8:11851113-37216333)x3 | copy number gain | See cases [RCV000139549] | Chr8:11851113..37216333 [GRCh38] Chr8:11708622..37073851 [GRCh37] Chr8:11746031..37193009 [NCBI36] Chr8:8p23.1-11.23 |
pathogenic |
GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3 | copy number gain | See cases [RCV000141410] | Chr8:226452..34491890 [GRCh38] Chr8:176452..34349408 [GRCh37] Chr8:166452..34468950 [NCBI36] Chr8:8p23.3-12 |
pathogenic |
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 | copy number gain | See cases [RCV000141808] | Chr8:208048..145070385 [GRCh38] Chr8:158048..146295771 [GRCh37] Chr8:148048..146266575 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh38/hg38 8p23.1-12(chr8:12383584-29033946)x1 | copy number loss | See cases [RCV000142516] | Chr8:12383584..29033946 [GRCh38] Chr8:12241093..28891463 [GRCh37] Chr8:12285464..28947382 [NCBI36] Chr8:8p23.1-12 |
pathogenic |
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 | copy number gain | See cases [RCV000142021] | Chr8:21291522..145070385 [GRCh38] Chr8:21149033..146295771 [GRCh37] Chr8:21193313..146266575 [NCBI36] Chr8:8p21.3-q24.3 |
pathogenic |
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 | copy number gain | See cases [RCV000142858] | Chr8:226452..145068712 [GRCh38] Chr8:176452..146294098 [GRCh37] Chr8:166452..146264902 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh38/hg38 8p22-12(chr8:18972996-33619264)x1 | copy number loss | See cases [RCV000142747] | Chr8:18972996..33619264 [GRCh38] Chr8:18830506..33476782 [GRCh37] Chr8:18874786..33596324 [NCBI36] Chr8:8p22-12 |
pathogenic |
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 | copy number gain | See cases [RCV000148092] | Chr8:241530..145054634 [GRCh38] Chr8:191530..146280020 [GRCh37] Chr8:181530..146250824 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh38/hg38 8p23.1-11.21(chr8:12633490-40685533)x3 | copy number gain | See cases [RCV000143508] | Chr8:12633490..40685533 [GRCh38] Chr8:12490999..40543052 [GRCh37] Chr8:12535370..40662209 [NCBI36] Chr8:8p23.1-11.21 |
pathogenic |
GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3 | copy number gain | See cases [RCV000148237] | Chr8:12728904..43673207 [GRCh38] Chr8:12586413..43528350 [GRCh37] Chr8:12630784..43647507 [NCBI36] Chr8:8p23.1-11.1 |
pathogenic |
GRCh38/hg38 8p23.2-21.1(chr8:2475295-27504279)x1 | copy number loss | See cases [RCV000148252] | Chr8:2475295..27504279 [GRCh38] Chr8:2292235..27361796 [GRCh37] Chr8:2121457..27417713 [NCBI36] Chr8:8p23.2-21.1 |
pathogenic |
GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3 | copy number gain | See cases [RCV000148249] | Chr8:12609975..42085703 [GRCh38] Chr8:12467484..41943221 [GRCh37] Chr8:12511855..42062378 [NCBI36] Chr8:8p23.1-11.21 |
pathogenic |
GRCh37/hg19 8p21.3-12(chr8:20478546-28986438)x3 | copy number gain | See cases [RCV000203434] | Chr8:20478546..28986438 [GRCh37] Chr8:8p21.3-12 |
pathogenic |
GRCh37/hg19 8p23.1-11.22(chr8:12528482-39593802)x3 | copy number gain | See cases [RCV000511325] | Chr8:12528482..39593802 [GRCh37] Chr8:8p23.1-11.22 |
pathogenic |
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 | copy number gain | not provided [RCV000848478] | Chr8:158048..146295771 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
Single allele | duplication | not provided [RCV000768452] | Chr8:12546855..35816855 [GRCh37] Chr8:8p23.1-12 |
likely pathogenic |
GRCh37/hg19 8p23.3-12(chr8:158048-30262760)x3 | copy number gain | See cases [RCV000449225] | Chr8:158048..30262760 [GRCh37] Chr8:8p23.3-12 |
pathogenic |
GRCh37/hg19 8p21.2-q12.1(chr8:24772064-24813176)x3 | copy number gain | See cases [RCV000446588] | Chr8:24772064..24813176 [GRCh37] Chr8:8p21.2-q12.1 |
uncertain significance |
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 | copy number gain | See cases [RCV000447507] | Chr8:158991..146280828 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh37/hg19 8p23.3-11.1(chr8:158048-43786723)x3 | copy number gain | See cases [RCV000447909] | Chr8:158048..43786723 [GRCh37] Chr8:8p23.3-11.1 |
pathogenic |
GRCh37/hg19 8p23.1-11.1(chr8:12580132-43388233)x3 | copy number gain | See cases [RCV000447913] | Chr8:12580132..43388233 [GRCh37] Chr8:8p23.1-11.1 |
pathogenic |
GRCh37/hg19 8p21.2-12(chr8:24514488-34808438) | copy number gain | See cases [RCV000448582] | Chr8:24514488..34808438 [GRCh37] Chr8:8p21.2-12 |
pathogenic |
GRCh37/hg19 8p22-12(chr8:16992973-32612724)x1 | copy number loss | not provided [RCV000509389] | Chr8:16992973..32612724 [GRCh37] Chr8:8p22-12 |
not provided |
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) | copy number gain | See cases [RCV000510234] | Chr8:158049..146295771 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh37/hg19 8p23.1-12(chr8:12528482-33684786)x3 | copy number gain | See cases [RCV000510571] | Chr8:12528482..33684786 [GRCh37] Chr8:8p23.1-12 |
pathogenic |
GRCh37/hg19 8p23.1-11.1(chr8:11935023-43824035)x3 | copy number gain | See cases [RCV000511028] | Chr8:11935023..43824035 [GRCh37] Chr8:8p23.1-11.1 |
pathogenic |
GRCh37/hg19 8p23.1-12(chr8:11945855-34875355)x3 | copy number gain | See cases [RCV000510899] | Chr8:11945855..34875355 [GRCh37] Chr8:8p23.1-12 |
pathogenic |
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 | copy number gain | See cases [RCV000511095] | Chr8:158049..146295771 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
NM_173176.3(PTK2B):c.77T>C (p.Met26Thr) | single nucleotide variant | Inborn genetic diseases [RCV003247478] | Chr8:27397661 [GRCh38] Chr8:27255178 [GRCh37] Chr8:8p21.2 |
uncertain significance |
NM_171982.5(TRIM35):c.8G>A (p.Arg3Gln) | single nucleotide variant | Inborn genetic diseases [RCV003279703] | Chr8:27311228 [GRCh38] Chr8:27168745 [GRCh37] Chr8:8p21.2 |
uncertain significance |
NM_173176.3(PTK2B):c.2123C>T (p.Thr708Ile) | single nucleotide variant | Inborn genetic diseases [RCV003257858] | Chr8:27442958 [GRCh38] Chr8:27300475 [GRCh37] Chr8:8p21.2 |
uncertain significance |
NM_173176.3(PTK2B):c.1117C>T (p.Arg373Trp) | single nucleotide variant | Inborn genetic diseases [RCV003254069] | Chr8:27434104 [GRCh38] Chr8:27291621 [GRCh37] Chr8:8p21.2 |
uncertain significance |
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 | copy number gain | See cases [RCV000512169] | Chr8:12490999..146295771 [GRCh37] Chr8:8p23.1-q24.3 |
pathogenic |
GRCh37/hg19 8p23.1-12(chr8:12552775-35935825)x3 | copy number gain | not provided [RCV000683043] | Chr8:12552775..35935825 [GRCh37] Chr8:8p23.1-12 |
pathogenic |
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 | copy number gain | not provided [RCV000747254] | Chr8:164984..146293414 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 | copy number gain | not provided [RCV000747248] | Chr8:10213..146293414 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh37/hg19 8p23.1-12(chr8:12556004-34374150)x3 | copy number gain | not provided [RCV000762735] | Chr8:12556004..34374150 [GRCh37] Chr8:8p23.1-12 |
likely pathogenic |
NM_173176.3(PTK2B):c.1835-9A>G | single nucleotide variant | not provided [RCV000968622] | Chr8:27440228 [GRCh38] Chr8:27297745 [GRCh37] Chr8:8p21.2 |
benign |
NM_173176.3(PTK2B):c.791C>A (p.Thr264Asn) | single nucleotide variant | not provided [RCV000971324] | Chr8:27430997 [GRCh38] Chr8:27288514 [GRCh37] Chr8:8p21.2 |
likely benign |
NM_173176.3(PTK2B):c.357G>A (p.Glu119=) | single nucleotide variant | not provided [RCV000923979] | Chr8:27420047 [GRCh38] Chr8:27277564 [GRCh37] Chr8:8p21.2 |
likely benign |
GRCh37/hg19 8p21.3-21.2(chr8:22442548-27369334)x1 | copy number loss | not provided [RCV000847074] | Chr8:22442548..27369334 [GRCh37] Chr8:8p21.3-21.2 |
pathogenic |
NM_173176.3(PTK2B):c.2171C>A (p.Pro724His) | single nucleotide variant | Inborn genetic diseases [RCV003239809] | Chr8:27444228 [GRCh38] Chr8:27301745 [GRCh37] Chr8:8p21.2 |
uncertain significance |
NM_173176.3(PTK2B):c.1472G>T (p.Gly491Val) | single nucleotide variant | Inborn genetic diseases [RCV003270414] | Chr8:27437441 [GRCh38] Chr8:27294958 [GRCh37] Chr8:8p21.2 |
uncertain significance |
NM_173176.3(PTK2B):c.532C>T (p.Leu178=) | single nucleotide variant | not provided [RCV000975183] | Chr8:27422364 [GRCh38] Chr8:27279881 [GRCh37] Chr8:8p21.2 |
benign |
NM_173176.3(PTK2B):c.534G>A (p.Leu178=) | single nucleotide variant | not provided [RCV000953143] | Chr8:27422366 [GRCh38] Chr8:27279883 [GRCh37] Chr8:8p21.2 |
benign |
NM_173176.3(PTK2B):c.1075C>G (p.Gln359Glu) | single nucleotide variant | not provided [RCV000955388] | Chr8:27433522 [GRCh38] Chr8:27291039 [GRCh37] Chr8:8p21.2 |
likely benign |
NM_173176.3(PTK2B):c.1239C>T (p.Pro413=) | single nucleotide variant | not provided [RCV000956579] | Chr8:27435789 [GRCh38] Chr8:27293306 [GRCh37] Chr8:8p21.2 |
benign |
GRCh37/hg19 8p21.2-12(chr8:27064033-28832392)x3 | copy number gain | not provided [RCV002472907] | Chr8:27064033..28832392 [GRCh37] Chr8:8p21.2-12 |
uncertain significance |
GRCh37/hg19 8p21.2-21.1(chr8:24305969-28673405)x1 | copy number loss | not provided [RCV001006090] | Chr8:24305969..28673405 [GRCh37] Chr8:8p21.2-21.1 |
pathogenic |
GRCh37/hg19 8p23.1-12(chr8:12528482-29886483)x3 | copy number gain | not provided [RCV001260030] | Chr8:12528482..29886483 [GRCh37] Chr8:8p23.1-12 |
likely pathogenic |
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771) | copy number gain | Polydactyly [RCV002280629] | Chr8:158048..146295771 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
NM_171982.5(TRIM35):c.363C>T (p.Cys121=) | single nucleotide variant | not provided [RCV000953142] | Chr8:27310873 [GRCh38] Chr8:27168390 [GRCh37] Chr8:8p21.2 |
benign |
Single allele | complex | 8p inverted duplication/deletion syndrome [RCV002280753] | Chr8:158048..43019304 [GRCh37] Chr8:8p23.3-11.21 |
pathogenic |
GRCh37/hg19 8p23.3-12(chr8:158048-30187456)x1 | copy number loss | See cases [RCV002286343] | Chr8:158048..30187456 [GRCh37] Chr8:8p23.3-12 |
pathogenic |
Single allele | complex | See cases [RCV002292428] | Chr8:6999114..11935023 [GRCh37] Chr8:8p23.3-11.21 |
pathogenic |
GRCh37/hg19 8p21.2-11.22(chr8:26808969-38346383)x1 | copy number loss | not provided [RCV002472596] | Chr8:26808969..38346383 [GRCh37] Chr8:8p21.2-11.22 |
pathogenic |
NM_173176.3(PTK2B):c.1160G>A (p.Arg387Gln) | single nucleotide variant | Inborn genetic diseases [RCV002682334] | Chr8:27434527 [GRCh38] Chr8:27292044 [GRCh37] Chr8:8p21.2 |
uncertain significance |
NM_171982.5(TRIM35):c.17A>G (p.Asp6Gly) | single nucleotide variant | Inborn genetic diseases [RCV002684378] | Chr8:27311219 [GRCh38] Chr8:27168736 [GRCh37] Chr8:8p21.2 |
uncertain significance |
NM_171982.5(TRIM35):c.305G>A (p.Arg102His) | single nucleotide variant | Inborn genetic diseases [RCV002997645] | Chr8:27310931 [GRCh38] Chr8:27168448 [GRCh37] Chr8:8p21.2 |
uncertain significance |
NM_173176.3(PTK2B):c.1169A>G (p.His390Arg) | single nucleotide variant | Inborn genetic diseases [RCV002772332] | Chr8:27434536 [GRCh38] Chr8:27292053 [GRCh37] Chr8:8p21.2 |
uncertain significance |
NM_173176.3(PTK2B):c.8G>A (p.Gly3Glu) | single nucleotide variant | Inborn genetic diseases [RCV002860843] | Chr8:27397592 [GRCh38] Chr8:27255109 [GRCh37] Chr8:8p21.2 |
uncertain significance |
NM_173176.3(PTK2B):c.1232G>A (p.Arg411Gln) | single nucleotide variant | Inborn genetic diseases [RCV002729747] | Chr8:27435782 [GRCh38] Chr8:27293299 [GRCh37] Chr8:8p21.2 |
uncertain significance |
NM_173176.3(PTK2B):c.603C>A (p.Phe201Leu) | single nucleotide variant | Inborn genetic diseases [RCV002752757] | Chr8:27430144 [GRCh38] Chr8:27287661 [GRCh37] Chr8:8p21.2 |
uncertain significance |
NM_171982.5(TRIM35):c.188G>A (p.Arg63His) | single nucleotide variant | Inborn genetic diseases [RCV002818771] | Chr8:27311048 [GRCh38] Chr8:27168565 [GRCh37] Chr8:8p21.2 |
uncertain significance |
NM_173176.3(PTK2B):c.1994A>G (p.Asp665Gly) | single nucleotide variant | Inborn genetic diseases [RCV002981708] | Chr8:27440396 [GRCh38] Chr8:27297913 [GRCh37] Chr8:8p21.2 |
uncertain significance |
NM_173176.3(PTK2B):c.772G>A (p.Ala258Thr) | single nucleotide variant | Inborn genetic diseases [RCV002739313] | Chr8:27430978 [GRCh38] Chr8:27288495 [GRCh37] Chr8:8p21.2 |
uncertain significance |
NM_173176.3(PTK2B):c.2339G>A (p.Arg780Gln) | single nucleotide variant | Inborn genetic diseases [RCV002694319] | Chr8:27445918 [GRCh38] Chr8:27303435 [GRCh37] Chr8:8p21.2 |
uncertain significance |
NM_173176.3(PTK2B):c.2384A>G (p.Gln795Arg) | single nucleotide variant | Inborn genetic diseases [RCV002888743] | Chr8:27450792 [GRCh38] Chr8:27308309 [GRCh37] Chr8:8p21.2 |
uncertain significance |
NM_173176.3(PTK2B):c.2594A>G (p.Gln865Arg) | single nucleotide variant | Inborn genetic diseases [RCV002844469] | Chr8:27453159 [GRCh38] Chr8:27310676 [GRCh37] Chr8:8p21.2 |
uncertain significance |
NM_173176.3(PTK2B):c.1907G>C (p.Gly636Ala) | single nucleotide variant | Inborn genetic diseases [RCV002660050] | Chr8:27440309 [GRCh38] Chr8:27297826 [GRCh37] Chr8:8p21.2 |
uncertain significance |
NM_173176.3(PTK2B):c.3026A>T (p.Glu1009Val) | single nucleotide variant | Inborn genetic diseases [RCV003001411] | Chr8:27458505 [GRCh38] Chr8:27316022 [GRCh37] Chr8:8p21.2 |
uncertain significance |
NM_173176.3(PTK2B):c.65C>T (p.Pro22Leu) | single nucleotide variant | Inborn genetic diseases [RCV002641928] | Chr8:27397649 [GRCh38] Chr8:27255166 [GRCh37] Chr8:8p21.2 |
uncertain significance |
NM_173176.3(PTK2B):c.2421C>G (p.Ile807Met) | single nucleotide variant | Inborn genetic diseases [RCV002742248] | Chr8:27450829 [GRCh38] Chr8:27308346 [GRCh37] Chr8:8p21.2 |
uncertain significance |
NM_173176.3(PTK2B):c.2400A>C (p.Glu800Asp) | single nucleotide variant | Inborn genetic diseases [RCV002892208] | Chr8:27450808 [GRCh38] Chr8:27308325 [GRCh37] Chr8:8p21.2 |
uncertain significance |
NM_173176.3(PTK2B):c.1810A>G (p.Thr604Ala) | single nucleotide variant | Inborn genetic diseases [RCV002645519] | Chr8:27439374 [GRCh38] Chr8:27296891 [GRCh37] Chr8:8p21.2 |
uncertain significance |
NM_173176.3(PTK2B):c.1538A>G (p.Tyr513Cys) | single nucleotide variant | Inborn genetic diseases [RCV002768116] | Chr8:27437775 [GRCh38] Chr8:27295292 [GRCh37] Chr8:8p21.2 |
uncertain significance |
NM_173176.3(PTK2B):c.2648A>G (p.Asn883Ser) | single nucleotide variant | Inborn genetic diseases [RCV002893705] | Chr8:27454206 [GRCh38] Chr8:27311723 [GRCh37] Chr8:8p21.2 |
uncertain significance |
NM_173176.3(PTK2B):c.1240G>A (p.Gly414Arg) | single nucleotide variant | Inborn genetic diseases [RCV002708422] | Chr8:27435790 [GRCh38] Chr8:27293307 [GRCh37] Chr8:8p21.2 |
uncertain significance |
NM_173176.3(PTK2B):c.1599A>G (p.Ile533Met) | single nucleotide variant | Inborn genetic diseases [RCV002670000] | Chr8:27437836 [GRCh38] Chr8:27295353 [GRCh37] Chr8:8p21.2 |
uncertain significance |
NM_173176.3(PTK2B):c.2059A>C (p.Lys687Gln) | single nucleotide variant | Inborn genetic diseases [RCV002809644] | Chr8:27442894 [GRCh38] Chr8:27300411 [GRCh37] Chr8:8p21.2 |
uncertain significance |
NM_173176.3(PTK2B):c.755A>G (p.Asn252Ser) | single nucleotide variant | Inborn genetic diseases [RCV002855713] | Chr8:27430961 [GRCh38] Chr8:27288478 [GRCh37] Chr8:8p21.2 |
uncertain significance |
NM_171982.5(TRIM35):c.421G>A (p.Ala141Thr) | single nucleotide variant | Inborn genetic diseases [RCV003184443] | Chr8:27310815 [GRCh38] Chr8:27168332 [GRCh37] Chr8:8p21.2 |
uncertain significance |
NM_171982.5(TRIM35):c.157G>T (p.Val53Leu) | single nucleotide variant | Inborn genetic diseases [RCV003174292] | Chr8:27311079 [GRCh38] Chr8:27168596 [GRCh37] Chr8:8p21.2 |
uncertain significance |
NM_173176.3(PTK2B):c.62G>C (p.Gly21Ala) | single nucleotide variant | Inborn genetic diseases [RCV003194198] | Chr8:27397646 [GRCh38] Chr8:27255163 [GRCh37] Chr8:8p21.2 |
uncertain significance |
NM_173176.3(PTK2B):c.1837G>A (p.Val613Met) | single nucleotide variant | Inborn genetic diseases [RCV003194496] | Chr8:27440239 [GRCh38] Chr8:27297756 [GRCh37] Chr8:8p21.2 |
uncertain significance |
NM_173176.3(PTK2B):c.2647A>G (p.Asn883Asp) | single nucleotide variant | Inborn genetic diseases [RCV003210984] | Chr8:27454205 [GRCh38] Chr8:27311722 [GRCh37] Chr8:8p21.2 |
uncertain significance |
NM_173176.3(PTK2B):c.52C>T (p.Arg18Trp) | single nucleotide variant | Inborn genetic diseases [RCV003305138] | Chr8:27397636 [GRCh38] Chr8:27255153 [GRCh37] Chr8:8p21.2 |
uncertain significance |
NM_173176.3(PTK2B):c.908A>C (p.Lys303Thr) | single nucleotide variant | Inborn genetic diseases [RCV003309656] | Chr8:27432282 [GRCh38] Chr8:27289799 [GRCh37] Chr8:8p21.2 |
uncertain significance |
GRCh38/hg38 8p23.1-12(chr8:12721809-30183737)x1 | copy number loss | Microcephaly [RCV003327707] | Chr8:12721809..30183737 [GRCh38] Chr8:8p23.1-12 |
pathogenic |
NM_173176.3(PTK2B):c.50G>A (p.Arg17His) | single nucleotide variant | Inborn genetic diseases [RCV003347277] | Chr8:27397634 [GRCh38] Chr8:27255151 [GRCh37] Chr8:8p21.2 |
uncertain significance |
NM_173176.3(PTK2B):c.2906G>A (p.Ser969Asn) | single nucleotide variant | Inborn genetic diseases [RCV003375008] | Chr8:27458385 [GRCh38] Chr8:27315902 [GRCh37] Chr8:8p21.2 |
uncertain significance |
Single allele | duplication | not provided [RCV003448693] | Chr8:12530550..43483193 [GRCh37] Chr8:8p23.1-11.1 |
pathogenic |
GRCh37/hg19 8p22-11.1(chr8:14240573-43824035)x3 | copy number gain | not provided [RCV003484725] | Chr8:14240573..43824035 [GRCh37] Chr8:8p22-11.1 |
pathogenic |
GRCh37/hg19 8p23.2-11.21(chr8:2201405-41723095)x3 | copy number gain | not provided [RCV003484713] | Chr8:2201405..41723095 [GRCh37] Chr8:8p23.2-11.21 |
pathogenic |
GRCh37/hg19 8p23.1-11.23(chr8:11945856-37902453)x3 | copy number gain | not provided [RCV003484722] | Chr8:11945856..37902453 [GRCh37] Chr8:8p23.1-11.23 |
pathogenic |
GRCh37/hg19 8p23.1-11.22(chr8:12560782-38748763)x3 | copy number gain | not provided [RCV003484724] | Chr8:12560782..38748763 [GRCh37] Chr8:8p23.1-11.22 |
pathogenic |
GRCh37/hg19 8p23.1-21.1(chr8:12490999-28150620)x1 | copy number loss | not provided [RCV003483018] | Chr8:12490999..28150620 [GRCh37] Chr8:8p23.1-21.1 |
pathogenic |
NM_173176.3(PTK2B):c.2799A>G (p.Ser933=) | single nucleotide variant | not provided [RCV003436826] | Chr8:27454596 [GRCh38] Chr8:27312113 [GRCh37] Chr8:8p21.2 |
likely benign |
NM_173176.3(PTK2B):c.494G>A (p.Arg165His) | single nucleotide variant | not provided [RCV003436823] | Chr8:27422326 [GRCh38] Chr8:27279843 [GRCh37] Chr8:8p21.2 |
likely benign |
NM_173176.3(PTK2B):c.977G>T (p.Gly326Val) | single nucleotide variant | not provided [RCV003436824] | Chr8:27432351 [GRCh38] Chr8:27289868 [GRCh37] Chr8:8p21.2 |
uncertain significance |
NM_173176.3(PTK2B):c.2548C>T (p.Leu850=) | single nucleotide variant | not provided [RCV003436825] | Chr8:27451509 [GRCh38] Chr8:27309026 [GRCh37] Chr8:8p21.2 |
likely benign |
GRCh37/hg19 8p21.2-12(chr8:23754939-30219110)x1 | copy number loss | not specified [RCV003986748] | Chr8:23754939..30219110 [GRCh37] Chr8:8p21.2-12 |
pathogenic |
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 | copy number gain | not specified [RCV003986742] | Chr8:158048..146295771 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3 | copy number gain | not specified [RCV003986756] | Chr8:158048..41600696 [GRCh37] Chr8:8p23.3-11.21 |
pathogenic |
GRCh37/hg19 8p21.3-11.1(chr8:20136266-43786723)x3 | copy number gain | not specified [RCV003986767] | Chr8:20136266..43786723 [GRCh37] Chr8:8p21.3-11.1 |
pathogenic |
GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3 | copy number gain | not specified [RCV003986754] | Chr8:27024288..89410121 [GRCh37] Chr8:8p21.2-q21.3 |
pathogenic |
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. |
RH12429 |
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G59208 |
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SHGC-147423 |
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SHGC-154215 |
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RH69058 |
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HSC25C022 |
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D8S465 |
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PTK2B__5609 |
|
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 | pharyngeal arch | |
High | |||||||||||||||||
Medium | 1684 | 1900 | 1227 | 239 | 1924 | 83 | 3149 | 558 | 3092 | 206 | 1136 | 1450 | 165 | 1106 | 1915 | 2 | |
Low | 753 | 1082 | 494 | 384 | 26 | 381 | 1204 | 1633 | 624 | 213 | 312 | 157 | 7 | 98 | 873 | 2 | 2 |
Below cutoff | 2 | 5 | 1 | 1 | 3 | 3 | 14 | 9 | 5 | 1 | 1 |
RefSeq Transcripts | NG_029510 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_004103 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_173174 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_173175 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_173176 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_005273447 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_005273448 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011544441 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011544442 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017013214 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017013215 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017013216 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047421531 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047421532 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047421533 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047421534 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047421535 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047421536 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047421537 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047421538 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047421539 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047421540 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047421541 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047421542 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047421543 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047421544 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047421545 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047421546 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047421547 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047421548 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047421549 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047421550 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047421551 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047421552 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047421553 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047421555 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047421556 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047421557 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047421558 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047421559 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047421560 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047421561 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047421562 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047421563 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047421564 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054360052 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054360053 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054360054 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054360055 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054360056 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054360057 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054360058 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054360059 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054360060 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054360061 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054360062 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054360063 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054360064 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054360065 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054360066 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054360067 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054360068 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054360069 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054360070 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054360071 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054360072 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054360073 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054360074 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054360075 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054360076 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054360077 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054360078 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054360079 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054360080 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054360081 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054360082 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054360083 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054360084 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054360085 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054360086 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054360087 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054360088 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054360089 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054360090 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054360091 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AB209085 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AC010856 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AC124649 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF311103 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK128371 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL120380 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AW130888 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY429564 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC036651 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC042599 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BF796371 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BM712234 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BQ009032 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471080 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068270 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
D45853 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DA773624 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DQ590775 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KC877228 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KF458717 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KF458718 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
L49207 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
U33284 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
U43522 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENST00000346049 ⟹ ENSP00000332816 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000397497 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000397501 ⟹ ENSP00000380638 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000412793 ⟹ ENSP00000416174 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000420218 ⟹ ENSP00000391995 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000461615 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000482543 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000495097 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000496920 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000517339 ⟹ ENSP00000427931 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000519512 ⟹ ENSP00000428837 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000519650 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000521000 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000521164 ⟹ ENSP00000430404 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000522245 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000522338 ⟹ ENSP00000429694 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000522517 ⟹ ENSP00000428271 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | NM_004103 ⟹ NP_004094 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_173174 ⟹ NP_775266 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_173175 ⟹ NP_775267 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_173176 ⟹ NP_775268 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | XM_005273447 ⟹ XP_005273504 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | XM_011544441 ⟹ XP_011542743 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_011544442 ⟹ XP_011542744 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_017013214 ⟹ XP_016868703 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_017013215 ⟹ XP_016868704 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_017013216 ⟹ XP_016868705 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_047421531 ⟹ XP_047277487 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047421532 ⟹ XP_047277488 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047421533 ⟹ XP_047277489 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047421534 ⟹ XP_047277490 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047421535 ⟹ XP_047277491 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047421536 ⟹ XP_047277492 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047421537 ⟹ XP_047277493 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047421538 ⟹ XP_047277494 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047421539 ⟹ XP_047277495 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047421540 ⟹ XP_047277496 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047421541 ⟹ XP_047277497 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047421542 ⟹ XP_047277498 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047421543 ⟹ XP_047277499 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047421544 ⟹ XP_047277500 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047421545 ⟹ XP_047277501 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047421546 ⟹ XP_047277502 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047421547 ⟹ XP_047277503 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047421548 ⟹ XP_047277504 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047421549 ⟹ XP_047277505 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047421550 ⟹ XP_047277506 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047421551 ⟹ XP_047277507 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047421552 ⟹ XP_047277508 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047421553 ⟹ XP_047277509 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047421555 ⟹ XP_047277511 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047421556 ⟹ XP_047277512 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047421557 ⟹ XP_047277513 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047421558 ⟹ XP_047277514 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047421559 ⟹ XP_047277515 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047421560 ⟹ XP_047277516 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047421561 ⟹ XP_047277517 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047421562 ⟹ XP_047277518 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047421563 ⟹ XP_047277519 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047421564 ⟹ XP_047277520 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054360052 ⟹ XP_054216027 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054360053 ⟹ XP_054216028 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054360054 ⟹ XP_054216029 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054360055 ⟹ XP_054216030 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054360056 ⟹ XP_054216031 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054360057 ⟹ XP_054216032 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054360058 ⟹ XP_054216033 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054360059 ⟹ XP_054216034 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054360060 ⟹ XP_054216035 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054360061 ⟹ XP_054216036 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054360062 ⟹ XP_054216037 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054360063 ⟹ XP_054216038 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054360064 ⟹ XP_054216039 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054360065 ⟹ XP_054216040 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054360066 ⟹ XP_054216041 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054360067 ⟹ XP_054216042 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054360068 ⟹ XP_054216043 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054360069 ⟹ XP_054216044 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054360070 ⟹ XP_054216045 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054360071 ⟹ XP_054216046 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054360072 ⟹ XP_054216047 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054360073 ⟹ XP_054216048 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054360074 ⟹ XP_054216049 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054360075 ⟹ XP_054216050 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054360076 ⟹ XP_054216051 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054360077 ⟹ XP_054216052 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054360078 ⟹ XP_054216053 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054360079 ⟹ XP_054216054 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054360080 ⟹ XP_054216055 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054360081 ⟹ XP_054216056 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054360082 ⟹ XP_054216057 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054360083 ⟹ XP_054216058 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054360084 ⟹ XP_054216059 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054360085 ⟹ XP_054216060 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054360086 ⟹ XP_054216061 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054360087 ⟹ XP_054216062 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054360088 ⟹ XP_054216063 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054360089 ⟹ XP_054216064 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054360090 ⟹ XP_054216065 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054360091 ⟹ XP_054216066 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Protein RefSeqs | NP_004094 | (Get FASTA) | NCBI Sequence Viewer |
NP_775266 | (Get FASTA) | NCBI Sequence Viewer | |
NP_775267 | (Get FASTA) | NCBI Sequence Viewer | |
NP_775268 | (Get FASTA) | NCBI Sequence Viewer | |
XP_005273504 | (Get FASTA) | NCBI Sequence Viewer | |
XP_011542743 | (Get FASTA) | NCBI Sequence Viewer | |
XP_011542744 | (Get FASTA) | NCBI Sequence Viewer | |
XP_016868703 | (Get FASTA) | NCBI Sequence Viewer | |
XP_016868704 | (Get FASTA) | NCBI Sequence Viewer | |
XP_016868705 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047277487 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047277488 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047277489 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047277490 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047277491 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047277492 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047277493 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047277494 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047277495 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047277496 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047277497 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047277498 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047277499 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047277500 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047277501 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047277502 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047277503 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047277504 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047277505 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047277506 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047277507 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047277508 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047277509 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047277511 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047277512 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047277513 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047277514 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047277515 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047277516 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047277517 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047277518 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047277519 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047277520 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054216027 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054216028 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054216029 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054216030 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054216031 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054216032 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054216033 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054216034 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054216035 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054216036 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054216037 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054216038 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054216039 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054216040 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054216041 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054216042 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054216043 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054216044 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054216045 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054216046 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054216047 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054216048 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054216049 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054216050 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054216051 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054216052 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054216053 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054216054 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054216055 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054216056 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054216057 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054216058 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054216059 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054216060 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054216061 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054216062 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054216063 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054216064 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054216065 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054216066 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAB47217 | (Get FASTA) | NCBI Sequence Viewer |
AAC05330 | (Get FASTA) | NCBI Sequence Viewer | |
AAC50203 | (Get FASTA) | NCBI Sequence Viewer | |
AAH36651 | (Get FASTA) | NCBI Sequence Viewer | |
AAH42599 | (Get FASTA) | NCBI Sequence Viewer | |
BAA08289 | (Get FASTA) | NCBI Sequence Viewer | |
BAC87404 | (Get FASTA) | NCBI Sequence Viewer | |
BAD92322 | (Get FASTA) | NCBI Sequence Viewer | |
EAW63553 | (Get FASTA) | NCBI Sequence Viewer | |
EAW63554 | (Get FASTA) | NCBI Sequence Viewer | |
EAW63555 | (Get FASTA) | NCBI Sequence Viewer | |
EAW63556 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000332816 | ||
ENSP00000332816.6 | |||
ENSP00000380638 | |||
ENSP00000380638.1 | |||
ENSP00000391995 | |||
ENSP00000391995.2 | |||
ENSP00000416174.1 | |||
ENSP00000427931 | |||
ENSP00000427931.1 | |||
ENSP00000428271.1 | |||
ENSP00000428837.1 | |||
ENSP00000429694.1 | |||
ENSP00000430404.1 | |||
GenBank Protein | Q14289 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_775266 ⟸ NM_173174 |
- Peptide Label: | isoform a |
- UniProtKB: | Q16709 (UniProtKB/Swiss-Prot), Q14290 (UniProtKB/Swiss-Prot), Q13475 (UniProtKB/Swiss-Prot), D3DST0 (UniProtKB/Swiss-Prot), Q6PID4 (UniProtKB/Swiss-Prot), Q14289 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_004094 ⟸ NM_004103 |
- Peptide Label: | isoform a |
- UniProtKB: | Q16709 (UniProtKB/Swiss-Prot), Q14290 (UniProtKB/Swiss-Prot), Q13475 (UniProtKB/Swiss-Prot), D3DST0 (UniProtKB/Swiss-Prot), Q6PID4 (UniProtKB/Swiss-Prot), Q14289 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_775268 ⟸ NM_173176 |
- Peptide Label: | isoform a |
- UniProtKB: | Q16709 (UniProtKB/Swiss-Prot), Q14290 (UniProtKB/Swiss-Prot), Q13475 (UniProtKB/Swiss-Prot), D3DST0 (UniProtKB/Swiss-Prot), Q6PID4 (UniProtKB/Swiss-Prot), Q14289 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_775267 ⟸ NM_173175 |
- Peptide Label: | isoform b |
- UniProtKB: | Q14289 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_005273504 ⟸ XM_005273447 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q16709 (UniProtKB/Swiss-Prot), Q14290 (UniProtKB/Swiss-Prot), Q13475 (UniProtKB/Swiss-Prot), D3DST0 (UniProtKB/Swiss-Prot), Q6PID4 (UniProtKB/Swiss-Prot), Q14289 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_011542744 ⟸ XM_011544442 |
- Peptide Label: | isoform X3 |
- Sequence: |
RefSeq Acc Id: | XP_011542743 ⟸ XM_011544441 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q16709 (UniProtKB/Swiss-Prot), Q14290 (UniProtKB/Swiss-Prot), Q13475 (UniProtKB/Swiss-Prot), D3DST0 (UniProtKB/Swiss-Prot), Q6PID4 (UniProtKB/Swiss-Prot), Q14289 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_016868703 ⟸ XM_017013214 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q16709 (UniProtKB/Swiss-Prot), Q14290 (UniProtKB/Swiss-Prot), Q13475 (UniProtKB/Swiss-Prot), D3DST0 (UniProtKB/Swiss-Prot), Q6PID4 (UniProtKB/Swiss-Prot), Q14289 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_016868705 ⟸ XM_017013216 |
- Peptide Label: | isoform X4 |
- Sequence: |
RefSeq Acc Id: | XP_016868704 ⟸ XM_017013215 |
- Peptide Label: | isoform X3 |
- Sequence: |
RefSeq Acc Id: | ENSP00000427931 ⟸ ENST00000517339 |
RefSeq Acc Id: | ENSP00000332816 ⟸ ENST00000346049 |
RefSeq Acc Id: | ENSP00000428837 ⟸ ENST00000519512 |
RefSeq Acc Id: | ENSP00000416174 ⟸ ENST00000412793 |
RefSeq Acc Id: | ENSP00000430404 ⟸ ENST00000521164 |
RefSeq Acc Id: | ENSP00000428271 ⟸ ENST00000522517 |
RefSeq Acc Id: | ENSP00000429694 ⟸ ENST00000522338 |
RefSeq Acc Id: | ENSP00000391995 ⟸ ENST00000420218 |
RefSeq Acc Id: | ENSP00000380638 ⟸ ENST00000397501 |
RefSeq Acc Id: | XP_047277500 ⟸ XM_047421544 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q16709 (UniProtKB/Swiss-Prot), Q14290 (UniProtKB/Swiss-Prot), Q14289 (UniProtKB/Swiss-Prot), Q13475 (UniProtKB/Swiss-Prot), D3DST0 (UniProtKB/Swiss-Prot), Q6PID4 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | XP_047277501 ⟸ XM_047421545 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q16709 (UniProtKB/Swiss-Prot), Q14290 (UniProtKB/Swiss-Prot), Q14289 (UniProtKB/Swiss-Prot), Q13475 (UniProtKB/Swiss-Prot), D3DST0 (UniProtKB/Swiss-Prot), Q6PID4 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | XP_047277508 ⟸ XM_047421552 |
- Peptide Label: | isoform X3 |
RefSeq Acc Id: | XP_047277499 ⟸ XM_047421543 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q16709 (UniProtKB/Swiss-Prot), Q14290 (UniProtKB/Swiss-Prot), Q14289 (UniProtKB/Swiss-Prot), Q13475 (UniProtKB/Swiss-Prot), D3DST0 (UniProtKB/Swiss-Prot), Q6PID4 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | XP_047277488 ⟸ XM_047421532 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q16709 (UniProtKB/Swiss-Prot), Q14290 (UniProtKB/Swiss-Prot), Q14289 (UniProtKB/Swiss-Prot), Q13475 (UniProtKB/Swiss-Prot), D3DST0 (UniProtKB/Swiss-Prot), Q6PID4 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | XP_047277489 ⟸ XM_047421533 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q16709 (UniProtKB/Swiss-Prot), Q14290 (UniProtKB/Swiss-Prot), Q14289 (UniProtKB/Swiss-Prot), Q13475 (UniProtKB/Swiss-Prot), D3DST0 (UniProtKB/Swiss-Prot), Q6PID4 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | XP_047277513 ⟸ XM_047421557 |
- Peptide Label: | isoform X5 |
RefSeq Acc Id: | XP_047277495 ⟸ XM_047421539 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q16709 (UniProtKB/Swiss-Prot), Q14290 (UniProtKB/Swiss-Prot), Q14289 (UniProtKB/Swiss-Prot), Q13475 (UniProtKB/Swiss-Prot), D3DST0 (UniProtKB/Swiss-Prot), Q6PID4 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | XP_047277493 ⟸ XM_047421537 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q16709 (UniProtKB/Swiss-Prot), Q14290 (UniProtKB/Swiss-Prot), Q14289 (UniProtKB/Swiss-Prot), Q13475 (UniProtKB/Swiss-Prot), D3DST0 (UniProtKB/Swiss-Prot), Q6PID4 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | XP_047277494 ⟸ XM_047421538 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q16709 (UniProtKB/Swiss-Prot), Q14290 (UniProtKB/Swiss-Prot), Q14289 (UniProtKB/Swiss-Prot), Q13475 (UniProtKB/Swiss-Prot), D3DST0 (UniProtKB/Swiss-Prot), Q6PID4 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | XP_047277507 ⟸ XM_047421551 |
- Peptide Label: | isoform X3 |
RefSeq Acc Id: | XP_047277503 ⟸ XM_047421547 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_047277511 ⟸ XM_047421555 |
- Peptide Label: | isoform X5 |
RefSeq Acc Id: | XP_047277505 ⟸ XM_047421549 |
- Peptide Label: | isoform X3 |
RefSeq Acc Id: | XP_047277519 ⟸ XM_047421563 |
- Peptide Label: | isoform X7 |
RefSeq Acc Id: | XP_047277487 ⟸ XM_047421531 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q16709 (UniProtKB/Swiss-Prot), Q14290 (UniProtKB/Swiss-Prot), Q14289 (UniProtKB/Swiss-Prot), Q13475 (UniProtKB/Swiss-Prot), D3DST0 (UniProtKB/Swiss-Prot), Q6PID4 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | XP_047277504 ⟸ XM_047421548 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_047277512 ⟸ XM_047421556 |
- Peptide Label: | isoform X5 |
RefSeq Acc Id: | XP_047277502 ⟸ XM_047421546 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q16709 (UniProtKB/Swiss-Prot), Q14290 (UniProtKB/Swiss-Prot), Q14289 (UniProtKB/Swiss-Prot), Q13475 (UniProtKB/Swiss-Prot), D3DST0 (UniProtKB/Swiss-Prot), Q6PID4 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | XP_047277492 ⟸ XM_047421536 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q16709 (UniProtKB/Swiss-Prot), Q14290 (UniProtKB/Swiss-Prot), Q14289 (UniProtKB/Swiss-Prot), Q13475 (UniProtKB/Swiss-Prot), D3DST0 (UniProtKB/Swiss-Prot), Q6PID4 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | XP_047277506 ⟸ XM_047421550 |
- Peptide Label: | isoform X3 |
RefSeq Acc Id: | XP_047277491 ⟸ XM_047421535 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q16709 (UniProtKB/Swiss-Prot), Q14290 (UniProtKB/Swiss-Prot), Q14289 (UniProtKB/Swiss-Prot), Q13475 (UniProtKB/Swiss-Prot), D3DST0 (UniProtKB/Swiss-Prot), Q6PID4 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | XP_047277514 ⟸ XM_047421558 |
- Peptide Label: | isoform X5 |
RefSeq Acc Id: | XP_047277490 ⟸ XM_047421534 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q16709 (UniProtKB/Swiss-Prot), Q14290 (UniProtKB/Swiss-Prot), Q14289 (UniProtKB/Swiss-Prot), Q13475 (UniProtKB/Swiss-Prot), D3DST0 (UniProtKB/Swiss-Prot), Q6PID4 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | XP_047277496 ⟸ XM_047421540 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q16709 (UniProtKB/Swiss-Prot), Q14290 (UniProtKB/Swiss-Prot), Q14289 (UniProtKB/Swiss-Prot), Q13475 (UniProtKB/Swiss-Prot), D3DST0 (UniProtKB/Swiss-Prot), Q6PID4 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | XP_047277517 ⟸ XM_047421561 |
- Peptide Label: | isoform X5 |
RefSeq Acc Id: | XP_047277497 ⟸ XM_047421541 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q16709 (UniProtKB/Swiss-Prot), Q14290 (UniProtKB/Swiss-Prot), Q14289 (UniProtKB/Swiss-Prot), Q13475 (UniProtKB/Swiss-Prot), D3DST0 (UniProtKB/Swiss-Prot), Q6PID4 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | XP_047277516 ⟸ XM_047421560 |
- Peptide Label: | isoform X5 |
RefSeq Acc Id: | XP_047277515 ⟸ XM_047421559 |
- Peptide Label: | isoform X5 |
RefSeq Acc Id: | XP_047277518 ⟸ XM_047421562 |
- Peptide Label: | isoform X6 |
RefSeq Acc Id: | XP_047277509 ⟸ XM_047421553 |
- Peptide Label: | isoform X3 |
RefSeq Acc Id: | XP_047277520 ⟸ XM_047421564 |
- Peptide Label: | isoform X7 |
RefSeq Acc Id: | XP_047277498 ⟸ XM_047421542 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q16709 (UniProtKB/Swiss-Prot), Q14290 (UniProtKB/Swiss-Prot), Q14289 (UniProtKB/Swiss-Prot), Q13475 (UniProtKB/Swiss-Prot), D3DST0 (UniProtKB/Swiss-Prot), Q6PID4 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | XP_054216043 ⟸ XM_054360068 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_054216044 ⟸ XM_054360069 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_054216052 ⟸ XM_054360077 |
- Peptide Label: | isoform X3 |
RefSeq Acc Id: | XP_054216028 ⟸ XM_054360053 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_054216059 ⟸ XM_054360084 |
- Peptide Label: | isoform X5 |
RefSeq Acc Id: | XP_054216035 ⟸ XM_054360060 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_054216033 ⟸ XM_054360058 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_054216034 ⟸ XM_054360059 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_054216051 ⟸ XM_054360076 |
- Peptide Label: | isoform X3 |
RefSeq Acc Id: | XP_054216046 ⟸ XM_054360071 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_054216057 ⟸ XM_054360082 |
- Peptide Label: | isoform X5 |
RefSeq Acc Id: | XP_054216048 ⟸ XM_054360073 |
- Peptide Label: | isoform X3 |
RefSeq Acc Id: | XP_054216065 ⟸ XM_054360090 |
- Peptide Label: | isoform X7 |
RefSeq Acc Id: | XP_054216027 ⟸ XM_054360052 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_054216047 ⟸ XM_054360072 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_054216058 ⟸ XM_054360083 |
- Peptide Label: | isoform X5 |
RefSeq Acc Id: | XP_054216049 ⟸ XM_054360074 |
- Peptide Label: | isoform X3 |
RefSeq Acc Id: | XP_054216055 ⟸ XM_054360080 |
- Peptide Label: | isoform X4 |
RefSeq Acc Id: | XP_054216045 ⟸ XM_054360070 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_054216032 ⟸ XM_054360057 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_054216050 ⟸ XM_054360075 |
- Peptide Label: | isoform X3 |
RefSeq Acc Id: | XP_054216031 ⟸ XM_054360056 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_054216060 ⟸ XM_054360085 |
- Peptide Label: | isoform X5 |
RefSeq Acc Id: | XP_054216030 ⟸ XM_054360055 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_054216036 ⟸ XM_054360061 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_054216042 ⟸ XM_054360067 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_054216029 ⟸ XM_054360054 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_054216037 ⟸ XM_054360062 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_054216056 ⟸ XM_054360081 |
- Peptide Label: | isoform X4 |
RefSeq Acc Id: | XP_054216039 ⟸ XM_054360064 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_054216053 ⟸ XM_054360078 |
- Peptide Label: | isoform X3 |
RefSeq Acc Id: | XP_054216063 ⟸ XM_054360088 |
- Peptide Label: | isoform X5 |
RefSeq Acc Id: | XP_054216061 ⟸ XM_054360086 |
- Peptide Label: | isoform X5 |
RefSeq Acc Id: | XP_054216054 ⟸ XM_054360079 |
- Peptide Label: | isoform X3 |
RefSeq Acc Id: | XP_054216064 ⟸ XM_054360089 |
- Peptide Label: | isoform X6 |
RefSeq Acc Id: | XP_054216040 ⟸ XM_054360065 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_054216066 ⟸ XM_054360091 |
- Peptide Label: | isoform X7 |
RefSeq Acc Id: | XP_054216038 ⟸ XM_054360063 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_054216062 ⟸ XM_054360087 |
- Peptide Label: | isoform X5 |
RefSeq Acc Id: | XP_054216041 ⟸ XM_054360066 |
- Peptide Label: | isoform X1 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q14289-F1-model_v2 | AlphaFold | Q14289 | 1-1009 | view protein structure |
RGD ID: | 6807099 | ||||||||
Promoter ID: | HG_KWN:60986 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, K562, Lymphoblastoid, NB4 | ||||||||
Transcripts: | ENST00000338238, ENST00000380544, NM_004103, NM_171982, NM_173174, UC003XFM.1, UC010LUP.1 | ||||||||
Position: |
|
RGD ID: | 6806963 | ||||||||
Promoter ID: | HG_KWN:60987 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, K562, Lymphoblastoid, NB4 | ||||||||
Transcripts: | NM_173175, NM_173176 | ||||||||
Position: |
|
RGD ID: | 6813486 | ||||||||
Promoter ID: | HG_ACW:76377 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour, K562, Lymphoblastoid, NB4 | ||||||||
Transcripts: | PTK2B.GAPR07 | ||||||||
Position: |
|
RGD ID: | 6806968 | ||||||||
Promoter ID: | HG_KWN:60989 | ||||||||
Type: | Non-CpG | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell, K562, Lymphoblastoid | ||||||||
Transcripts: | OTTHUMT00000259141, OTTHUMT00000259142 | ||||||||
Position: |
|
RGD ID: | 7212937 | ||||||||
Promoter ID: | EPDNEW_H12214 | ||||||||
Type: | initiation region | ||||||||
Name: | PTK2B_3 | ||||||||
Description: | protein tyrosine kinase 2 beta | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H12218 EPDNEW_H12219 | ||||||||
Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | ||||||||
Position: |
|
RGD ID: | 7212945 | ||||||||
Promoter ID: | EPDNEW_H12218 | ||||||||
Type: | initiation region | ||||||||
Name: | PTK2B_2 | ||||||||
Description: | protein tyrosine kinase 2 beta | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H12214 EPDNEW_H12219 | ||||||||
Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | ||||||||
Position: |
|
RGD ID: | 7212947 | ||||||||
Promoter ID: | EPDNEW_H12219 | ||||||||
Type: | initiation region | ||||||||
Name: | PTK2B_1 | ||||||||
Description: | protein tyrosine kinase 2 beta | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H12214 EPDNEW_H12218 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
RGD ID: | 6806970 | ||||||||
Promoter ID: | HG_KWN:60990 | ||||||||
Type: | Non-CpG | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | Lymphoblastoid | ||||||||
Transcripts: | ENST00000397497, UC003XFR.1, UC010LUQ.1 | ||||||||
Position: |
|
RGD ID: | 6806967 | ||||||||
Promoter ID: | HG_KWN:60991 | ||||||||
Type: | Non-CpG | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | K562, Lymphoblastoid | ||||||||
Transcripts: | OTTHUMT00000259140 | ||||||||
Position: |
|
RGD ID: | 6806966 | ||||||||
Promoter ID: | HG_KWN:60992 | ||||||||
Type: | Non-CpG | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | K562, Lymphoblastoid | ||||||||
Transcripts: | OTTHUMT00000259139 | ||||||||
Position: |
|
RGD ID: | 6806969 | ||||||||
Promoter ID: | HG_KWN:60993 | ||||||||
Type: | Non-CpG | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | K562, Lymphoblastoid | ||||||||
Transcripts: | UC003XFS.1 | ||||||||
Position: |
|
RGD ID: | 6806965 | ||||||||
Promoter ID: | HG_KWN:60994 | ||||||||
Type: | Non-CpG | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | K562, Lymphoblastoid | ||||||||
Transcripts: | OTTHUMT00000259138 | ||||||||
Position: |
|
Database | Acc Id | Source(s) |
AGR Gene | HGNC:9612 | AgrOrtholog |
COSMIC | PTK2B | COSMIC |
Ensembl Genes | ENSG00000120899 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENST00000346049 | ENTREZGENE |
ENST00000346049.10 | UniProtKB/Swiss-Prot | |
ENST00000397501 | ENTREZGENE | |
ENST00000397501.5 | UniProtKB/Swiss-Prot | |
ENST00000412793.5 | UniProtKB/TrEMBL | |
ENST00000420218 | ENTREZGENE | |
ENST00000420218.3 | UniProtKB/Swiss-Prot | |
ENST00000517339 | ENTREZGENE | |
ENST00000517339.5 | UniProtKB/Swiss-Prot | |
ENST00000519512.5 | UniProtKB/TrEMBL | |
ENST00000521164.5 | UniProtKB/TrEMBL | |
ENST00000522338.5 | UniProtKB/TrEMBL | |
ENST00000522517.5 | UniProtKB/TrEMBL | |
Gene3D-CATH | 1.20.80.10 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
2.30.29.30 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Nucleotidyltransferases domain 2 | UniProtKB/Swiss-Prot | |
Transferase(Phosphotransferase) domain 1 | UniProtKB/Swiss-Prot | |
GTEx | ENSG00000120899 | GTEx |
HGNC ID | HGNC:9612 | ENTREZGENE |
Human Proteome Map | PTK2B | Human Proteome Map |
InterPro | Band_41_domain | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
FADK_N | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
FAK1-like_FERM_C | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
FAK1/PYK2_FERM_C | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
FERM/acyl-CoA-bd_prot_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
FERM_2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
FERM_central | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
FERM_domain | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Focal_adhe_kin_target_dom_sf | UniProtKB/Swiss-Prot | |
Focal_adhesion_kin_target_dom | UniProtKB/Swiss-Prot | |
Kinase-like_dom_sf | UniProtKB/Swiss-Prot | |
PH-like_dom_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Prot_kinase_dom | UniProtKB/Swiss-Prot | |
Protein_kinase_ATP_BS | UniProtKB/Swiss-Prot | |
Ser-Thr/Tyr_kinase_cat_dom | UniProtKB/Swiss-Prot | |
Tyr_kinase_AS | UniProtKB/Swiss-Prot | |
Tyr_kinase_cat_dom | UniProtKB/Swiss-Prot | |
Ubiquitin-like_domsf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | hsa:2185 | UniProtKB/Swiss-Prot |
NCBI Gene | 2185 | ENTREZGENE |
OMIM | 601212 | OMIM |
PANTHER | FERM AND PDZ DOMAIN-CONTAINING PROTEIN FAMILY MEMBER | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
NON-SPECIFIC PROTEIN-TYROSINE KINASE | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | FERM_C_FAK1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
FERM_M | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
FERM_N_2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Focal_AT | UniProtKB/Swiss-Prot | |
Pkinase_Tyr | UniProtKB/Swiss-Prot | |
PharmGKB | PA33956 | PharmGKB |
PRINTS | TYRKINASE | UniProtKB/Swiss-Prot |
PROSITE | FERM_3 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PROTEIN_KINASE_ATP | UniProtKB/Swiss-Prot | |
PROTEIN_KINASE_DOM | UniProtKB/Swiss-Prot | |
PROTEIN_KINASE_TYR | UniProtKB/Swiss-Prot | |
SMART | B41 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
TyrKc | UniProtKB/Swiss-Prot | |
Superfamily-SCOP | PH domain-like | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
SSF47031 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SSF54236 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SSF56112 | UniProtKB/Swiss-Prot | |
SSF68993 | UniProtKB/Swiss-Prot | |
UniProt | C9JHV9_HUMAN | UniProtKB/TrEMBL |
D3DST0 | ENTREZGENE | |
E5RHL2_HUMAN | UniProtKB/TrEMBL | |
E5RJ77_HUMAN | UniProtKB/TrEMBL | |
E5RK84_HUMAN | UniProtKB/TrEMBL | |
FAK2_HUMAN | UniProtKB/Swiss-Prot | |
H0YB74_HUMAN | UniProtKB/TrEMBL | |
Q13475 | ENTREZGENE | |
Q14289 | ENTREZGENE | |
Q14290 | ENTREZGENE | |
Q16709 | ENTREZGENE | |
Q6PID4 | ENTREZGENE | |
UniProt Secondary | D3DST0 | UniProtKB/Swiss-Prot |
Q13475 | UniProtKB/Swiss-Prot | |
Q14290 | UniProtKB/Swiss-Prot | |
Q16709 | UniProtKB/Swiss-Prot | |
Q6PID4 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2013-03-12 | PTK2B | protein tyrosine kinase 2 beta | PTK2B | PTK2B protein tyrosine kinase 2 beta | Symbol and/or name change | 5135510 | APPROVED |