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Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Cohen syndrome | | IAGP | RGD:151863156 | 8554872 | ClinVar Annotator: match by term: Cohen syndrome | ClinVar | PMID:28492532 | |
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Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Cohen syndrome | | IAGP | RGD:151863156 | 8554872 | ClinVar Annotator: match by term: Cohen syndrome | ClinVar | PMID:28492532 | |
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# | Reference Title | Reference Citation |
1. | miR-22 targets YWHAZ to inhibit metastasis of hepatocellular carcinoma and its down-regulation predicts a poor survival. | Chen M, etal., Oncotarget. 2016 Dec 6;7(49):80751-80764. doi: 10.18632/oncotarget.13037. |
2. | Changes in intracellular protein expression in cortex, thalamus and hippocampus in a genetic rat model of absence epilepsy. | Danis O, etal., Brain Res Bull. 2011 Apr 5;84(6):381-8. doi: 10.1016/j.brainresbull.2011.02.002. Epub 2011 Feb 15. |
3. | 14-3-3 proteins within the hypothalamic-neurohypophyseal system of the osmotically stressed rat: transcriptomic and proteomic studies. | Gouraud SS, etal., J Neuroendocrinol. 2007 Nov;19(11):913-22. |
4. | Proteomic response to acupuncture treatment in spontaneously hypertensive rats. | Lai X, etal., PLoS One. 2012;7(9):e44216. doi: 10.1371/journal.pone.0044216. Epub 2012 Sep 12. |
5. | Readout of epigenetic modifications. | Patel DJ and Wang Z, Annu Rev Biochem. 2013;82:81-118. doi: 10.1146/annurev-biochem-072711-165700. |
6. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
7. | PID Annotation Import Pipeline | Pipeline to import Pathway Interaction Database annotations from NCI into RGD |
8. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
9. | Isoform- and subcellular fraction-specific differences in hippocampal 14-3-3 levels following experimentally evoked seizures and in human temporal lobe epilepsy. | Schindler CK, etal., J Neurochem. 2006 Oct;99(2):561-9. Epub 2006 Sep 18. |
PMID:1577711 | PMID:7536343 | PMID:7547034 | PMID:7559537 | PMID:7603574 | PMID:7628630 | PMID:7890696 | PMID:7935795 | PMID:7939632 | PMID:7939633 | PMID:8024705 | PMID:8034572 |
PMID:8037685 | PMID:8085158 | PMID:8101440 | PMID:8278375 | PMID:8601312 | PMID:8617504 | PMID:8619474 | PMID:8631758 | PMID:8668348 | PMID:8702721 | PMID:9092538 | PMID:9110174 |
PMID:9115393 | PMID:9144171 | PMID:9153224 | PMID:9197417 | PMID:9261098 | PMID:9299557 | PMID:9312143 | PMID:9360956 | PMID:9367879 | PMID:9398266 | PMID:9425086 | PMID:9428519 |
PMID:9452471 | PMID:9454760 | PMID:9512661 | PMID:9524113 | PMID:9543386 | PMID:9581554 | PMID:9620776 | PMID:9632690 | PMID:9705322 | PMID:9858547 | PMID:10026197 | PMID:10102273 |
PMID:10224112 | PMID:10358015 | PMID:10407019 | PMID:10411906 | PMID:10441394 | PMID:10455159 | PMID:10477722 | PMID:10488331 | PMID:10559254 | PMID:10611249 | PMID:10620507 | PMID:10627461 |
PMID:10642536 | PMID:10644344 | PMID:10681541 | PMID:10713667 | PMID:10785390 | PMID:10835362 | PMID:10840038 | PMID:10864927 | PMID:10887121 | PMID:10887173 | PMID:11124266 | PMID:11178869 |
PMID:11237865 | PMID:11257119 | PMID:11287646 | PMID:11331285 | PMID:11336675 | PMID:11359875 | PMID:11410287 | PMID:11427721 | PMID:11486037 | PMID:11504882 | PMID:11526496 | PMID:11531413 |
PMID:11533041 | PMID:11563969 | PMID:11697890 | PMID:11700305 | PMID:11723239 | PMID:11864996 | PMID:11912194 | PMID:11912208 | PMID:11917136 | PMID:11950841 | PMID:11956222 | PMID:11984006 |
PMID:11985497 | PMID:12176984 | PMID:12176995 | PMID:12215538 | PMID:12323073 | PMID:12361576 | PMID:12364343 | PMID:12383250 | PMID:12433946 | PMID:12438239 | PMID:12468542 | PMID:12477932 |
PMID:12551948 | PMID:12589811 | PMID:12615066 | PMID:12665801 | PMID:12757707 | PMID:12764136 | PMID:12766774 | PMID:12819209 | PMID:12853467 | PMID:12861023 | PMID:12893243 | PMID:12919677 |
PMID:12944463 | PMID:12963375 | PMID:14505491 | PMID:14676191 | PMID:14688280 | PMID:14690436 | PMID:14702098 | PMID:14743216 | PMID:14970201 | PMID:15003508 | PMID:15023544 | PMID:15028637 |
PMID:15032605 | PMID:15036595 | PMID:15037601 | PMID:15054037 | PMID:15057270 | PMID:15073173 | PMID:15142377 | PMID:15146197 | PMID:15159416 | PMID:15161933 | PMID:15163635 | PMID:15225635 |
PMID:15229649 | PMID:15234461 | PMID:15265780 | PMID:15314064 | PMID:15324659 | PMID:15324660 | PMID:15347690 | PMID:15363479 | PMID:15364926 | PMID:15389569 | PMID:15489334 | PMID:15492215 |
PMID:15616007 | PMID:15629715 | PMID:15650334 | PMID:15657067 | PMID:15660133 | PMID:15664191 | PMID:15696159 | PMID:15708996 | PMID:15721295 | PMID:15778465 | PMID:15791647 | PMID:15883043 |
PMID:15964851 | PMID:16027165 | PMID:16041367 | PMID:16045749 | PMID:16093354 | PMID:16114898 | PMID:16123035 | PMID:16130169 | PMID:16169070 | PMID:16223362 | PMID:16226712 | PMID:16246723 |
PMID:16306228 | PMID:16341674 | PMID:16368544 | PMID:16376338 | PMID:16413928 | PMID:16420525 | PMID:16449798 | PMID:16502470 | PMID:16511560 | PMID:16516142 | PMID:16581770 | PMID:16636147 |
PMID:16672277 | PMID:16679322 | PMID:16868027 | PMID:16888623 | PMID:16959763 | PMID:16968670 | PMID:16968750 | PMID:17008717 | PMID:17043677 | PMID:17081065 | PMID:17081983 | PMID:17166838 |
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PMID:17720156 | PMID:17764575 | PMID:17918986 | PMID:17979178 | PMID:18029012 | PMID:18039662 | PMID:18078716 | PMID:18160415 | PMID:18162532 | PMID:18290843 | PMID:18299448 | PMID:18319590 |
PMID:18356162 | PMID:18418070 | PMID:18458160 | PMID:18472156 | PMID:18559254 | PMID:18573912 | PMID:18618111 | PMID:18647389 | PMID:18779327 | PMID:18951430 | PMID:19034380 | PMID:19049963 |
PMID:19056867 | PMID:19062179 | PMID:19135240 | PMID:19138662 | PMID:19172738 | PMID:19173300 | PMID:19184136 | PMID:19190083 | PMID:19198587 | PMID:19199708 | PMID:19218246 | PMID:19338310 |
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PMID:19738201 | PMID:19766566 | PMID:19860830 | PMID:19875727 | PMID:19933840 | PMID:19940019 | PMID:20000738 | PMID:20012529 | PMID:20037628 | PMID:20052757 | PMID:20129940 | PMID:20224040 |
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PMID:20642453 | PMID:20679480 | PMID:20843328 | PMID:20885446 | PMID:20936779 | PMID:21028892 | PMID:21076048 | PMID:21081103 | PMID:21081150 | PMID:21081666 | PMID:21118500 | PMID:21145461 |
PMID:21145499 | PMID:21182262 | PMID:21209461 | PMID:21242845 | PMID:21282530 | PMID:21302295 | PMID:21319273 | PMID:21334806 | PMID:21423176 | PMID:21533173 | PMID:21554249 | PMID:21621563 |
PMID:21630459 | PMID:21706016 | PMID:21707964 | PMID:21743495 | PMID:21800051 | PMID:21832049 | PMID:21873635 | PMID:21900206 | PMID:21903422 | PMID:21965683 | PMID:21978388 | PMID:21988832 |
PMID:22001647 | PMID:22010828 | PMID:22069327 | PMID:22072711 | PMID:22124272 | PMID:22190034 | PMID:22222486 | PMID:22268729 | PMID:22279540 | PMID:22450169 | PMID:22450747 | PMID:22516433 |
PMID:22575644 | PMID:22580824 | PMID:22588126 | PMID:22623428 | PMID:22653443 | PMID:22658674 | PMID:22754302 | PMID:22794279 | PMID:22808202 | PMID:22863883 | PMID:22865885 | PMID:22904106 |
PMID:22912335 | PMID:22922483 | PMID:22939629 | PMID:22948661 | PMID:22952844 | PMID:22989890 | PMID:22990118 | PMID:23075850 | PMID:23125841 | PMID:23175360 | PMID:23269842 | PMID:23271328 |
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PMID:23999528 | PMID:24043626 | PMID:24114522 | PMID:24129571 | PMID:24189400 | PMID:24255178 | PMID:24269678 | PMID:24282540 | PMID:24351927 | PMID:24367683 | PMID:24510904 | PMID:24550385 |
PMID:24603438 | PMID:24658140 | PMID:24687993 | PMID:24708873 | PMID:24711643 | PMID:24804299 | PMID:24812321 | PMID:24947832 | PMID:24956593 | PMID:24999758 | PMID:25036637 | PMID:25138042 |
PMID:25147182 | PMID:25154416 | PMID:25156059 | PMID:25189701 | PMID:25192599 | PMID:25226601 | PMID:25266655 | PMID:25277244 | PMID:25324306 | PMID:25330109 | PMID:25402006 | PMID:25412315 |
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PMID:25921289 | PMID:25940091 | PMID:25959826 | PMID:25963833 | PMID:25971962 | PMID:26186194 | PMID:26205494 | PMID:26217791 | PMID:26295714 | PMID:26318153 | PMID:26344197 | PMID:26375402 |
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PMID:27764807 | PMID:27880917 | PMID:27984090 | PMID:28202711 | PMID:28205554 | PMID:28302793 | PMID:28330616 | PMID:28368277 | PMID:28443643 | PMID:28514442 | PMID:28515276 | PMID:28522826 |
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PMID:31068674 | PMID:31091453 | PMID:31180492 | PMID:31199037 | PMID:31222857 | PMID:31240211 | PMID:31273033 | PMID:31298411 | PMID:31300519 | PMID:31396202 | PMID:31405213 | PMID:31409639 |
PMID:31413325 | PMID:31436131 | PMID:31519766 | PMID:31536960 | PMID:31586073 | PMID:31610265 | PMID:31620119 | PMID:31640760 | PMID:31665637 | PMID:31693753 | PMID:31709727 | PMID:31732153 |
PMID:31856438 | PMID:31871319 | PMID:31980649 | PMID:31988522 | PMID:31995728 | PMID:32108043 | PMID:32120844 | PMID:32129710 | PMID:32152128 | PMID:32236580 | PMID:32296183 | PMID:32457219 |
PMID:32509391 | PMID:32552912 | PMID:32597834 | PMID:32665550 | PMID:32685476 | PMID:32685532 | PMID:32687490 | PMID:32707033 | PMID:32807901 | PMID:32814053 | PMID:32814769 | PMID:32850835 |
PMID:32877691 | PMID:32905556 | PMID:32913128 | PMID:32929329 | PMID:32989225 | PMID:33022573 | PMID:33159816 | PMID:33194618 | PMID:33201331 | PMID:33222276 | PMID:33239621 | PMID:33254518 |
PMID:33306668 | PMID:33386589 | PMID:33416155 | PMID:33545068 | PMID:33644029 | PMID:33658012 | PMID:33729478 | PMID:33731348 | PMID:33761321 | PMID:33863777 | PMID:33875576 | PMID:33916271 |
PMID:33961781 | PMID:33999101 | PMID:34031189 | PMID:34079125 | PMID:34185411 | PMID:34294877 | PMID:34454032 | PMID:34560418 | PMID:34654719 | PMID:34674391 | PMID:34709727 | PMID:34728620 |
PMID:34757658 | PMID:34795231 | PMID:35006623 | PMID:35013218 | PMID:35078985 | PMID:35122331 | PMID:35134439 | PMID:35168653 | PMID:35213938 | PMID:35256949 | PMID:35271311 | PMID:35343654 |
PMID:35356984 | PMID:35387560 | PMID:35446349 | PMID:35457075 | PMID:35509820 | PMID:35545034 | PMID:35546148 | PMID:35562734 | PMID:35662396 | PMID:35676659 | PMID:35681168 | PMID:35831314 |
PMID:35831895 | PMID:35851744 | PMID:35876652 | PMID:35944360 | PMID:35993436 | PMID:36001342 | PMID:36042349 | PMID:36042481 | PMID:36055981 | PMID:36114006 | PMID:36199071 | PMID:36199425 |
PMID:36213322 | PMID:36215168 | PMID:36282215 |
YWHAZ (Homo sapiens - human) |
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Ywhaz (Mus musculus - house mouse) |
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Ywhaz (Rattus norvegicus - Norway rat) |
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Ywhaz (Chinchilla lanigera - long-tailed chinchilla) |
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YWHAZ (Pan paniscus - bonobo/pygmy chimpanzee) |
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YWHAZ (Canis lupus familiaris - dog) |
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Ywhaz (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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YWHAZ (Sus scrofa - pig) |
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YWHAZ (Chlorocebus sabaeus - green monkey) |
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Ywhaz (Heterocephalus glaber - naked mole-rat) |
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Variants in YWHAZ
18 total Variants ![]() |
Name | Type | Condition(s) | Position(s) | Clinical significance |
NM_145690.3(YWHAZ):c.689C>G (p.Ser230Trp) | single nucleotide variant | Reclassified - variant of unknown significance [RCV000778073]|See cases [RCV001197430]|not provided [RCV001089758]|not specified [RCV000517158] | Chr8:100920742 [GRCh38] Chr8:101932970 [GRCh37] Chr8:8q22.3 |
pathogenic|uncertain significance|not provided |
GRCh38/hg38 8q22.2-22.3(chr8:100023254-101190270)x3 | copy number gain | See cases [RCV000050759] | Chr8:100023254..101190270 [GRCh38] Chr8:101035482..102202498 [GRCh37] Chr8:101104658..102271674 [NCBI36] Chr8:8q22.2-22.3 |
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 8q22.1-24.3(chr8:95606052-145054775)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] | Chr8:95606052..145054775 [GRCh38] Chr8:96618280..146280161 [GRCh37] Chr8:96687456..146250965 [NCBI36] Chr8:8q22.1-24.3 |
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-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 8q22.1-24.3(chr8:94682154-145068656)x3 | copy number gain | See cases [RCV000134353] | Chr8:94682154..145068656 [GRCh38] Chr8:95694382..146294042 [GRCh37] Chr8:95763558..146264846 [NCBI36] Chr8:8q22.1-24.3 |
pathogenic |
GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3 | copy number gain | See cases [RCV000135621] | Chr8:86300584..137022587 [GRCh38] Chr8:87312813..138034830 [GRCh37] Chr8:87381929..138104012 [NCBI36] Chr8:8q21.3-24.23 |
pathogenic|likely pathogenic |
GRCh38/hg38 8q22.2-22.3(chr8:99580206-101547228)x1 | copy number loss | See cases [RCV000137322] | Chr8:99580206..101547228 [GRCh38] Chr8:100592434..102559456 [GRCh37] Chr8:100661610..102628632 [NCBI36] Chr8:8q22.2-22.3 |
likely pathogenic |
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 | copy number gain | See cases [RCV000138551] | Chr8:87931152..145068712 [GRCh38] Chr8:88943380..146294098 [GRCh37] Chr8:89012496..146264902 [NCBI36] Chr8:8q21.3-24.3 |
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 8q21.13-24.3(chr8:77480050-145068712)x3 | copy number gain | See cases [RCV000139036] | Chr8:77480050..145068712 [GRCh38] Chr8:78392286..146294098 [GRCh37] Chr8:78554841..146264902 [NCBI36] Chr8:8q21.13-24.3 |
pathogenic |
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 | copy number gain | See cases [RCV000140447] | Chr8:97382873..145070385 [GRCh38] Chr8:98395101..146295771 [GRCh37] Chr8:98464277..146266575 [NCBI36] Chr8:8q22.1-24.3 |
pathogenic |
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 | copy number gain | See cases [RCV000139539] | Chr8:46031340..139285494 [GRCh38] Chr8:46942962..140297737 [GRCh37] Chr8:47062127..140366919 [NCBI36] Chr8:8q11.1-24.3 |
pathogenic |
GRCh38/hg38 8q22.2-23.1(chr8:100179408-106524667)x1 | copy number loss | See cases [RCV000141697] | Chr8:100179408..106524667 [GRCh38] Chr8:101191636..107536895 [GRCh37] Chr8:101260812..107606071 [NCBI36] Chr8:8q22.2-23.1 |
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 8q22.3-24.3(chr8:100867343-145070385)x3 | copy number gain | See cases [RCV000141694] | Chr8:100867343..145070385 [GRCh38] Chr8:101879571..146295771 [GRCh37] Chr8:101948747..146266575 [NCBI36] Chr8:8q22.3-24.3 |
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 8q21.13-24.3(chr8:78614077-145054634)x3 | copy number gain | See cases [RCV000142597] | Chr8:78614077..145054634 [GRCh38] Chr8:79526312..146280020 [GRCh37] Chr8:79688867..146250824 [NCBI36] Chr8:8q21.13-24.3 |
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 8q21.2-24.3(chr8:85765999-145070385)x3 | copy number gain | See cases [RCV000143659] | Chr8:85765999..145070385 [GRCh38] Chr8:86778228..146295771 [GRCh37] Chr8:86863079..146266575 [NCBI36] Chr8:8q21.2-24.3 |
pathogenic |
GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2 | copy number gain | See cases [RCV002292707] | Chr8:68912432..146295771 [GRCh37] Chr8:8q13.2-24.3 |
pathogenic |
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 | copy number gain | not provided [RCV000848192] | Chr8:31936551..146295771 [GRCh37] Chr8:8p12-q24.3 |
pathogenic |
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 8q22.1-24.3(chr8:98432250-146222672)x4 | copy number gain | See cases [RCV000448954] | Chr8:98432250..146222672 [GRCh37] Chr8:8q22.1-24.3 |
pathogenic |
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 8q21.3-24.3(chr8:93047482-141355635)x3 | copy number gain | See cases [RCV000511761] | Chr8:93047482..141355635 [GRCh37] Chr8:8q21.3-24.3 |
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 |
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 | copy number gain | See cases [RCV000511002] | Chr8:86841154..146295771 [GRCh37] Chr8:8q21.2-24.3 |
pathogenic |
GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3 | copy number gain | See cases [RCV000510854] | Chr8:86841228..142689874 [GRCh37] Chr8:8q21.2-24.3 |
pathogenic |
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 8q21.2-23.3(chr8:86841154-116518125)x3 | copy number gain | not provided [RCV000683045] | Chr8:86841154..116518125 [GRCh37] Chr8:8q21.2-23.3 |
pathogenic |
GRCh37/hg19 8q22.2-22.3(chr8:100551211-103676738)x1 | copy number loss | not provided [RCV000683023] | Chr8:100551211..103676738 [GRCh37] Chr8:8q22.2-22.3 |
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 |
NM_145690.3(YWHAZ):c.615A>C (p.Thr205=) | single nucleotide variant | not provided [RCV000927973] | Chr8:100924018 [GRCh38] Chr8:101936246 [GRCh37] Chr8:8q22.3 |
likely benign |
NM_145690.3(YWHAZ):c.157G>A (p.Gly53Arg) | single nucleotide variant | Reclassified - variant of unknown significance [RCV000778074] | Chr8:100948733 [GRCh38] Chr8:101960961 [GRCh37] Chr8:8q22.3 |
pathogenic|uncertain significance |
NM_145690.3(YWHAZ):c.434C>T (p.Ser145Leu) | single nucleotide variant | Reclassified - variant of unknown significance [RCV000778075] | Chr8:100924283 [GRCh38] Chr8:101936511 [GRCh37] Chr8:8q22.3 |
pathogenic|uncertain significance |
NM_145690.3(YWHAZ):c.40G>T (p.Glu14Ter) | single nucleotide variant | Reclassified - variant of unknown significance [RCV000778076] | Chr8:100948850 [GRCh38] Chr8:101961078 [GRCh37] Chr8:8q22.3 |
pathogenic|uncertain significance |
NM_145690.3(YWHAZ):c.687_688dup (p.Ser230fs) | duplication | Reclassified - variant of unknown significance [RCV000778077] | Chr8:100920742..100920743 [GRCh38] Chr8:101932970..101932971 [GRCh37] Chr8:8q22.3 |
pathogenic|uncertain significance |
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 |
NM_145690.3(YWHAZ):c.369A>C (p.Gly123=) | single nucleotide variant | not provided [RCV000933513] | Chr8:100924965 [GRCh38] Chr8:101937193 [GRCh37] Chr8:8q22.3 |
likely benign |
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771) | copy number gain | Polydactyly [RCV002280629] | Chr8:158048..146295771 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3 | copy number gain | See cases [RCV002285066] | Chr8:84712253..146295771 [GRCh37] Chr8:8q21.2-24.3 |
pathogenic |
GRCh37/hg19 8q22.2-22.3(chr8:101532661-102444420) | copy number loss | not specified [RCV002053789] | Chr8:101532661..102444420 [GRCh37] Chr8:8q22.2-22.3 |
uncertain significance |
GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771) | copy number gain | not specified [RCV002053772] | Chr8:70382990..146295771 [GRCh37] Chr8:8q13.2-24.3 |
pathogenic |
NC_000008.10:g.(?_99135566)_(106815766_?)dup | duplication | Cohen syndrome [RCV001997398] | Chr8:99135566..106815766 [GRCh37] Chr8:8q22.2-23.1 |
uncertain significance |
NM_145690.3(YWHAZ):c.385T>C (p.Leu129=) | single nucleotide variant | not provided [RCV002124430] | Chr8:100924949 [GRCh38] Chr8:101937177 [GRCh37] Chr8:8q22.3 |
likely benign |
NM_145690.3(YWHAZ):c.705C>T (p.Asp235=) | single nucleotide variant | not provided [RCV002173750] | Chr8:100920726 [GRCh38] Chr8:101932954 [GRCh37] Chr8:8q22.3 |
benign |
NM_145690.3(YWHAZ):c.495T>A (p.Pro165=) | single nucleotide variant | not provided [RCV002194792] | Chr8:100924222 [GRCh38] Chr8:101936450 [GRCh37] Chr8:8q22.3 |
likely benign |
NM_145690.3(YWHAZ):c.678+18T>G | single nucleotide variant | not provided [RCV002113369] | Chr8:100923937 [GRCh38] Chr8:101936165 [GRCh37] Chr8:8q22.3 |
benign |
NM_145690.3(YWHAZ):c.582+20C>A | single nucleotide variant | not provided [RCV002085779] | Chr8:100924115 [GRCh38] Chr8:101936343 [GRCh37] Chr8:8q22.3 |
benign |
NM_145690.3(YWHAZ):c.294+14C>T | single nucleotide variant | not provided [RCV002188782] | Chr8:100948582 [GRCh38] Chr8:101960810 [GRCh37] Chr8:8q22.3 |
likely benign |
NM_145690.3(YWHAZ):c.261G>A (p.Glu87=) | single nucleotide variant | not provided [RCV002112903] | Chr8:100948629 [GRCh38] Chr8:101960857 [GRCh37] Chr8:8q22.3 |
benign |
NM_145690.3(YWHAZ):c.583-5C>T | single nucleotide variant | not provided [RCV002201966] | Chr8:100924055 [GRCh38] Chr8:101936283 [GRCh37] Chr8:8q22.3 |
benign |
NM_145690.3(YWHAZ):c.679-11T>C | single nucleotide variant | not provided [RCV002161604] | Chr8:100920763 [GRCh38] Chr8:101932991 [GRCh37] Chr8:8q22.3 |
benign |
GRCh37/hg19 8q22.1-24.3(chr8:96496503-146295711) | copy number gain | not provided [RCV002221452] | Chr8:96496503..146295711 [GRCh37] Chr8:8q22.1-24.3 |
pathogenic |
NC_000008.10:g.(?_98358247)_(106815766_?)dup | duplication | not provided [RCV003122777] | Chr8:98358247..106815766 [GRCh37] Chr8:8q22.1-23.1 |
uncertain significance |
GRCh37/hg19 8q21.12-24.11(chr8:79409349-119040631)x3 | copy number gain | not provided [RCV002474526] | Chr8:79409349..119040631 [GRCh37] Chr8:8q21.12-24.11 |
pathogenic |
NM_145690.3(YWHAZ):c.323A>G (p.Asn108Ser) | single nucleotide variant | not provided [RCV003089903] | Chr8:100925011 [GRCh38] Chr8:101937239 [GRCh37] Chr8:8q22.3 |
uncertain significance |
NM_145690.3(YWHAZ):c.679-14C>T | single nucleotide variant | not provided [RCV003043913] | Chr8:100920766 [GRCh38] Chr8:101932994 [GRCh37] Chr8:8q22.3 |
likely benign |
NM_145690.3(YWHAZ):c.570T>G (p.Ser190_Leu191=) | single nucleotide variant | not provided [RCV002943998] | Chr8:100924147 [GRCh38] Chr8:101936375 [GRCh37] Chr8:8q22.3 |
benign |
NM_145690.3(YWHAZ):c.264G>A (p.Thr88_Glu89=) | single nucleotide variant | not provided [RCV002609618] | Chr8:100948626 [GRCh38] Chr8:101960854 [GRCh37] Chr8:8q22.3 |
likely benign |
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. |
SHGC-35187 |
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PMC126239P3 |
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PMC150726P7 |
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alimentary part of gastrointestinal system | circulatory system | endocrine system | exocrine system | hemolymphoid system | hepatobiliary system | integumental system | musculoskeletal system | nervous system | renal system | reproductive system | respiratory system | sensory system | visual system | adipose tissue | appendage | entire extraembryonic component | pharyngeal arch | |
High | 4 | 3 | 2 | 52 | 12 | |||||||||||||
Medium | 2428 | 2949 | 1720 | 619 | 1947 | 461 | 4351 | 2157 | 3706 | 415 | 1396 | 1596 | 171 | 1204 | 2787 | 4 | ||
Low | 7 | 42 | 6 | 5 | 4 | 4 | 2 | 39 | 28 | 2 | 12 | 5 | 4 | 1 | 1 | 2 | 2 | |
Below cutoff |
RefSeq Transcripts | NM_001135699 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001135700 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001135701 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001135702 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_003406 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_145690 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_005251061 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_005251063 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011517290 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017013810 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017013811 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017013812 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_024447266 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AA830489 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AC018781 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AC027373 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK289945 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK294647 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK296902 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK307506 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK315867 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC003623 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC013265 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC051814 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC063824 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC068456 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC070389 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC072426 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC073141 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC083508 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC099904 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC101483 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC108281 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC111951 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BM783874 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BQ605329 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471060 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CN276619 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CN276627 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068270 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CR996247 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DB472116 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DC298291 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DQ185048 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
EF094937 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
EU794582 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
EU794583 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GQ472215 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
M86400 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
S79449 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
U28964 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
U79277 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENST00000353245 ⟹ ENSP00000309503 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000395948 ⟹ ENSP00000379278 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000395951 ⟹ ENSP00000379281 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000395953 ⟹ ENSP00000379283 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000395956 ⟹ ENSP00000379286 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000395957 ⟹ ENSP00000379287 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000395958 ⟹ ENSP00000379288 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000418997 ⟹ ENSP00000416551 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000419477 ⟹ ENSP00000395114 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000437293 ⟹ ENSP00000394880 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000457309 ⟹ ENSP00000398599 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000480304 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000492736 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000517727 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000518736 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000521309 ⟹ ENSP00000429623 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000521328 ⟹ ENSP00000429041 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000521607 ⟹ ENSP00000430058 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000522542 ⟹ ENSP00000430072 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000522819 ⟹ ENSP00000428775 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000523131 ⟹ ENSP00000428381 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000523848 ⟹ ENSP00000428860 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000523938 ⟹ ENSP00000430219 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | NM_001135699 ⟹ NP_001129171 | ||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001135700 ⟹ NP_001129172 | ||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001135701 ⟹ NP_001129173 | ||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001135702 ⟹ NP_001129174 | ||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_003406 ⟹ NP_003397 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_145690 ⟹ NP_663723 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | XM_005251061 ⟹ XP_005251118 | ||||||||||||
RefSeq Status: | |||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | XM_005251063 ⟹ XP_005251120 | ||||||||||||
RefSeq Status: | |||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | XM_017013810 ⟹ XP_016869299 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_017013811 ⟹ XP_016869300 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
Protein RefSeqs | NP_001129171 | (Get FASTA) | NCBI Sequence Viewer |
NP_001129172 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001129173 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001129174 | (Get FASTA) | NCBI Sequence Viewer | |
NP_003397 | (Get FASTA) | NCBI Sequence Viewer | |
NP_663723 | (Get FASTA) | NCBI Sequence Viewer | |
XP_005251118 | (Get FASTA) | NCBI Sequence Viewer | |
XP_005251120 | (Get FASTA) | NCBI Sequence Viewer | |
XP_016869299 | (Get FASTA) | NCBI Sequence Viewer | |
XP_016869300 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAA36446 | (Get FASTA) | NCBI Sequence Viewer |
AAC52052 | (Get FASTA) | NCBI Sequence Viewer | |
AAD14300 | (Get FASTA) | NCBI Sequence Viewer | |
AAH03623 | (Get FASTA) | NCBI Sequence Viewer | |
AAH51814 | (Get FASTA) | NCBI Sequence Viewer | |
AAH63824 | (Get FASTA) | NCBI Sequence Viewer | |
AAH68456 | (Get FASTA) | NCBI Sequence Viewer | |
AAH72426 | (Get FASTA) | NCBI Sequence Viewer | |
AAH73141 | (Get FASTA) | NCBI Sequence Viewer | |
AAH83508 | (Get FASTA) | NCBI Sequence Viewer | |
AAH99904 | (Get FASTA) | NCBI Sequence Viewer | |
AAI01484 | (Get FASTA) | NCBI Sequence Viewer | |
AAI08282 | (Get FASTA) | NCBI Sequence Viewer | |
AAI11952 | (Get FASTA) | NCBI Sequence Viewer | |
ABD14427 | (Get FASTA) | NCBI Sequence Viewer | |
ABO15003 | (Get FASTA) | NCBI Sequence Viewer | |
ACJ13636 | (Get FASTA) | NCBI Sequence Viewer | |
ACJ13637 | (Get FASTA) | NCBI Sequence Viewer | |
ACV87190 | (Get FASTA) | NCBI Sequence Viewer | |
BAF82634 | (Get FASTA) | NCBI Sequence Viewer | |
BAF98758 | (Get FASTA) | NCBI Sequence Viewer | |
BAH11832 | (Get FASTA) | NCBI Sequence Viewer | |
BAH12451 | (Get FASTA) | NCBI Sequence Viewer | |
EAW91823 | (Get FASTA) | NCBI Sequence Viewer | |
EAW91824 | (Get FASTA) | NCBI Sequence Viewer | |
EAW91825 | (Get FASTA) | NCBI Sequence Viewer | |
EAW91826 | (Get FASTA) | NCBI Sequence Viewer | |
EAW91827 | (Get FASTA) | NCBI Sequence Viewer | |
EAW91828 | (Get FASTA) | NCBI Sequence Viewer | |
EAW91829 | (Get FASTA) | NCBI Sequence Viewer | |
P63104 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_003397 ⟸ NM_003406 |
- UniProtKB: | Q86V33 (UniProtKB/Swiss-Prot), P63104 (UniProtKB/Swiss-Prot), D0PNI1 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001129171 ⟸ NM_001135699 |
- UniProtKB: | Q86V33 (UniProtKB/Swiss-Prot), P63104 (UniProtKB/Swiss-Prot), D0PNI1 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_663723 ⟸ NM_145690 |
- UniProtKB: | Q86V33 (UniProtKB/Swiss-Prot), P63104 (UniProtKB/Swiss-Prot), D0PNI1 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001129172 ⟸ NM_001135700 |
- UniProtKB: | Q86V33 (UniProtKB/Swiss-Prot), P63104 (UniProtKB/Swiss-Prot), D0PNI1 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001129173 ⟸ NM_001135701 |
- UniProtKB: | Q86V33 (UniProtKB/Swiss-Prot), P63104 (UniProtKB/Swiss-Prot), D0PNI1 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001129174 ⟸ NM_001135702 |
- UniProtKB: | Q86V33 (UniProtKB/Swiss-Prot), P63104 (UniProtKB/Swiss-Prot), D0PNI1 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_005251118 ⟸ XM_005251061 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q86V33 (UniProtKB/Swiss-Prot), P63104 (UniProtKB/Swiss-Prot), D0PNI1 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_005251120 ⟸ XM_005251063 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q86V33 (UniProtKB/Swiss-Prot), P63104 (UniProtKB/Swiss-Prot), D0PNI1 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_016869299 ⟸ XM_017013810 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q86V33 (UniProtKB/Swiss-Prot), P63104 (UniProtKB/Swiss-Prot), D0PNI1 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_016869300 ⟸ XM_017013811 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q86V33 (UniProtKB/Swiss-Prot), P63104 (UniProtKB/Swiss-Prot), D0PNI1 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSP00000429623 ⟸ ENST00000521309 |
RefSeq Acc Id: | ENSP00000429041 ⟸ ENST00000521328 |
RefSeq Acc Id: | ENSP00000398599 ⟸ ENST00000457309 |
RefSeq Acc Id: | ENSP00000430058 ⟸ ENST00000521607 |
RefSeq Acc Id: | ENSP00000430072 ⟸ ENST00000522542 |
RefSeq Acc Id: | ENSP00000416551 ⟸ ENST00000418997 |
RefSeq Acc Id: | ENSP00000395114 ⟸ ENST00000419477 |
RefSeq Acc Id: | ENSP00000428775 ⟸ ENST00000522819 |
RefSeq Acc Id: | ENSP00000430219 ⟸ ENST00000523938 |
RefSeq Acc Id: | ENSP00000428860 ⟸ ENST00000523848 |
RefSeq Acc Id: | ENSP00000428381 ⟸ ENST00000523131 |
RefSeq Acc Id: | ENSP00000309503 ⟸ ENST00000353245 |
RefSeq Acc Id: | ENSP00000379278 ⟸ ENST00000395948 |
RefSeq Acc Id: | ENSP00000379287 ⟸ ENST00000395957 |
RefSeq Acc Id: | ENSP00000379288 ⟸ ENST00000395958 |
RefSeq Acc Id: | ENSP00000379286 ⟸ ENST00000395956 |
RefSeq Acc Id: | ENSP00000379283 ⟸ ENST00000395953 |
RefSeq Acc Id: | ENSP00000379281 ⟸ ENST00000395951 |
RefSeq Acc Id: | ENSP00000394880 ⟸ ENST00000437293 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-P63104-F1-model_v2 | AlphaFold | P63104 | 1-245 | view protein structure |
RGD ID: | 7213901 | ||||||||
Promoter ID: | EPDNEW_H12696 | ||||||||
Type: | initiation region | ||||||||
Name: | YWHAZ_3 | ||||||||
Description: | tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activationprotein zeta | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H12698 EPDNEW_H12697 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
RGD ID: | 7213905 | ||||||||
Promoter ID: | EPDNEW_H12697 | ||||||||
Type: | initiation region | ||||||||
Name: | YWHAZ_1 | ||||||||
Description: | tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activationprotein zeta | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H12696 EPDNEW_H12698 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
RGD ID: | 7213903 | ||||||||
Promoter ID: | EPDNEW_H12698 | ||||||||
Type: | initiation region | ||||||||
Name: | YWHAZ_2 | ||||||||
Description: | tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activationprotein zeta | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H12696 EPDNEW_H12697 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
RGD ID: | 6815654 | ||||||||
Promoter ID: | HG_MRA:15979 | ||||||||
Type: | Non-CpG | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | Lymphoblastoid | ||||||||
Transcripts: | DQ185048 | ||||||||
Position: |
|
RGD ID: | 6813559 | ||||||||
Promoter ID: | HG_ACW:78184 | ||||||||
Type: | Non-CpG | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | Lymphoblastoid | ||||||||
Transcripts: | YWHAZ.OAPR07-UNSPLICED | ||||||||
Position: |
|
RGD ID: | 6807164 | ||||||||
Promoter ID: | HG_KWN:61817 | ||||||||
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_001135702 | ||||||||
Position: |
|
RGD ID: | 6806667 | ||||||||
Promoter ID: | HG_KWN:61818 | ||||||||
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: | ENST00000395953, ENST00000395956, ENST00000395957, NM_001135699, NM_001135701, NM_003406, NM_145690, OTTHUMT00000259021, OTTHUMT00000259022, OTTHUMT00000259023, OTTHUMT00000259024, UC003YJY.1, UC010MBQ.1 | ||||||||
Position: |
|
Database | Acc Id | Source(s) |
AGR Gene | HGNC:12855 | AgrOrtholog |
COSMIC | YWHAZ | COSMIC |
Ensembl Genes | ENSG00000164924 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Protein | ENSP00000309503 | ENTREZGENE |
ENSP00000309503.3 | UniProtKB/Swiss-Prot | |
ENSP00000379278.2 | UniProtKB/TrEMBL | |
ENSP00000379281 | ENTREZGENE | |
ENSP00000379281.3 | UniProtKB/Swiss-Prot | |
ENSP00000379283 | ENTREZGENE | |
ENSP00000379283.2 | UniProtKB/Swiss-Prot | |
ENSP00000379286 | ENTREZGENE | |
ENSP00000379286.3 | UniProtKB/Swiss-Prot | |
ENSP00000379287 | ENTREZGENE | |
ENSP00000379287.2 | UniProtKB/Swiss-Prot | |
ENSP00000379288 | ENTREZGENE | |
ENSP00000379288.2 | UniProtKB/Swiss-Prot | |
ENSP00000394880.1 | UniProtKB/TrEMBL | |
ENSP00000395114 | ENTREZGENE | |
ENSP00000395114.2 | UniProtKB/Swiss-Prot | |
ENSP00000398599 | ENTREZGENE | |
ENSP00000398599.1 | UniProtKB/Swiss-Prot | |
ENSP00000416551.1 | UniProtKB/TrEMBL | |
ENSP00000428381.1 | UniProtKB/TrEMBL | |
ENSP00000428775.1 | UniProtKB/TrEMBL | |
ENSP00000428860.1 | UniProtKB/TrEMBL | |
ENSP00000429041.1 | UniProtKB/TrEMBL | |
ENSP00000429623.1 | UniProtKB/TrEMBL | |
ENSP00000430058.1 | UniProtKB/TrEMBL | |
ENSP00000430072.1 | UniProtKB/Swiss-Prot | |
ENSP00000430219.1 | UniProtKB/TrEMBL | |
Ensembl Transcript | ENST00000353245 | ENTREZGENE |
ENST00000353245.7 | UniProtKB/Swiss-Prot | |
ENST00000395948.6 | UniProtKB/TrEMBL | |
ENST00000395951 | ENTREZGENE | |
ENST00000395951.7 | UniProtKB/Swiss-Prot | |
ENST00000395953 | ENTREZGENE | |
ENST00000395953.6 | UniProtKB/Swiss-Prot | |
ENST00000395956 | ENTREZGENE | |
ENST00000395956.7 | UniProtKB/Swiss-Prot | |
ENST00000395957 | ENTREZGENE | |
ENST00000395957.6 | UniProtKB/Swiss-Prot | |
ENST00000395958 | ENTREZGENE | |
ENST00000395958.6 | UniProtKB/Swiss-Prot | |
ENST00000418997.1 | UniProtKB/TrEMBL | |
ENST00000419477 | ENTREZGENE | |
ENST00000419477.6 | UniProtKB/Swiss-Prot | |
ENST00000437293.5 | UniProtKB/TrEMBL | |
ENST00000457309 | ENTREZGENE | |
ENST00000457309.2 | UniProtKB/Swiss-Prot | |
ENST00000521309.5 | UniProtKB/TrEMBL | |
ENST00000521328.5 | UniProtKB/TrEMBL | |
ENST00000521607.5 | UniProtKB/TrEMBL | |
ENST00000522542.5 | UniProtKB/Swiss-Prot | |
ENST00000522819.5 | UniProtKB/TrEMBL | |
ENST00000523131.1 | UniProtKB/TrEMBL | |
ENST00000523848.5 | UniProtKB/TrEMBL | |
ENST00000523938.1 | UniProtKB/TrEMBL | |
Gene3D-CATH | 1.20.190.20 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
GTEx | ENSG00000164924 | GTEx |
HGNC ID | HGNC:12855 | ENTREZGENE |
Human Proteome Map | YWHAZ | Human Proteome Map |
InterPro | 14-3-3 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
14-3-3_CS | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
14-3-3_dom_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
14-3-3_domain | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | hsa:7534 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
NCBI Gene | 7534 | ENTREZGENE |
OMIM | 601288 | OMIM |
PANTHER | 14-3-3 PROTEIN ZETA/DELTA | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PTHR18860 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | 14-3-3 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PharmGKB | PA37444 | PharmGKB |
PIRSF | 14-3-3 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PRINTS | 1433ZETA | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PROSITE | 1433_1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
1433_2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SMART | 14_3_3 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Superfamily-SCOP | SSF48445 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
UniProt | 1433Z_HUMAN | UniProtKB/Swiss-Prot |
B0AZS6_HUMAN | UniProtKB/TrEMBL | |
B7Z2E6_HUMAN | UniProtKB/TrEMBL | |
D0PNI1 | ENTREZGENE, UniProtKB/TrEMBL | |
E5RGE1_HUMAN | UniProtKB/TrEMBL | |
E5RIR4_HUMAN | UniProtKB/TrEMBL | |
E7ESK7_HUMAN | UniProtKB/TrEMBL | |
E7EVZ2_HUMAN | UniProtKB/TrEMBL | |
E7EX29_HUMAN | UniProtKB/TrEMBL | |
E9PD24_HUMAN | UniProtKB/TrEMBL | |
H0YB80_HUMAN | UniProtKB/TrEMBL | |
P63104 | ENTREZGENE | |
Q86V33 | ENTREZGENE | |
UniProt Secondary | A8K1N0 | UniProtKB/Swiss-Prot |
B7Z465 | UniProtKB/Swiss-Prot | |
P29213 | UniProtKB/Swiss-Prot | |
P29312 | UniProtKB/Swiss-Prot | |
Q32P43 | UniProtKB/Swiss-Prot | |
Q5XJ08 | UniProtKB/Swiss-Prot | |
Q6GPI2 | UniProtKB/Swiss-Prot | |
Q6IN74 | UniProtKB/Swiss-Prot | |
Q6NUR9 | UniProtKB/Swiss-Prot | |
Q6P3U9 | UniProtKB/Swiss-Prot | |
Q86V33 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2016-03-09 | YWHAZ | tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta | YWHAD | tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, delta polypeptide | Data Merged | 737654 | PROVISIONAL |
2016-03-07 | YWHAZ | tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta | tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta | Symbol and/or name change | 5135510 | APPROVED | |
2013-12-10 | YWHAZ | tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta | tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta polypeptide | Symbol and/or name change | 5135510 | APPROVED | |
2011-08-16 | YWHAZ | tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta polypeptide | YWHAZ | tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta polypeptide | Symbol and/or name change | 5135510 | APPROVED |