Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | bipolar disorder | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:31043756 | |
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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | bipolar disorder | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:31043756 | |
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# | Reference Title | Reference Citation |
1. | MAPKAP kinases - MKs - two's company, three's a crowd. | Gaestel M Nat Rev Mol Cell Biol. 2006 Feb;7(2):120-30. |
2. | GOAs Human GO annotations | GOA_HUMAN data from the GO Consortium |
3. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
4. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
5. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:7623830 | PMID:8141249 | PMID:8663493 | PMID:8688081 | PMID:8756728 | PMID:8939914 | PMID:9155018 | PMID:9381178 | PMID:9687510 | PMID:9770464 | PMID:9829964 | PMID:9915826 |
PMID:10480933 | PMID:10521512 | PMID:10837486 | PMID:10880354 | PMID:10949026 | PMID:11160957 | PMID:11175347 | PMID:11495723 | PMID:11698596 | PMID:12016217 | PMID:12393804 | PMID:12477932 |
PMID:12832467 | PMID:14574404 | PMID:14646589 | PMID:14702039 | PMID:15112576 | PMID:15345747 | PMID:15489334 | PMID:15867353 | PMID:15995633 | PMID:16217014 | PMID:16344560 | PMID:16621805 |
PMID:16626623 | PMID:16751776 | PMID:16810323 | PMID:16878154 | PMID:16895915 | PMID:17192257 | PMID:20379614 | PMID:21035469 | PMID:21527514 | PMID:21873635 | PMID:21988832 | PMID:22797923 |
PMID:22939624 | PMID:22939629 | PMID:23128233 | PMID:23259602 | PMID:23455922 | PMID:23564320 | PMID:23602568 | PMID:23635776 | PMID:23727904 | PMID:24403857 | PMID:24556642 | PMID:24722188 |
PMID:25189868 | PMID:25241761 | PMID:25544563 | PMID:25852190 | PMID:26186194 | PMID:26977024 | PMID:28319085 | PMID:28514442 | PMID:28611215 | PMID:29117863 | PMID:29144123 | PMID:29507755 |
PMID:29987050 | PMID:30126976 | PMID:31678930 | PMID:31937753 | PMID:31980649 | PMID:32296183 | PMID:32707033 | PMID:32814053 | PMID:32869517 | PMID:33961781 | PMID:34550011 | PMID:34591642 |
PMID:34857952 | PMID:35256949 | PMID:35271311 | PMID:35748872 | PMID:36215168 | PMID:36736316 | PMID:36883564 | PMID:36931259 | PMID:37067748 | PMID:38008756 | PMID:38113892 |
RPS6KA2 (Homo sapiens - human) |
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Rps6ka2 (Mus musculus - house mouse) |
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Rps6ka2 (Rattus norvegicus - Norway rat) |
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Rps6ka2 (Chinchilla lanigera - long-tailed chinchilla) |
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RPS6KA2 (Pan paniscus - bonobo/pygmy chimpanzee) |
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RPS6KA2 (Canis lupus familiaris - dog) |
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Rps6ka2 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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RPS6KA2 (Sus scrofa - pig) |
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RPS6KA2 (Chlorocebus sabaeus - green monkey) |
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Rps6ka2 (Heterocephalus glaber - naked mole-rat) |
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Variants in RPS6KA2
40 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3 | copy number gain | See cases [RCV000050604] | Chr6:141132990..169339571 [GRCh38] Chr6:141454127..169739666 [GRCh37] Chr6:141495820..169481591 [NCBI36] Chr6:6q24.1-27 |
pathogenic |
GRCh38/hg38 6q25.2-27(chr6:152376338-170583214)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051902]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051902]|See cases [RCV000051902] | Chr6:152376338..170583214 [GRCh38] Chr6:152697473..170892302 [GRCh37] Chr6:152739166..170734227 [NCBI36] Chr6:6q25.2-27 |
pathogenic |
GRCh38/hg38 6q25.3-27(chr6:158664768-170612001)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051904]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051904]|See cases [RCV000051904] | Chr6:158664768..170612001 [GRCh38] Chr6:159085800..170921089 [GRCh37] Chr6:159005788..170763014 [NCBI36] Chr6:6q25.3-27 |
pathogenic |
GRCh38/hg38 6q25.2-27(chr6:154118058-170602152)x1 | copy number loss | See cases [RCV000052207] | Chr6:154118058..170602152 [GRCh38] Chr6:154439193..170911240 [GRCh37] Chr6:154480885..170753165 [NCBI36] Chr6:6q25.2-27 |
pathogenic |
GRCh38/hg38 6q25.3-27(chr6:159454639-170612001)x1 | copy number loss | See cases [RCV000052209] | Chr6:159454639..170612001 [GRCh38] Chr6:159875671..170921089 [GRCh37] Chr6:159795661..170763014 [NCBI36] Chr6:6q25.3-27 |
pathogenic |
GRCh38/hg38 6q25.3-27(chr6:159825913-170612001)x1 | copy number loss | See cases [RCV000052211] | Chr6:159825913..170612001 [GRCh38] Chr6:160246945..170921089 [GRCh37] Chr6:160166935..170763014 [NCBI36] Chr6:6q25.3-27 |
pathogenic |
GRCh38/hg38 6q25.3-27(chr6:160328288-170612001)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052212]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052212]|See cases [RCV000052212] | Chr6:160328288..170612001 [GRCh38] Chr6:160749320..170921089 [GRCh37] Chr6:160669310..170763014 [NCBI36] Chr6:6q25.3-27 |
pathogenic |
GRCh38/hg38 6q25.3-27(chr6:160359686-170608818)x1 | copy number loss | See cases [RCV000052213] | Chr6:160359686..170608818 [GRCh38] Chr6:160780718..170917906 [GRCh37] Chr6:160700708..170759831 [NCBI36] Chr6:6q25.3-27 |
pathogenic |
GRCh38/hg38 6q25.3-27(chr6:160422761-170612001)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052214]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052214]|See cases [RCV000052214] | Chr6:160422761..170612001 [GRCh38] Chr6:160843793..170921089 [GRCh37] Chr6:160763783..170763014 [NCBI36] Chr6:6q25.3-27 |
pathogenic |
GRCh38/hg38 6q26-27(chr6:161205328-170581161)x1 | copy number loss | See cases [RCV000052215] | Chr6:161205328..170581161 [GRCh38] Chr6:161626360..170890249 [GRCh37] Chr6:161546350..170732174 [NCBI36] Chr6:6q26-27 |
pathogenic |
GRCh38/hg38 6q26-27(chr6:162042846-170608818)x1 | copy number loss | See cases [RCV000052223] | Chr6:162042846..170608818 [GRCh38] Chr6:162463878..170917906 [GRCh37] Chr6:162383868..170759831 [NCBI36] Chr6:6q26-27 |
pathogenic |
GRCh38/hg38 6q26-27(chr6:162789915-170602152)x1 | copy number loss | See cases [RCV000052224] | Chr6:162789915..170602152 [GRCh38] Chr6:163210947..170911240 [GRCh37] Chr6:163130937..170753165 [NCBI36] Chr6:6q26-27 |
pathogenic |
GRCh38/hg38 6q26-27(chr6:163420224-170608818)x1 | copy number loss | See cases [RCV000052225] | Chr6:163420224..170608818 [GRCh38] Chr6:163841256..170917906 [GRCh37] Chr6:163761246..170759831 [NCBI36] Chr6:6q26-27 |
pathogenic |
GRCh38/hg38 6q27(chr6:165126489-170581161)x1 | copy number loss | See cases [RCV000052226] | Chr6:165126489..170581161 [GRCh38] Chr6:165539978..170890249 [GRCh37] Chr6:165459968..170732174 [NCBI36] Chr6:6q27 |
pathogenic |
GRCh38/hg38 6q27(chr6:166370159-170602152)x1 | copy number loss | See cases [RCV000052227] | Chr6:166370159..170602152 [GRCh38] Chr6:166783647..170911240 [GRCh37] Chr6:166703637..170753165 [NCBI36] Chr6:6q27 |
pathogenic |
NM_001006932.1(RPS6KA2):c.955G>A (p.Glu319Lys) | single nucleotide variant | Malignant melanoma [RCV000067212] | Chr6:166469882 [GRCh38] Chr6:166883370 [GRCh37] Chr6:166803360 [NCBI36] Chr6:6q27 |
not provided |
NM_001006932.1(RPS6KA2):c.123+53076C>A | single nucleotide variant | Lung cancer [RCV000096696] | Chr6:166805124 [GRCh38] Chr6:167218612 [GRCh37] Chr6:6q27 |
uncertain significance |
NM_021135.6(RPS6KA2):c.1696G>A (p.Gly566Arg) | single nucleotide variant | Autism spectrum disorder [RCV001291500] | Chr6:166423303 [GRCh38] Chr6:166836791 [GRCh37] Chr6:6q27 |
association |
GRCh37/hg19 6q26-27(chr6:162865436-170901287)x3 | copy number gain | See cases [RCV000184080] | Chr6:162865436..170901287 [GRCh37] Chr6:6q26-27 |
pathogenic |
GRCh38/hg38 6q25.3-27(chr6:160484810-170612011)x1 | copy number loss | See cases [RCV000134021] | Chr6:160484810..170612011 [GRCh38] Chr6:160905842..170921099 [GRCh37] Chr6:160825832..170763024 [NCBI36] Chr6:6q25.3-27 |
pathogenic |
GRCh38/hg38 6q27(chr6:164790270-170612001)x1 | copy number loss | See cases [RCV000135415] | Chr6:164790270..170612001 [GRCh38] Chr6:165203779..170921089 [GRCh37] Chr6:165123769..170763014 [NCBI36] Chr6:6q27 |
pathogenic |
GRCh38/hg38 6q25.2-27(chr6:154539655-170714507)x1 | copy number loss | See cases [RCV000137381] | Chr6:154539655..170714507 [GRCh38] Chr6:154860789..171023595 [GRCh37] Chr6:154902481..170865520 [NCBI36] Chr6:6q25.2-27 |
pathogenic |
GRCh38/hg38 6q25.3-27(chr6:159915390-170714507)x1 | copy number loss | See cases [RCV000139636] | Chr6:159915390..170714507 [GRCh38] Chr6:160336422..171023595 [GRCh37] Chr6:160256412..170865520 [NCBI36] Chr6:6q25.3-27 |
pathogenic |
GRCh38/hg38 6q25.2-27(chr6:152793402-170610394)x1 | copy number loss | See cases [RCV000141880] | Chr6:152793402..170610394 [GRCh38] Chr6:153114537..170919482 [GRCh37] Chr6:153156230..170761407 [NCBI36] Chr6:6q25.2-27 |
pathogenic |
GRCh38/hg38 6q25.2-27(chr6:152376338-170612001)x3 | copy number gain | See cases [RCV000142594] | Chr6:152376338..170612001 [GRCh38] Chr6:152697473..170921089 [GRCh37] Chr6:152739166..170763014 [NCBI36] Chr6:6q25.2-27 |
pathogenic |
GRCh38/hg38 6q26-27(chr6:160899898-170610394)x1 | copy number loss | See cases [RCV000143619] | Chr6:160899898..170610394 [GRCh38] Chr6:161320930..170919482 [GRCh37] Chr6:161240920..170761407 [NCBI36] Chr6:6q26-27 |
pathogenic |
GRCh37/hg19 6q26-27(chr6:163731741-167090237)x1 | copy number loss | See cases [RCV000449040] | Chr6:163731741..167090237 [GRCh37] Chr6:6q26-27 |
pathogenic |
GRCh37/hg19 6q25.1-27(chr6:151214792-170892243)x3 | copy number gain | See cases [RCV000449011] | Chr6:151214792..170892243 [GRCh37] Chr6:6q25.1-27 |
pathogenic |
Single allele | deletion | not provided [RCV000768451] | Chr6:162966301..170914973 [GRCh37] Chr6:6q26-27 |
likely pathogenic |
GRCh37/hg19 6q27(chr6:165443824-170892302)x1 | copy number loss | See cases [RCV000239993] | Chr6:165443824..170892302 [GRCh37] Chr6:6q27 |
pathogenic |
GRCh37/hg19 6q25.3-27(chr6:159121459-170919482) | copy number loss | Hydrocephalus [RCV002280751] | Chr6:159121459..170919482 [GRCh37] Chr6:6q25.3-27 |
pathogenic |
NM_021135.6(RPS6KA2):c.2054G>A (p.Arg685Gln) | single nucleotide variant | Inborn genetic diseases [RCV003245692] | Chr6:166413816 [GRCh38] Chr6:166827304 [GRCh37] Chr6:6q27 |
uncertain significance |
GRCh37/hg19 6q27(chr6:166331006-166984713)x1 | copy number loss | See cases [RCV000449260] | Chr6:166331006..166984713 [GRCh37] Chr6:6q27 |
uncertain significance |
GRCh37/hg19 6q26-27(chr6:162381975-170919482)x1 | copy number loss | See cases [RCV000449121] | Chr6:162381975..170919482 [GRCh37] Chr6:6q26-27 |
pathogenic |
GRCh37/hg19 6q27(chr6:165622608-166897295)x3 | copy number gain | See cases [RCV000445739] | Chr6:165622608..166897295 [GRCh37] Chr6:6q27 |
uncertain significance |
GRCh37/hg19 6q27(chr6:167194654-167416922)x1 | copy number loss | See cases [RCV000445795] | Chr6:167194654..167416922 [GRCh37] Chr6:6q27 |
uncertain significance |
GRCh37/hg19 6q26-27(chr6:164361517-170919482)x1 | copy number loss | See cases [RCV000446024] | Chr6:164361517..170919482 [GRCh37] Chr6:6q26-27 |
pathogenic |
GRCh37/hg19 6q27(chr6:166571083-167265466)x1 | copy number loss | See cases [RCV000447812] | Chr6:166571083..167265466 [GRCh37] Chr6:6q27 |
uncertain significance |
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 | copy number gain | See cases [RCV000512067] | Chr6:156975..170919482 [GRCh37] Chr6:6p25.3-q27 |
pathogenic |
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) | copy number gain | See cases [RCV000510595] | Chr6:156975..170919482 [GRCh37] Chr6:6p25.3-q27 |
pathogenic |
GRCh37/hg19 6q27(chr6:166110423-170919482)x1 | copy number loss | See cases [RCV000510607] | Chr6:166110423..170919482 [GRCh37] Chr6:6q27 |
pathogenic |
GRCh37/hg19 6q26-27(chr6:164276935-170919482)x1 | copy number loss | See cases [RCV000511755] | Chr6:164276935..170919482 [GRCh37] Chr6:6q26-27 |
pathogenic |
GRCh37/hg19 6q25.3-27(chr6:159844762-170919482)x3 | copy number gain | not provided [RCV000682734] | Chr6:159844762..170919482 [GRCh37] Chr6:6q25.3-27 |
pathogenic |
GRCh37/hg19 6q27(chr6:165190527-170919482)x1 | copy number loss | not provided [RCV000682744] | Chr6:165190527..170919482 [GRCh37] Chr6:6q27 |
pathogenic |
46,XX,der(6)(q25.1,q28)dn.seq[GRCh37/hg19]der(6)(6pter->6q25.2(+)(154768571)::q25.2(+)(154778901),q25.2(+)154778992::q25.2(-)(154774048),q25.2(-)(154768571)::q25.2(-)(154768571),q25.1(-)(~151443183-151443483))dn | complex | Coffin-Siris syndrome 1 [RCV000714957] | Chr6:151443333..171115067 [GRCh37] Chr6:6q25.1-27 |
pathogenic |
GRCh37/hg19 6q27(chr6:166686874-166891466)x3 | copy number gain | not provided [RCV000682745] | Chr6:166686874..166891466 [GRCh37] Chr6:6q27 |
uncertain significance |
GRCh37/hg19 6q27(chr6:167167381-167433823)x1 | copy number loss | not provided [RCV000682746] | Chr6:167167381..167433823 [GRCh37] Chr6:6q27 |
uncertain significance |
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 | copy number gain | not provided [RCV000745400] | Chr6:60107..171054786 [GRCh37] Chr6:6p25.3-q27 |
pathogenic |
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 | copy number gain | not provided [RCV000745404] | Chr6:165632..170919470 [GRCh37] Chr6:6p25.3-q27 |
pathogenic |
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 | copy number gain | not provided [RCV000745403] | Chr6:108666..170980171 [GRCh37] Chr6:6p25.3-q27 |
pathogenic |
GRCh37/hg19 6q25.1-27(chr6:150284435-170919470)x3 | copy number gain | not provided [RCV000746100] | Chr6:150284435..170919470 [GRCh37] Chr6:6q25.1-27 |
pathogenic |
GRCh37/hg19 6q25.3-27(chr6:159155998-171054786)x3 | copy number gain | not provided [RCV000746132] | Chr6:159155998..171054786 [GRCh37] Chr6:6q25.3-27 |
pathogenic |
GRCh37/hg19 6q27(chr6:165989942-171054786)x1 | copy number loss | not provided [RCV000746208] | Chr6:165989942..171054786 [GRCh37] Chr6:6q27 |
pathogenic |
GRCh37/hg19 6q27(chr6:166702780-166873823)x1 | copy number loss | not provided [RCV000746210] | Chr6:166702780..166873823 [GRCh37] Chr6:6q27 |
benign |
GRCh37/hg19 6q27(chr6:166999291-167000131)x1 | copy number loss | not provided [RCV000746211] | Chr6:166999291..167000131 [GRCh37] Chr6:6q27 |
benign |
GRCh37/hg19 6q27(chr6:166999460-167000059)x1 | copy number loss | not provided [RCV000746212] | Chr6:166999460..167000059 [GRCh37] Chr6:6q27 |
benign |
GRCh37/hg19 6q27(chr6:166999676-167000009)x1 | copy number loss | not provided [RCV000746213] | Chr6:166999676..167000009 [GRCh37] Chr6:6q27 |
benign |
GRCh37/hg19 6q27(chr6:166999676-167000059)x1 | copy number loss | not provided [RCV000746214] | Chr6:166999676..167000059 [GRCh37] Chr6:6q27 |
benign |
GRCh37/hg19 6q27(chr6:166999727-167000059)x1 | copy number loss | not provided [RCV000746215] | Chr6:166999727..167000059 [GRCh37] Chr6:6q27 |
benign |
GRCh37/hg19 6q27(chr6:167029183-167065170)x3 | copy number gain | not provided [RCV000746216] | Chr6:167029183..167065170 [GRCh37] Chr6:6q27 |
benign |
GRCh37/hg19 6q27(chr6:167058026-167139479)x3 | copy number gain | not provided [RCV000746217] | Chr6:167058026..167139479 [GRCh37] Chr6:6q27 |
benign |
GRCh37/hg19 6q27(chr6:167197344-167198027)x0 | copy number loss | not provided [RCV000746218] | Chr6:167197344..167198027 [GRCh37] Chr6:6q27 |
benign |
GRCh37/hg19 6q27(chr6:167197433-167198027)x0 | copy number loss | not provided [RCV000746219] | Chr6:167197433..167198027 [GRCh37] Chr6:6q27 |
benign |
GRCh37/hg19 6q27(chr6:167199572-167238612)x3 | copy number gain | not provided [RCV000746220] | Chr6:167199572..167238612 [GRCh37] Chr6:6q27 |
benign |
NM_021135.6(RPS6KA2):c.1695C>T (p.Asn565=) | single nucleotide variant | not provided [RCV000950154] | Chr6:166423304 [GRCh38] Chr6:166836792 [GRCh37] Chr6:6q27 |
benign|likely benign |
NM_021135.6(RPS6KA2):c.2187G>C (p.Thr729=) | single nucleotide variant | not provided [RCV000962189] | Chr6:166412777 [GRCh38] Chr6:166826265 [GRCh37] Chr6:6q27 |
benign |
GRCh37/hg19 6q26-27(chr6:162661108-170919482)x1 | copy number loss | not provided [RCV001005878] | Chr6:162661108..170919482 [GRCh37] Chr6:6q26-27 |
pathogenic |
GRCh37/hg19 6q27(chr6:166517762-170919470) | copy number loss | not provided [RCV000767664] | Chr6:166517762..170919470 [GRCh37] Chr6:6q27 |
pathogenic |
GRCh37/hg19 6q26-27(chr6:162452035-170919482)x1 | copy number loss | not provided [RCV001005874] | Chr6:162452035..170919482 [GRCh37] Chr6:6q26-27 |
pathogenic |
GRCh37/hg19 6q27(chr6:166607593-170919482)x1 | copy number loss | not provided [RCV000846415] | Chr6:166607593..170919482 [GRCh37] Chr6:6q27 |
pathogenic |
NM_021135.6(RPS6KA2):c.983G>A (p.Arg328Gln) | single nucleotide variant | Inborn genetic diseases [RCV003239913] | Chr6:166459541 [GRCh38] Chr6:166873029 [GRCh37] Chr6:6q27 |
uncertain significance |
GRCh37/hg19 6q25.3-27(chr6:159006336-170713678)x3 | copy number gain | not provided [RCV003312672] | Chr6:159006336..170713678 [GRCh37] Chr6:6q25.3-27 |
uncertain significance |
NM_021135.6(RPS6KA2):c.1498C>T (p.Arg500Trp) | single nucleotide variant | Inborn genetic diseases [RCV003272707] | Chr6:166430536 [GRCh38] Chr6:166844024 [GRCh37] Chr6:6q27 |
uncertain significance |
GRCh37/hg19 6q27(chr6:166827923-167156755)x3 | copy number gain | not provided [RCV001005881] | Chr6:166827923..167156755 [GRCh37] Chr6:6q27 |
uncertain significance |
GRCh37/hg19 6q27(chr6:167220089-167305288)x1 | copy number loss | not provided [RCV001258772] | Chr6:167220089..167305288 [GRCh37] Chr6:6q27 |
likely benign |
GRCh37/hg19 6q27(chr6:166083476-170919482)x3 | copy number gain | not provided [RCV001258773] | Chr6:166083476..170919482 [GRCh37] Chr6:6q27 |
likely pathogenic |
GRCh37/hg19 6q26-27(chr6:161047873-170919482) | copy number loss | not specified [RCV002053651] | Chr6:161047873..170919482 [GRCh37] Chr6:6q26-27 |
pathogenic |
GRCh37/hg19 6q27(chr6:165622608-166897295) | copy number gain | not specified [RCV002053656] | Chr6:165622608..166897295 [GRCh37] Chr6:6q27 |
uncertain significance |
GRCh37/hg19 6q26-27(chr6:162212864-170919482) | copy number gain | not specified [RCV002053652] | Chr6:162212864..170919482 [GRCh37] Chr6:6q26-27 |
pathogenic |
GRCh37/hg19 6q26-27(chr6:162381975-170919482) | copy number loss | not specified [RCV002053653] | Chr6:162381975..170919482 [GRCh37] Chr6:6q26-27 |
pathogenic |
GRCh37/hg19 6q26-27(chr6:163290087-170919482) | copy number loss | not specified [RCV002053655] | Chr6:163290087..170919482 [GRCh37] Chr6:6q26-27 |
pathogenic |
GRCh37/hg19 6q27(chr6:167263995-167774832)x3 | copy number gain | not provided [RCV001834343] | Chr6:167263995..167774832 [GRCh37] Chr6:6q27 |
uncertain significance |
GRCh37/hg19 6q26-27(chr6:163836226-170893669)x1 | copy number loss | not provided [RCV002293168] | Chr6:163836226..170893669 [GRCh37] Chr6:6q26-27 |
pathogenic |
GRCh37/hg19 6q26-27(chr6:163181847-170919482)x1 | copy number loss | not provided [RCV002472604] | Chr6:163181847..170919482 [GRCh37] Chr6:6q26-27 |
pathogenic |
NM_021135.6(RPS6KA2):c.1769C>T (p.Ala590Val) | single nucleotide variant | Inborn genetic diseases [RCV002753973] | Chr6:166419933 [GRCh38] Chr6:166833421 [GRCh37] Chr6:6q27 |
uncertain significance |
NM_021135.6(RPS6KA2):c.1499G>A (p.Arg500Gln) | single nucleotide variant | Inborn genetic diseases [RCV002759270] | Chr6:166430535 [GRCh38] Chr6:166844023 [GRCh37] Chr6:6q27 |
likely benign |
NM_021135.6(RPS6KA2):c.1469G>A (p.Arg490His) | single nucleotide variant | Inborn genetic diseases [RCV002661441] | Chr6:166430565 [GRCh38] Chr6:166844053 [GRCh37] Chr6:6q27 |
uncertain significance |
NM_021135.6(RPS6KA2):c.1915G>A (p.Asp639Asn) | single nucleotide variant | Inborn genetic diseases [RCV002784024] | Chr6:166418248 [GRCh38] Chr6:166831736 [GRCh37] Chr6:6q27 |
uncertain significance |
NM_021135.6(RPS6KA2):c.1976A>G (p.Gln659Arg) | single nucleotide variant | Inborn genetic diseases [RCV002827092] | Chr6:166413894 [GRCh38] Chr6:166827382 [GRCh37] Chr6:6q27 |
uncertain significance |
NM_001006932.3(RPS6KA2):c.119A>G (p.Glu40Gly) | single nucleotide variant | Inborn genetic diseases [RCV002713086] | Chr6:166858204 [GRCh38] Chr6:167271692 [GRCh37] Chr6:6q27 |
uncertain significance |
NM_021135.6(RPS6KA2):c.2182C>A (p.Leu728Ile) | single nucleotide variant | Inborn genetic diseases [RCV002789227] | Chr6:166412782 [GRCh38] Chr6:166826270 [GRCh37] Chr6:6q27 |
uncertain significance |
NM_021135.6(RPS6KA2):c.538A>G (p.Ile180Val) | single nucleotide variant | Inborn genetic diseases [RCV002702663] | Chr6:166504534 [GRCh38] Chr6:166918022 [GRCh37] Chr6:6q27 |
uncertain significance |
NM_021135.6(RPS6KA2):c.1879G>A (p.Gly627Ser) | single nucleotide variant | Inborn genetic diseases [RCV002855152] | Chr6:166418284 [GRCh38] Chr6:166831772 [GRCh37] Chr6:6q27 |
uncertain significance |
NM_021135.6(RPS6KA2):c.1093C>T (p.Pro365Ser) | single nucleotide variant | Inborn genetic diseases [RCV002656303] | Chr6:166451216 [GRCh38] Chr6:166864704 [GRCh37] Chr6:6q27 |
uncertain significance |
NM_021135.6(RPS6KA2):c.979T>C (p.Tyr327His) | single nucleotide variant | Inborn genetic diseases [RCV002652474] | Chr6:166459545 [GRCh38] Chr6:166873033 [GRCh37] Chr6:6q27 |
uncertain significance |
NM_021135.6(RPS6KA2):c.1985C>T (p.Thr662Met) | single nucleotide variant | Inborn genetic diseases [RCV003179219] | Chr6:166413885 [GRCh38] Chr6:166827373 [GRCh37] Chr6:6q27 |
uncertain significance |
NM_021135.6(RPS6KA2):c.1441T>G (p.Phe481Val) | single nucleotide variant | Inborn genetic diseases [RCV003206958] | Chr6:166430593 [GRCh38] Chr6:166844081 [GRCh37] Chr6:6q27 |
uncertain significance |
NM_021135.6(RPS6KA2):c.151T>C (p.Phe51Leu) | single nucleotide variant | Inborn genetic diseases [RCV003309975] | Chr6:166538733 [GRCh38] Chr6:166952221 [GRCh37] Chr6:6q27 |
uncertain significance |
GRCh38/hg38 6q26-27(chr6:161349282-170584790)x1 | copy number loss | Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV003327715] | Chr6:161349282..170584790 [GRCh38] Chr6:6q26-27 |
pathogenic |
GRCh37/hg19 6q25.3-27(chr6:160952761-170892276)x1 | copy number loss | not provided [RCV003334287] | Chr6:160952761..170892276 [GRCh37] Chr6:6q25.3-27 |
pathogenic |
NM_021135.6(RPS6KA2):c.242G>A (p.Gly81Glu) | single nucleotide variant | Inborn genetic diseases [RCV003370838] | Chr6:166531288 [GRCh38] Chr6:166944776 [GRCh37] Chr6:6q27 |
uncertain significance |
GRCh37/hg19 6q27(chr6:167047570-167576975)x3 | copy number gain | not provided [RCV003484659] | Chr6:167047570..167576975 [GRCh37] Chr6:6q27 |
uncertain significance |
NM_021135.6(RPS6KA2):c.249C>T (p.Asp83=) | single nucleotide variant | not provided [RCV003432163] | Chr6:166531281 [GRCh38] Chr6:166944769 [GRCh37] Chr6:6q27 |
likely benign |
GRCh37/hg19 6q27(chr6:167091844-170919482)x1 | copy number loss | not provided [RCV003482936] | Chr6:167091844..170919482 [GRCh37] Chr6:6q27 |
pathogenic |
NM_001006932.3(RPS6KA2):c.123+87310C>T | single nucleotide variant | not provided [RCV003423476] | Chr6:166770890 [GRCh38] Chr6:167184378 [GRCh37] Chr6:6q27 |
likely benign |
NM_021135.6(RPS6KA2):c.1161C>T (p.Pro387=) | single nucleotide variant | not provided [RCV003423475] | Chr6:166451148 [GRCh38] Chr6:166864636 [GRCh37] Chr6:6q27 |
likely benign |
NM_021135.6(RPS6KA2):c.2076+1G>C | single nucleotide variant | not provided [RCV003494306] | Chr6:166413793 [GRCh38] Chr6:166827281 [GRCh37] Chr6:6q27 |
likely pathogenic |
GRCh37/hg19 6q26-27(chr6:162079329-170919482)x1 | copy number loss | not specified [RCV003986639] | Chr6:162079329..170919482 [GRCh37] Chr6:6q26-27 |
pathogenic |
GRCh37/hg19 6q27(chr6:167165318-167433823)x1 | copy number loss | not specified [RCV003986614] | Chr6:167165318..167433823 [GRCh37] Chr6:6q27 |
uncertain significance |
GRCh37/hg19 6q26-27(chr6:162124972-170893669)x1 | copy number loss | not provided [RCV003885515] | Chr6:162124972..170893669 [GRCh37] Chr6:6q26-27 |
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. |
D6S297 |
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D6S1585 |
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RH65049 |
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RH121975 |
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RH121484 |
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RH123785 |
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SHGC-107446 |
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A002B12 |
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AL023487 |
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STS-W96228 |
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D6S1169E |
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AL023486 |
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SHGC-57104 |
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WI-17352 |
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AL022447 |
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RH45609 |
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RPS6KA2__5527 |
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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 | ||||||||||||||||||
Medium | 2040 | 1889 | 1108 | 151 | 540 | 27 | 3314 | 1410 | 3491 | 235 | 1013 | 1476 | 131 | 1185 | 2046 | 1 | ||
Low | 386 | 1015 | 602 | 461 | 1255 | 426 | 1034 | 777 | 238 | 177 | 432 | 113 | 41 | 1 | 19 | 742 | 1 | 2 |
Below cutoff | 10 | 85 | 12 | 8 | 134 | 8 | 5 | 4 | 2 | 6 | 11 | 20 | 3 | 2 |
RefSeq Transcripts | NM_001006932 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001318936 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001318937 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001318938 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_021135 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006715549 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047419233 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047419234 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047419235 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054356188 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054356189 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054356190 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054356191 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AA588877 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AB073884 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AB209116 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF140710 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK027727 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK095751 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK295674 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK307470 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK310428 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL022069 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL023775 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL159163 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AX019387 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC002363 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC011189 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BF205134 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BF339000 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BI836819 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BQ029058 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BU160797 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BU617697 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471051 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068272 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DA320139 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DA328327 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DC402728 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DQ585489 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
HY150133 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KJ534936 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KJ535080 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KJ535087 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
L07598 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
X85106 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
Z98049 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENST00000265678 ⟹ ENSP00000265678 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000366865 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000405189 ⟹ ENSP00000386050 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000481261 ⟹ ENSP00000422484 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000491836 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000503859 ⟹ ENSP00000427015 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000506565 ⟹ ENSP00000425148 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000507350 ⟹ ENSP00000422197 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000507371 ⟹ ENSP00000423114 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000509742 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000510118 ⟹ ENSP00000422435 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000511034 ⟹ ENSP00000425458 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000512860 ⟹ ENSP00000427605 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001006932 ⟹ NP_001006933 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001318936 ⟹ NP_001305865 | ||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001318937 ⟹ NP_001305866 | ||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001318938 ⟹ NP_001305867 | ||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_021135 ⟹ NP_066958 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_006715549 ⟹ XP_006715612 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_047419233 ⟹ XP_047275189 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_047419234 ⟹ XP_047275190 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_047419235 ⟹ XP_047275191 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054356188 ⟹ XP_054212163 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054356189 ⟹ XP_054212164 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054356190 ⟹ XP_054212165 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054356191 ⟹ XP_054212166 | ||||||||
Type: | CODING | ||||||||
Position: |
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Protein RefSeqs | NP_001006933 | (Get FASTA) | NCBI Sequence Viewer |
NP_001305865 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001305866 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001305867 | (Get FASTA) | NCBI Sequence Viewer | |
NP_066958 | (Get FASTA) | NCBI Sequence Viewer | |
XP_006715612 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047275189 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047275190 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047275191 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054212163 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054212164 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054212165 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054212166 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAC82496 | (Get FASTA) | NCBI Sequence Viewer |
AAH02363 | (Get FASTA) | NCBI Sequence Viewer | |
AHW56576 | (Get FASTA) | NCBI Sequence Viewer | |
AHW56719 | (Get FASTA) | NCBI Sequence Viewer | |
AHW56726 | (Get FASTA) | NCBI Sequence Viewer | |
BAD92353 | (Get FASTA) | NCBI Sequence Viewer | |
BAG53121 | (Get FASTA) | NCBI Sequence Viewer | |
BAH12151 | (Get FASTA) | NCBI Sequence Viewer | |
CAA59427 | (Get FASTA) | NCBI Sequence Viewer | |
CAC07738 | (Get FASTA) | NCBI Sequence Viewer | |
EAW47522 | (Get FASTA) | NCBI Sequence Viewer | |
EAW47523 | (Get FASTA) | NCBI Sequence Viewer | |
EAW47524 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000265678 | ||
ENSP00000265678.4 | |||
ENSP00000386050.3 | |||
ENSP00000422197.1 | |||
ENSP00000422435 | |||
ENSP00000422435.1 | |||
ENSP00000422484 | |||
ENSP00000422484.1 | |||
ENSP00000423114.1 | |||
ENSP00000425148.1 | |||
ENSP00000425458.1 | |||
ENSP00000427015 | |||
ENSP00000427015.1 | |||
ENSP00000427605.1 | |||
GenBank Protein | Q15349 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_001006933 ⟸ NM_001006932 |
- Peptide Label: | isoform b |
- Sequence: |
RefSeq Acc Id: | NP_066958 ⟸ NM_021135 |
- Peptide Label: | isoform a |
- UniProtKB: | Q96J38 (UniProtKB/Swiss-Prot), Q5TI68 (UniProtKB/Swiss-Prot), Q59GJ3 (UniProtKB/Swiss-Prot), Q15419 (UniProtKB/Swiss-Prot), B3KTK9 (UniProtKB/Swiss-Prot), Q9UJN5 (UniProtKB/Swiss-Prot), Q15349 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_006715612 ⟸ XM_006715549 |
- Peptide Label: | isoform X1 |
- Sequence: |
RefSeq Acc Id: | NP_001305866 ⟸ NM_001318937 |
- Peptide Label: | isoform d |
- UniProtKB: | Q15349 (UniProtKB/Swiss-Prot), X5D337 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001305865 ⟸ NM_001318936 |
- Peptide Label: | isoform c |
- UniProtKB: | F2Z2J1 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001305867 ⟸ NM_001318938 |
- Peptide Label: | isoform e |
- UniProtKB: | B7Z3B5 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSP00000427015 ⟸ ENST00000503859 |
RefSeq Acc Id: | ENSP00000425148 ⟸ ENST00000506565 |
RefSeq Acc Id: | ENSP00000422197 ⟸ ENST00000507350 |
RefSeq Acc Id: | ENSP00000423114 ⟸ ENST00000507371 |
RefSeq Acc Id: | ENSP00000422484 ⟸ ENST00000481261 |
RefSeq Acc Id: | ENSP00000386050 ⟸ ENST00000405189 |
RefSeq Acc Id: | ENSP00000422435 ⟸ ENST00000510118 |
RefSeq Acc Id: | ENSP00000425458 ⟸ ENST00000511034 |
RefSeq Acc Id: | ENSP00000427605 ⟸ ENST00000512860 |
RefSeq Acc Id: | ENSP00000265678 ⟸ ENST00000265678 |
RefSeq Acc Id: | XP_047275191 ⟸ XM_047419235 |
- Peptide Label: | isoform X4 |
- UniProtKB: | B7Z3B5 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_047275189 ⟸ XM_047419233 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_047275190 ⟸ XM_047419234 |
- Peptide Label: | isoform X3 |
RefSeq Acc Id: | XP_054212166 ⟸ XM_054356191 |
- Peptide Label: | isoform X4 |
- UniProtKB: | B7Z3B5 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054212164 ⟸ XM_054356189 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_054212165 ⟸ XM_054356190 |
- Peptide Label: | isoform X3 |
RefSeq Acc Id: | XP_054212163 ⟸ XM_054356188 |
- Peptide Label: | isoform X1 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q15349-F1-model_v2 | AlphaFold | Q15349 | 1-733 | view protein structure |
RGD ID: | 7209641 | ||||||||
Promoter ID: | EPDNEW_H10567 | ||||||||
Type: | multiple initiation site | ||||||||
Name: | RPS6KA2_2 | ||||||||
Description: | ribosomal protein S6 kinase A2 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H10568 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
RGD ID: | 7209645 | ||||||||
Promoter ID: | EPDNEW_H10568 | ||||||||
Type: | initiation region | ||||||||
Name: | RPS6KA2_1 | ||||||||
Description: | ribosomal protein S6 kinase A2 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H10567 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
RGD ID: | 6803995 | ||||||||
Promoter ID: | HG_KWN:55760 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, K562, Lymphoblastoid, NB4 | ||||||||
Transcripts: | ENST00000366863, OTTHUMT00000043075 | ||||||||
Position: |
|
RGD ID: | 6804749 | ||||||||
Promoter ID: | HG_KWN:55762 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | Lymphoblastoid | ||||||||
Transcripts: | NM_001006932, OTTHUMT00000043077, UC003QVD.1 | ||||||||
Position: |
|
Database | Acc Id | Source(s) |
AGR Gene | HGNC:10431 | AgrOrtholog |
COSMIC | RPS6KA2 | COSMIC |
Ensembl Genes | ENSG00000071242 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENST00000265678 | ENTREZGENE |
ENST00000265678.9 | UniProtKB/Swiss-Prot | |
ENST00000405189.7 | UniProtKB/TrEMBL | |
ENST00000481261 | ENTREZGENE | |
ENST00000481261.6 | UniProtKB/TrEMBL | |
ENST00000503859 | ENTREZGENE | |
ENST00000503859.5 | UniProtKB/Swiss-Prot | |
ENST00000506565.1 | UniProtKB/TrEMBL | |
ENST00000507350.5 | UniProtKB/TrEMBL | |
ENST00000507371.5 | UniProtKB/TrEMBL | |
ENST00000510118 | ENTREZGENE | |
ENST00000510118.5 | UniProtKB/TrEMBL | |
ENST00000511034.1 | UniProtKB/TrEMBL | |
ENST00000512860.5 | UniProtKB/TrEMBL | |
Gene3D-CATH | Transferase(Phosphotransferase) domain 1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
GTEx | ENSG00000071242 | GTEx |
HGNC ID | HGNC:10431 | ENTREZGENE |
Human Proteome Map | RPS6KA2 | Human Proteome Map |
InterPro | AGC-kinase_C | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Kinase-like_dom_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pkinase_C | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Prot_kinase_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Protein_kinase_ATP_BS | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Ribosomal_S6_kinase_II | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
RSK3_STKc | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
RSK_N | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Ser/Thr_kinase_AS | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | hsa:6196 | UniProtKB/Swiss-Prot |
NCBI Gene | 6196 | ENTREZGENE |
OMIM | 601685 | OMIM |
PANTHER | RIBOSOMAL PROTEIN S6 KINASE | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
RIBOSOMAL PROTEIN S6 KINASE A4 | UniProtKB/TrEMBL | |
RIBOSOMAL PROTEIN S6 KINASE ALPHA-2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SERINE/THREONINE-PROTEIN KINASE | UniProtKB/TrEMBL | |
Pfam | Pkinase | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Pkinase_C | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PharmGKB | PA34846 | PharmGKB |
PIRSF | Ribsml_S6_kin_2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PROSITE | AGC_KINASE_CTER | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PROTEIN_KINASE_ATP | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PROTEIN_KINASE_DOM | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PROTEIN_KINASE_ST | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SMART | S_TK_X | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
S_TKc | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Superfamily-SCOP | SSF56112 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
UniProt | B3KTK9 | ENTREZGENE |
B7Z3B5 | ENTREZGENE, UniProtKB/TrEMBL | |
D6R910_HUMAN | UniProtKB/TrEMBL | |
D6RA62_HUMAN | UniProtKB/TrEMBL | |
D6RD75_HUMAN | UniProtKB/TrEMBL | |
D6RE03_HUMAN | UniProtKB/TrEMBL | |
D6RHW7_HUMAN | UniProtKB/TrEMBL | |
F2Z2J1 | ENTREZGENE, UniProtKB/TrEMBL | |
KS6A2_HUMAN | UniProtKB/Swiss-Prot, ENTREZGENE | |
Q15419 | ENTREZGENE | |
Q59GJ3 | ENTREZGENE | |
Q5TI68 | ENTREZGENE | |
Q96J38 | ENTREZGENE | |
Q9UJN5 | ENTREZGENE | |
X5D337 | ENTREZGENE, UniProtKB/TrEMBL | |
X5DNZ1_HUMAN | UniProtKB/TrEMBL | |
X5DPB4_HUMAN | UniProtKB/TrEMBL | |
UniProt Secondary | B3KTK9 | UniProtKB/Swiss-Prot |
Q15419 | UniProtKB/Swiss-Prot | |
Q59GJ3 | UniProtKB/Swiss-Prot | |
Q5TI68 | UniProtKB/Swiss-Prot | |
Q96J38 | UniProtKB/Swiss-Prot | |
Q9UJN5 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2016-03-07 | RPS6KA2 | ribosomal protein S6 kinase A2 | RPS6KA2 | ribosomal protein S6 kinase, 90kDa, polypeptide 2 | Symbol and/or name change | 5135510 | APPROVED |