AutismKB 2.0

Annotation Detail for RYR1


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Basic Information Top
Gene Symbol:RYR1 ( CCO,MHS,MHS1,RYDR,RYR,SKRR )
Gene Full Name: ryanodine receptor 1 (skeletal)
Band: 19q13.2
Quick LinksEntrez ID:6261; OMIM: 180901; Uniprot ID:RYR1_HUMAN; ENSEMBL ID: ENSG00000196218; HGNC ID: 10483
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
2843Phosphoserine; by PKA and PKG (By
3466N-linked (GlcNAc...) (Potential).
3474N-linked (GlcNAc...) (Potential).
3635S-nitrosocysteine.
3908N-linked (GlcNAc...) (Potential).
3949N-linked (GlcNAc...) (Potential).
3951Phosphoserine (Potential).
4148N-linked (GlcNAc...) (Potential).
4324Phosphothreonine (Potential).
4864Phosphotyrosine.
4865N-linked (GlcNAc...) (Potential).
4867Phosphoserine.
Location(AA) Modifications Resource
2843Phosphoserine (by PKA and PKG) (Bysimilarity).Swiss-Prot 53.0
3466N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
3474N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
3635S-nitrosocysteine.Swiss-Prot 53.0
3908N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
3949N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
3951Phosphoserine (Potential).Swiss-Prot 53.0
4148N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
4324Phosphothreonine (Potential).Swiss-Prot 53.0
4865N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
52Phosphoserine(IKK)HMM predict
92Phosphoserine(ATM)HMM predict
125Phosphoserine(PKA)HMM predict
397Phosphoserine(ATM)HMM predict
427O-linkedHMM predict
532N-linkedHMM predict
535N-linkedHMM predict
606S-palmitoylHMM predict
658SulfotyrosineHMM predict
691Phosphotyrosine(Syk)HMM predict
964Phosphotyrosine(Syk)HMM predict
1060Phosphoserine(ATM)HMM predict
1064N-linkedHMM predict
1170Phosphoserine(CK1)HMM predict
1281Phosphoserine(IKK)HMM predict
1307Phosphothreonine(MAPK)HMM predict
1307O-linkedHMM predict
1331PhosphotyrosineHMM predict
1331SulfotyrosineHMM predict
1406Phosphothreonine(CDK)HMM predict
1428N-linkedHMM predict
1738Phosphothreonine(CDK)HMM predict
1738Phosphothreonine(MAPK)HMM predict
1770O-linkedHMM predict
1799Phosphoserine(CDC2)HMM predict
1872Phosphothreonine(CK2)HMM predict
1991Phosphothreonine(PKC)HMM predict
1995Phosphothreonine(PKC)HMM predict
2085Phosphoserine(CK1)HMM predict
2085Phosphoserine(CK2)HMM predict
2089Phosphoserine(CK1)HMM predict
2145Phosphoserine(MAPK)HMM predict
2145Phosphoserine(CDC2)HMM predict
2148PhosphoserineHMM predict
2148Phosphoserine(IKK)HMM predict
2154Phosphoserine(IKK)HMM predict
2240S-palmitoylHMM predict
2243Phosphoserine(PKG)HMM predict
2256Phosphotyrosine(Jak)HMM predict
2331Phosphotyrosine(EGFR)HMM predict
2538O-linkedHMM predict
2596Phosphothreonine(PKC)HMM predict
2728Phosphothreonine(PKC)HMM predict
2798Phosphoserine(PKC)HMM predict
2834Phosphothreonine(PKC)HMM predict
2839Phosphothreonine(PKC)HMM predict
2843Phosphoserine(PKA)HMM predict
2843Phosphoserine(CAMK2)HMM predict
2843Phosphoserine(PKG)HMM predict
2848Phosphothreonine(PKC)HMM predict
2849Phosphotyrosine(Syk)HMM predict
2855Phosphotyrosine(Syk)HMM predict
2949Phosphoserine(CK2)HMM predict
3116O-linkedHMM predict
3128N-linkedHMM predict
3174O-linkedHMM predict
3223Phosphoserine(CDC2)HMM predict
3235Phosphoserine(IKK)HMM predict
3294O-linkedHMM predict
3308Phosphothreonine(PKA)HMM predict
3428N-linkedHMM predict
3545Phosphothreonine(CK2)HMM predict
3668Phosphoserine(CK2)HMM predict
3720Phosphotyrosine(Syk)HMM predict
3720SulfotyrosineHMM predict
3901Phosphotyrosine(Syk)HMM predict
3908N-linkedHMM predict
3909O-linkedHMM predict
3913N-linkedHMM predict
3951Phosphoserine(CAMK2)HMM predict
4098Phosphoserine(ATM)HMM predict
4148N-linkedHMM predict
4259Phosphothreonine(CK2)HMM predict
4312Phosphoserine(PKC)HMM predict
4375Phosphothreonine(PKC)HMM predict
4467Phosphothreonine(MAPK)HMM predict
4467Phosphothreonine(CDC2)HMM predict
4467O-linkedHMM predict
4518O-linkedHMM predict
4518Phosphothreonine(MAPK)HMM predict
4529Phosphoserine(MAPK)HMM predict
4529Phosphoserine(CDK)HMM predict
4529Phosphoserine(ATM)HMM predict
4586Phosphoserine(CDC2)HMM predict
4586Phosphoserine(IKK)HMM predict
4602O-linkedHMM predict
4639Phosphotyrosine(Abl)HMM predict
4639Phosphotyrosine(SRC)HMM predict
4639Phosphotyrosine(INSR)HMM predict
4639Phosphotyrosine(Syk)HMM predict
4688SulfotyrosineHMM predict
4733Phosphotyrosine(EGFR)HMM predict
4796Phosphotyrosine(INSR)HMM predict
4865N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001042723
  • Location:chr19 43616179-43770042
  • strand:+
No data
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 43697495 43697906 411 0
CTCF CD4GSE12889 43726922 43727212 290 0
CTCF CD4SISSRdata 43697495 43697906 411 0
CTCF CD4SISSRdata 43726922 43727212 290 0
CTCF HelaGSE12889 43697648 43697861 213 0
CTCF JurkatGSE12889 43661140 43661286 146 0
CTCF JurkatGSE12889 43697545 43697896 351 0
CTCF G2GSE9613 43648716 43648860 144 0
CTCF G2GSE9613 43655631 43656135 504 0
CTCF G2GSE9613 43665225 43666448 1223 0
CTCF G2GSE9613 43678633 43679043 410 0
CTCF G2GSE9613 43680652 43680863 211 0
CTCF G2GSE9613 43697565 43697977 412 0
CTCF G2GSE9613 43701423 43701637 214 0
ER E2-MCF7GSE14664 43764882 43764917 35 0
ER E2-MCF7GSE14664 43765164 43765233 69 0
ER Fulvestrant-MCF7GSE14664 43754416 43754454 38 0
Fos K562GSE19551 43726072 43727419 1347 0
Fos K562GSE19551 43739695 43740248 553 0
GABP k562GSE8489 43627736 43628150 414 0
GABP k562GSE8489 43722973 43723436 463 0
KLF4 hESGSE17917 43623647 43624093 446 0
KLF4 hESGSE17917 43751161 43751416 255 0
Myc K562GSE19551 43739661 43740235 574 0
NFkBII GM10847GSE19485 43765644 43766830 1186 0
NRSF JurkatGSE13047 43637210 43638431 1221 0
NRSF mAbJurkat 43633502 43634455 953 0
NRSF mAbJurkat 43635909 43636338 429 0
NRSF mAbJurkat 43637320 43638405 1085 0
NRSF mAbJurkat 43639602 43641039 1437 0
NRSF mAbJurkat 43641398 43642906 1508 0
NRSF-mono JurkatQuESTdata 43616037 43616333 296 0
NRSF-mono JurkatQuESTdata 43637294 43638422 1128 0
NRSF-poly JurkatQuESTdata 43637286 43638430 1144 0
Oct1 H2O2-HelaGSE14283 43638458 43638499 41 0
Oct1 H2O2-HelaGSE14283 43648939 43648971 32 0
Oct1 H2O2-HelaGSE14283 43697286 43697313 27 0
Oct1 H2O2-HelaGSE14283 43701395 43701427 32 0
Oct1 H2O2-HelaGSE14283 43708505 43708531 26 0
Oct1 H2O2-HelaGSE14283 43721649 43721674 25 0
Oct1 H2O2-HelaGSE14283 43729223 43729248 25 0
Oct1 HelaGSE14283 43621095 43621127 32 0
Oct1 HelaGSE14283 43638428 43638515 87 0
Oct1 HelaGSE14283 43640840 43640871 31 0
Oct1 HelaGSE14283 43648927 43648977 50 0
Oct1 HelaGSE14283 43694745 43694822 77 0
Oct1 HelaGSE14283 43701397 43701431 34 0
Oct1 HelaGSE14283 43708493 43708548 55 0
Oct1 HelaGSE14283 43710990 43711025 35 0
Oct1 HelaGSE14283 43721645 43721675 30 0
Oct1 HelaGSE14283 43746733 43746767 34 0
Oct1 HelaGSE14283 43754410 43754453 43 0
Oct1 HelaGSE14283 43756196 43756231 35 0
Oct1 HelaGSE14283 43760076 43760105 29 0
Oct1 HelaGSE14283 43764882 43764913 31 0
Oct1 HelaGSE14283 43765940 43765971 31 0
PHF8 293TGSE20725 43688878 43689559 681 0
RUNX JurkatGSE17954 43675560 43675799 239 0
TAF k562GSE8489 43627736 43628150 414 0
TAF k562GSE8489 43650948 43651200 252 0
TFAP2C MCF7GSE21234 43660950 43661358 408 0
hScc1 BcellGSE12603 43648605 43648860 255 0
hScc1 BcellGSE12603 43655520 43656071 551 0
hScc1 BcellGSE12603 43683259 43683503 244 0
hScc1 BcellGSE12603 43697672 43697977 305 0
hScc1 BcellGSE12603 43699917 43700291 374 0
hScc1 BcellGSE12603 43701922 43702089 167 0
hScc1 BcellGSE12603 43725834 43726335 501 0
hScc1 BcellGSE12603 43726583 43727187 604 0
hScc1 BcellGSE12603 43733894 43734347 453 0
hScc1 BcellGSE12603 43739710 43740043 333 0
hScc1 BcellGSE12603 43742024 43742231 207 0
hScc1 BcellGSE12603 43744054 43744691 637 0
hScc1 BcellGSE12603 43747877 43748018 141 0
hScc1 BcellGSE12603 43755021 43755765 744 0
hScc1 BcellGSE12603 43766023 43767278 1255 0
hScc1 CdLSGSE12603 43697407 43697977 570 0
hScc1 CdLSGSE12603 43726619 43727187 568 0
hScc1 CdLSGSE12603 43739746 43740043 297 0
hScc1 CdLSGSE12603 43765985 43766280 295 0
hScc1 G2GSE9613 43697565 43697977 412 0
p63 keratinocytesGSE17611 43741758 43743003 1245 0
Validated miRNA targets Top
Cis-Nats regulation Top
Cluster ID Plue Type Plus Gene Name Plus Chromosome Plus Start Plus End Overlap Length Minus Type Minus Gene Name Minus Chromosome Minus Star Minus End Type
13175 mRNA RYR1 chr19 43616179 43770012 2012 EST chr19 43717598 43719610 Non-exonic Bidirectional (NOB) pairs

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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