AutismKB 2.0

Annotation Detail for KIRREL


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Basic Information Top
Gene Symbol:KIRREL ( FLJ10845,MGC129542,MGC129543,NEPH1 )
Gene Full Name: kin of IRRE like (Drosophila)
Band: 1q21-q25
Quick LinksEntrez ID:55243; OMIM: 607428; Uniprot ID:KIRR1_HUMAN; ENSEMBL ID: ENSG00000183853; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
46N-linked (GlcNAc...) (Potential).
140N-linked (GlcNAc...) (Potential).
297N-linked (GlcNAc...).
407Cell attachment site (Potential).
471N-linked (GlcNAc...) (Potential).
560Phosphoserine.
605Phosphotyrosine.
622Phosphotyrosine.
625Phosphotyrosine.
721Phosphotyrosine.
724Phosphotyrosine.
Location(AA) Modifications Resource
46N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
140N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
297N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
471N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
605Phosphotyrosine (By similarity).Swiss-Prot 53.0
622PhosphotyrosinePhospho.ELM 6.0
622Phosphotyrosine.Swiss-Prot 53.0
625Phosphotyrosine.Swiss-Prot 53.0
625PhosphotyrosinePhospho.ELM 6.0
724Phosphotyrosine.Swiss-Prot 53.0
724PhosphotyrosinePhospho.ELM 6.0
Location(AA) Modification Resource
16Phosphoserine(ATM)HMM predict
16Phosphoserine(CK1)HMM predict
46N-linkedHMM predict
93Phosphoserine(CK2)HMM predict
98Phosphotyrosine(Jak)HMM predict
140N-linkedHMM predict
180Phosphothreonine(PKA)HMM predict
188N-linkedHMM predict
323O-linkedHMM predict
446PhosphothreonineHMM predict
448Phosphoserine(IKK)HMM predict
448Phosphoserine(CK1)HMM predict
471N-linkedHMM predict
473O-linkedHMM predict
476N-linkedHMM predict
527Phosphoserine(PKG)HMM predict
527Phosphoserine(PKC)HMM predict
527Phosphoserine(PKA)HMM predict
532Phosphothreonine(PKC)HMM predict
574Phosphoserine(CK2)HMM predict
596Phosphotyrosine(Syk)HMM predict
596SulfotyrosineHMM predict
605Phosphotyrosine(Jak)HMM predict
605Phosphotyrosine(Syk)HMM predict
606Phosphotyrosine(Jak)HMM predict
642Phosphoserine(CK1)HMM predict
676O-linkedHMM predict
678O-linkedHMM predict
687Phosphotyrosine(Syk)HMM predict
721Phosphotyrosine(Syk)HMM predict
724Phosphotyrosine(Syk)HMM predict
737Phosphoserine(PKA)HMM predict
739PhenylalanineHMM predict
740Phosphoserine(ATM)HMM predict
743Phosphoserine(PKA)HMM predict
749PhenylalanineHMM predict
752PhenylalanineHMM predict
753MethionineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_018240
  • Location:chr1 156229686-156332469
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 156228442 156228648 206 1142
CTCF CD4SISSRdata 156228442 156228648 206 1142
CTCF G2GSE9613 156228277 156229013 736 1042
NRSF-poly JurkatQuESTdata 156224521 156224822 301 5015
hScc1 BcellGSE12603 156228313 156228976 663 1042
hScc1 CdLSGSE12603 156228277 156228794 517 1151
hScc1 G2GSE9613 156228313 156229050 737 1005
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 156332888 156333094 206 522
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 156332275 156332459 184 0
CTCF CD4SISSRdata 156332275 156332459 184 0
CTCF HelaGSE12889 156332101 156332625 524 0
CTCF G2GSE9613 156231038 156231358 320 0
CTCF G2GSE9613 156272147 156273470 1323 0
CTCF G2GSE9613 156274384 156274526 142 0
CTCF G2GSE9613 156320075 156320220 145 0
CTCF G2GSE9613 156323840 156324369 529 0
CTCF G2GSE9613 156330708 156331393 685 0
CTCF G2GSE9613 156332097 156332409 312 0
H3K4me2 HCT116GSE10453 156230952 156231576 624 0
KLF4 hESGSE17917 156264386 156264789 403 0
Oct1 HelaGSE14283 156249927 156249965 38 0
Oct1 HelaGSE14283 156251986 156252022 36 0
Oct1 HelaGSE14283 156286247 156286290 43 0
Oct1 HelaGSE14283 156323051 156323147 96 0
P300 T30-glioblastomaGSE21026 156255541 156258102 2561 0
Rb QuiescentGSE19898 156259092 156259225 133 0
hScc1 BcellGSE12603 156242912 156243229 317 0
hScc1 CdLSGSE12603 156323840 156324254 414 0
hScc1 G2GSE9613 156323840 156324328 488 0
p130 SenescentGSE19898 156255909 156256436 527 0
p130 SenescentGSE19898 156256455 156256846 391 0
p130 shRbSenescentGSE19898 156230277 156230802 525 0
p130 shRbSenescentGSE19898 156255878 156256243 365 0
Validated miRNA targets Top
Cis-Nats regulation Top

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