AutismKB 2.0

Annotation Detail for KIT


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Basic Information Top
Gene Symbol:KIT ( C-Kit,CD117,PBT,SCFR )
Gene Full Name: v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
Band: 4q12
Quick LinksEntrez ID:3815; OMIM: 164920; Uniprot ID:KIT_HUMAN; ENSEMBL ID: ENSG00000157404; HGNC ID: 6342
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
130N-linked (GlcNAc...).
145N-linked (GlcNAc...) (Potential).
283N-linked (GlcNAc...) (Potential).
293N-linked (GlcNAc...) (Potential).
300N-linked (GlcNAc...) (Potential).
320N-linked (GlcNAc...) (Potential).
352N-linked (GlcNAc...) (Potential).
367N-linked (GlcNAc...) (Potential).
463N-linked (GlcNAc...) (Potential).
486N-linked (GlcNAc...) (Potential).
568Phosphotyrosine (By similarity).
570Phosphotyrosine (By similarity).
703Phosphotyrosine (By similarity).
823Phosphotyrosine; by autocatalysis (By
936Phosphotyrosine.
959Phosphoserine.
Location(AA) Modifications Resource
130N-linked (GlcNAc...).Swiss-Prot 53.0
145N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
283N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
293N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
300N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
320N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
352N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
367N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
463N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
486N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
568Phosphotyrosine (Kit)Phospho.ELM 6.0
570Phosphotyrosine (Kit)Phospho.ELM 6.0
703Phosphotyrosine (Kit)Phospho.ELM 6.0
721PhosphotyrosinePhospho.ELM 6.0
741Phosphoserine (PKC alpha)Phospho.ELM 6.0
746Phosphoserine (PKC alpha)Phospho.ELM 6.0
821Phosphoserine (Kit;PKC alph)Phospho.ELM 6.0
823PhosphotyrosinePhospho.ELM 6.0
823Phosphotyrosine (by autocatalysis) (Bysimilarity).Swiss-Prot 53.0
900Phosphotyrosine (Src;Src
936Phosphotyrosine (Kit)Phospho.ELM 6.0
959Phosphoserine (Kit;PKC alph)Phospho.ELM 6.0
Location(AA) Modification Resource
25Phosphoserine(ATM)HMM predict
28O-linkedHMM predict
30Phosphoserine(ATM)HMM predict
30Phosphoserine(CDK)HMM predict
30Phosphoserine(CDC2)HMM predict
108Phosphotyrosine(SRC)HMM predict
125Phosphotyrosine(INSR)HMM predict
130N-linkedHMM predict
145N-linkedHMM predict
240O-linkedHMM predict
251Phosphoserine(PKG)HMM predict
293N-linkedHMM predict
294N-linkedHMM predict
298O-linkedHMM predict
300N-linkedHMM predict
320N-linkedHMM predict
326N-linkedHMM predict
352N-linkedHMM predict
367N-linkedHMM predict
370N-linkedHMM predict
463N-linkedHMM predict
464Phosphoserine(CDC2)HMM predict
465Phosphoserine(ATM)HMM predict
486N-linkedHMM predict
568Phosphotyrosine(Abl)HMM predict
568Phosphotyrosine(INSR)HMM predict
619Phosphothreonine(PKC)HMM predict
712Phosphoserine(CK2)HMM predict
713Phosphoserine(IKK)HMM predict
715Phosphoserine(ATM)HMM predict
715Phosphoserine(CK1)HMM predict
717Phosphoserine(CK2)HMM predict
721Phosphotyrosine(SRC)HMM predict
721Phosphotyrosine(INSR)HMM predict
721SulfotyrosineHMM predict
721Phosphotyrosine(Syk)HMM predict
721PhosphotyrosineHMM predict
819N-linkedHMM predict
822N-linkedHMM predict
868Phosphoserine(ATM)HMM predict
868Phosphoserine(CDC2)HMM predict
880Phosphotyrosine(Syk)HMM predict
936Phosphotyrosine(INSR)HMM predict
963O-linkedHMM predict
965Phosphoserine(IKK)HMM predict
967Phosphoserine(ATM)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000222
  • Location:chr4 55218917-55301611
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 55218344 55219108 764 192
Oct1 HelaGSE14283 55207934 55207977 43 10962
Oct1 HelaGSE14283 55214210 55214245 35 4690
hScc1 BcellGSE12603 55218270 55218898 628 334
p130 QuiescentGSE19898 55218835 55218981 146 10
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct1 HelaGSE14283 55317544 55317585 41 15953
Oct1 HelaGSE14283 55318750 55318785 35 17156
TFAP2C MCF7GSE21234 55316830 55317289 459 15448
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 55219582 55220091 509 0
CTCF G2GSE9613 55230784 55231066 282 0
CTCF G2GSE9613 55238207 55238398 191 0
CTCF G2GSE9613 55239886 55240070 184 0
CTCF G2GSE9613 55244439 55245000 561 0
CTCF G2GSE9613 55246329 55246632 303 0
CTCF G2GSE9613 55269984 55270240 256 0
NFkBII GM12878GSE19485 55287772 55289252 1480 0
NRSF JurkatSISSRdata 55269889 55270064 175 0
Oct1 H2O2-HelaGSE14283 55257925 55257968 43 0
Oct1 HelaGSE14283 55257925 55257968 43 0
TFAP2C MCF7GSE21234 55257486 55257950 464 0
hScc1 G2GSE9613 55244606 55244966 360 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-let-7a hsa-let-7a-1 9 18068232
hsa-let-7a hsa-let-7a-2 11 18068232
hsa-let-7a hsa-let-7a-3 22 18068232
hsa-let-7a* hsa-let-7a-1 9 18068232
hsa-let-7a* hsa-let-7a-3 22 18068232
hsa-let-7b hsa-let-7b 22 18068232
hsa-let-7b* hsa-let-7b 22 18068232
hsa-let-7c hsa-let-7c 21 18068232
hsa-let-7c* hsa-let-7c 21 18068232
hsa-let-7d hsa-let-7d 9 18068232
hsa-let-7d* hsa-let-7d 9 18068232
hsa-let-7e hsa-let-7e 19 18068232
hsa-let-7e* hsa-let-7e 19 18068232
hsa-let-7f hsa-let-7f-1 9 18068232
hsa-let-7f hsa-let-7f-2 X 18068232
hsa-let-7f-1* hsa-let-7f-1 9 18068232
hsa-let-7f-2* hsa-let-7f-2 X 18068232
hsa-let-7g hsa-let-7g 3 18068232
hsa-let-7g* hsa-let-7g 3 18068232
hsa-let-7i hsa-let-7i 12 18068232
hsa-let-7i* hsa-let-7i 12 18068232
hsa-miR-1 hsa-mir-1-2 18 18539123
hsa-miR-1 hsa-mir-1-1 20 18539123
hsa-miR-103 hsa-mir-103-2 20 20505758
hsa-miR-103 hsa-mir-103-1 5 20505758
hsa-miR-107 hsa-mir-107 10 20505758
hsa-miR-128 hsa-mir-128-1 2 20505758
hsa-miR-128 hsa-mir-128-2 3 20505758
hsa-miR-130a hsa-mir-130a 11 20505758
hsa-miR-130a* hsa-mir-130a 11 20505758
hsa-miR-132 hsa-mir-132 17 19768731
hsa-miR-132* hsa-mir-132 17 19768731
hsa-miR-134 hsa-mir-134 14 19768731
hsa-miR-146a hsa-mir-146a 5 16365291
hsa-miR-146a* hsa-mir-146a 5 16365291
hsa-miR-148a hsa-mir-148a 7 18378853
hsa-miR-148a* hsa-mir-148a 7 18378853
hsa-miR-150 hsa-mir-150 19 19615744
hsa-miR-150* hsa-mir-150 19 19615744
hsa-miR-1538 hsa-mir-1538 16 20505758
hsa-miR-155 hsa-mir-155 21 20505758
hsa-miR-155* hsa-mir-155 21 20505758
hsa-miR-16 hsa-mir-16-1 13 20008792
hsa-miR-16 hsa-mir-16-2 3 20008792
hsa-miR-17 hsa-mir-17 13 18068232
hsa-miR-17* hsa-mir-17 13 18068232
hsa-miR-182 hsa-mir-182 7 20227111
hsa-miR-182* hsa-mir-182 7 20227111
hsa-miR-21 hsa-mir-21 17 20417062
hsa-miR-21 hsa-mir-21 17 16365291
hsa-miR-21* hsa-mir-21 17 20417062
hsa-miR-21* hsa-mir-21 17 16365291
hsa-miR-221 hsa-mir-221 X 21273047
hsa-miR-221 hsa-mir-221 X 21132270
hsa-miR-221 hsa-mir-221 X 21119596
hsa-miR-221 hsa-mir-221 X 21076613
hsa-miR-221 hsa-mir-221 X 20827536
hsa-miR-221 hsa-mir-221 X 20822813
hsa-miR-221 hsa-mir-221 X 20505758
hsa-miR-221 hsa-mir-221 X 20417062
hsa-miR-221 hsa-mir-221 X 19768731
hsa-miR-221 hsa-mir-221 X 19615744
hsa-miR-221 hsa-mir-221 X 19126397
hsa-miR-221 hsa-mir-221 X 19088079
hsa-miR-221 hsa-mir-221 X 18983236
hsa-miR-221 hsa-mir-221 X 18417445
hsa-miR-221 hsa-mir-221 X 18246122
hsa-miR-221 hsa-mir-221 X 18068232
hsa-miR-221 hsa-mir-221 X 16849646
hsa-miR-221 hsa-mir-221 X 16365291
hsa-miR-221 hsa-mir-221 X 16330772
hsa-miR-221* hsa-mir-221 X 21273047
hsa-miR-221* hsa-mir-221 X 21132270
hsa-miR-221* hsa-mir-221 X 21119596
hsa-miR-221* hsa-mir-221 X 21076613
hsa-miR-221* hsa-mir-221 X 20827536
hsa-miR-221* hsa-mir-221 X 20822813
hsa-miR-221* hsa-mir-221 X 20505758
hsa-miR-221* hsa-mir-221 X 20417062
hsa-miR-221* hsa-mir-221 X 19768731
hsa-miR-221* hsa-mir-221 X 19615744
hsa-miR-221* hsa-mir-221 X 19126397
hsa-miR-221* hsa-mir-221 X 19088079
hsa-miR-221* hsa-mir-221 X 18983236
hsa-miR-221* hsa-mir-221 X 18417445
hsa-miR-221* hsa-mir-221 X 18246122
hsa-miR-221* hsa-mir-221 X 18068232
hsa-miR-221* hsa-mir-221 X 16849646
hsa-miR-221* hsa-mir-221 X 16365291
hsa-miR-221* hsa-mir-221 X 16330772
hsa-miR-222 hsa-mir-222 X 21132270
hsa-miR-222 hsa-mir-222 X 20827536
hsa-miR-222 hsa-mir-222 X 20822813
hsa-miR-222 hsa-mir-222 X 20417062
hsa-miR-222 hsa-mir-222 X 19768731
hsa-miR-222 hsa-mir-222 X 19615744
hsa-miR-222 hsa-mir-222 X 18417445
hsa-miR-222 hsa-mir-222 X 18246122
hsa-miR-222 hsa-mir-222 X 18068232
hsa-miR-222 hsa-mir-222 X 16849646
hsa-miR-222 hsa-mir-222 X 16330772
hsa-miR-222* hsa-mir-222 X 21132270
hsa-miR-222* hsa-mir-222 X 20827536
hsa-miR-222* hsa-mir-222 X 20822813
hsa-miR-222* hsa-mir-222 X 20417062
hsa-miR-222* hsa-mir-222 X 19768731
hsa-miR-222* hsa-mir-222 X 19615744
hsa-miR-222* hsa-mir-222 X 18417445
hsa-miR-222* hsa-mir-222 X 18246122
hsa-miR-222* hsa-mir-222 X 18068232
hsa-miR-222* hsa-mir-222 X 16849646
hsa-miR-222* hsa-mir-222 X 16330772
hsa-miR-23b hsa-mir-23b 9 19126397
hsa-miR-23b* hsa-mir-23b 9 19126397
hsa-miR-24 hsa-mir-24-1 9 20505758
hsa-miR-24 hsa-mir-24-2 19 20505758
hsa-miR-27b hsa-mir-27b 9 18068232
hsa-miR-27b* hsa-mir-27b 9 18068232
hsa-miR-370 hsa-mir-370 14 19768731
hsa-miR-381 hsa-mir-381 14 21273305
hsa-miR-496 hsa-mir-496 14 20505758
hsa-miR-504 hsa-mir-504 X 19768731
hsa-miR-539 hsa-mir-539 14 21273305
hsa-miR-584 hsa-mir-584 5 20227111
hsa-miR-92a hsa-mir-92a-1 13 18068232
hsa-miR-92a hsa-mir-92a-2 X 18068232
ID in Tarbase Data Type Support Type miRNA Gene Direct Support Publication
543 mRNA repression TRUE miR-221 KIT in vitro reporter gene assay (Luciferase) 16330772
549 mRNA repression TRUE miR-222 KIT in vitro reporter gene assay (Luciferase) 16330772
Ensembl Protein Type Differentially expressed in Pathology or Event Mis Regulation Gene Expression Tumour Involvement
ENSG00000157404 n_a n_a n_a "epithelium, lymphocyte, muscle cell" "benign tumour, malignant tumour, carcinoma, sarcoma"
ENSG00000157404 n_a n_a n_a "epithelium, lymphocyte, muscle cell" "benign tumour, malignant tumour, carcinoma, sarcoma"
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


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