AutismKB 2.0

Annotation Detail for KAL1


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Basic Information Top
Gene Symbol:KAL1 ( ADMLX,HHA,KAL,KALIG-1,KMS )
Gene Full Name: Kallmann syndrome 1 sequence
Band: Xp22.32
Quick LinksEntrez ID:3730; OMIM: 308700; Uniprot ID:KALM_HUMAN; ENSEMBL ID: ENSG00000011201; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
71N-linked (GlcNAc...) (Potential).
209N-linked (GlcNAc...) (Potential).
300N-linked (GlcNAc...) (Potential).
470N-linked (GlcNAc...) (Potential).
553N-linked (GlcNAc...) (Potential).
564N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
71N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
209N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
300N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
470N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
553N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
564N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
51Phosphoserine(IKK)HMM predict
71N-linkedHMM predict
103Phosphoserine(IKK)HMM predict
243Phosphothreonine(PKC)HMM predict
284Phosphoserine(PKA)HMM predict
300N-linkedHMM predict
304N-linkedHMM predict
351Phosphothreonine(PKA)HMM predict
352Phosphothreonine(PKA)HMM predict
370SulfotyrosineHMM predict
426Phosphothreonine(PKA)HMM predict
470N-linkedHMM predict
475Phosphoserine(IKK)HMM predict
478O-linkedHMM predict
564N-linkedHMM predict
600PhosphoserineHMM predict
600Phosphoserine(PKB)HMM predict
600Phosphoserine(IKK)HMM predict
600Phosphoserine(PKG)HMM predict
600Phosphoserine(PKA)HMM predict
607Phosphoserine(ATM)HMM predict
638Phosphothreonine(MAPK)HMM predict
652Phosphothreonine(CDC2)HMM predict
680TyrosineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000216
  • Location:chrX 8456915-8660226
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 8666728 8666887 159 6581
CTCF CD4GSE12889 8671265 8671565 300 11189
CTCF CD4GSE12889 8677015 8677149 134 16856
CTCF CD4SISSRdata 8666728 8666887 159 6581
CTCF CD4SISSRdata 8671265 8671565 300 11189
CTCF CD4SISSRdata 8677015 8677149 134 16856
CTCF HelaGSE12889 8676986 8677203 217 16868
Nanog hESGSE18292 8666651 8666852 201 6525
TAFII hESGSE17917 8660089 8660384 295 10
hScc1 CdLSGSE12603 8666675 8666933 258 6578
hScc1 G2GSE9613 8666640 8666968 328 6578
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
FOXA1 MCF7GSE15244 8451549 8451941 392 5171
Oct1 HelaGSE14283 8456830 8456873 43 64
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 8659857 8660221 364 0
FOXA1 MCF7GSE15244 8508043 8508191 148 0
FOXA1 MCF7GSE15244 8519335 8519678 343 0
FOXA1 MCF7GSE15244 8654079 8654502 423 0
Nanog ESGSE20650 8493879 8494253 374 0
Nanog hESGSE18292 8517496 8517680 184 0
Nanog hESGSE18292 8571617 8571926 309 0
RARA MCF7GSE15244 8625310 8625493 183 0
TFAP2C MCF7GSE21234 8581927 8582407 480 0
TFAP2C MCF7GSE21234 8654037 8654391 354 0
TFAP2C MCF7GSE21234 8656775 8657488 713 0
hScc1 BcellGSE12603 8658834 8659355 521 0
hScc1 BcellGSE12603 8659609 8660543 934 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


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