AutismKB 2.0

Annotation Detail for AMZ1


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Basic Information Top
Gene Symbol:AMZ1 ( KIAA1950 )
Gene Full Name: archaelysin family metallopeptidase 1
Band: 7p22.3
Quick LinksEntrez ID:155185; OMIM: NA; Uniprot ID:AMZ1_HUMAN; ENSEMBL ID: ENSG00000174945; HGNC ID: 22231
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
37Phosphoserine(CDC2)HMM predict
343Phosphothreonine(MAPK)HMM predict
343PhosphothreonineHMM predict
358O-linkedHMM predict
369Phosphothreonine(MAPK)HMM predict
465MethyllysineHMM predict
470MethyllysineHMM predict
479Phosphoserine(PKG)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_133463
  • Location:chr7 2685688-2721594
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 2682794 2682985 191 2799
CTCF G2GSE9613 2685246 2685881 635 125
TFAP2C MCF7GSE21234 2682622 2683402 780 2677
hScc1 G2GSE9613 2685246 2685803 557 164
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP JurkatGSE17954 2726618 2727854 1236 5642
CBP T30-glioblastomaGSE21026 2726612 2727767 1155 5595
CTCF CD4GSE12889 2725161 2725413 252 3693
CTCF CD4SISSRdata 2725161 2725413 252 3693
CTCF G2GSE9613 2722644 2722982 338 1219
CTCF G2GSE9613 2724228 2725663 1435 3351
CTCF G2GSE9613 2727153 2727572 419 5768
P300 T30-glioblastomaGSE21026 2726560 2727685 1125 5528
TFAP2C MCF7GSE21234 2726734 2727568 834 5557
hScc1 CdLSGSE12603 2724893 2725491 598 3598
hScc1 G2GSE9613 2727153 2727572 419 5768
p130 SenescentGSE19898 2727093 2727284 191 5594
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 2687154 2687329 175 0
CTCF CD4GSE12889 2715808 2716205 397 0
CTCF CD4SISSRdata 2687154 2687329 175 0
CTCF CD4SISSRdata 2715808 2716205 397 0
CTCF HelaGSE12889 2687091 2687305 214 0
CTCF JurkatGSE12889 2715955 2716147 192 0
CTCF G2GSE9613 2686274 2687353 1079 0
CTCF G2GSE9613 2688455 2689283 828 0
CTCF G2GSE9613 2693517 2693960 443 0
CTCF G2GSE9613 2694239 2694843 604 0
CTCF G2GSE9613 2698151 2698387 236 0
CTCF G2GSE9613 2698735 2699211 476 0
CTCF G2GSE9613 2701307 2701562 255 0
CTCF G2GSE9613 2707065 2707207 142 0
CTCF G2GSE9613 2707611 2708035 424 0
CTCF G2GSE9613 2708759 2709278 519 0
CTCF G2GSE9613 2714427 2714676 249 0
CTCF G2GSE9613 2714974 2716530 1556 0
CTCF G2GSE9613 2717119 2717473 354 0
CTCF G2GSE9613 2718260 2718983 723 0
CTCF G2GSE9613 2719417 2719704 287 0
ER MCF7GSE19013 2695193 2695772 579 0
H3K27me3 colorectalcancer 2705023 2705354 331 0
Myc K562GSE19551 2686988 2687410 422 0
NFkBII GM10847GSE19485 2714888 2717863 2975 0
NFkBII GM12878GSE19485 2694583 2696762 2179 0
NFkBII GM12878GSE19485 2704779 2705917 1138 0
NFkBII GM12878GSE19485 2715430 2718121 2691 0
NFkBII GM12892GSE19485 2704546 2706006 1460 0
NFkBII GM15510GSE19485 2714918 2717915 2997 0
P300 T0-glioblastomaGSE21026 2696073 2696634 561 0
Rb shRbQuiescentGSE19898 2693581 2693782 201 0
TAFII hESGSE17917 2687093 2687381 288 0
TFAP2C MCF7GSE21234 2694875 2696128 1253 0
hScc1 BcellGSE12603 2686421 2687353 932 0
hScc1 BcellGSE12603 2688919 2689283 364 0
hScc1 BcellGSE12603 2694133 2694765 632 0
hScc1 BcellGSE12603 2705023 2705354 331 0
hScc1 BcellGSE12603 2715705 2716253 548 0
hScc1 CdLSGSE12603 2694239 2695649 1410 0
hScc1 CdLSGSE12603 2715668 2716851 1183 0
hScc1 G2GSE9613 2686346 2687353 1007 0
hScc1 G2GSE9613 2698735 2699211 476 0
hScc1 G2GSE9613 2708759 2709257 498 0
hScc1 G2GSE9613 2715705 2716530 825 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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