AutismKB 2.0

Annotation Detail for FRAS1


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Basic Information Top
Gene Symbol:FRAS1 ( DKFZp686I05113,DKFZp686P08111,FLJ14927,FLJ22031,KIAA1500 )
Gene Full Name: Fraser syndrome 1
Band: 4q21.21
Quick LinksEntrez ID:80144; OMIM: 607830; Uniprot ID:FRAS1_HUMAN; ENSEMBL ID: ENSG00000138759; HGNC ID: 19185
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
361N-linked (GlcNAc...) (Potential).
728N-linked (GlcNAc...) (Potential).
1092N-linked (GlcNAc...) (Potential).
1107N-linked (GlcNAc...) (Potential).
1503N-linked (GlcNAc...) (Potential).
1776N-linked (GlcNAc...) (Potential).
1947N-linked (GlcNAc...) (Potential).
1977N-linked (GlcNAc...) (Potential).
2562N-linked (GlcNAc...) (Potential).
2663N-linked (GlcNAc...) (Potential).
2681N-linked (GlcNAc...) (Potential).
2907N-linked (GlcNAc...) (Potential).
2984N-linked (GlcNAc...) (Potential).
3069N-linked (GlcNAc...) (Potential).
3217N-linked (GlcNAc...) (Potential).
3675N-linked (GlcNAc...) (Potential).
3874N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
361N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
728N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1092N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1107N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1503N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1776N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1947N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1977N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2562N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2663N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2681N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2907N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2984N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
3069N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
3217N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
3675N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
3874N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
113S-palmitoylHMM predict
114Phosphoserine(IKK)HMM predict
126O-linkedHMM predict
152S-palmitoylHMM predict
280Phosphoserine(CDC2)HMM predict
280Phosphoserine(IKK)HMM predict
351Phosphotyrosine(Syk)HMM predict
361N-linkedHMM predict
413S-palmitoylHMM predict
429Phosphoserine(ATM)HMM predict
468S-palmitoylHMM predict
477Phosphoserine(IKK)HMM predict
520S-palmitoylHMM predict
614Phosphoserine(IKK)HMM predict
616O-linkedHMM predict
619O-linkedHMM predict
621O-linkedHMM predict
655S-palmitoylHMM predict
728N-linkedHMM predict
745Phosphoserine(IKK)HMM predict
757Phosphoserine(IKK)HMM predict
761S-palmitoylHMM predict
862Phosphoserine(IKK)HMM predict
877Phosphoserine(IKK)HMM predict
893O-linkedHMM predict
915Phosphoserine(IKK)HMM predict
918Phosphoserine(IKK)HMM predict
921Phosphoserine(IKK)HMM predict
924Phosphoserine(IKK)HMM predict
939Phosphotyrosine(Syk)HMM predict
947Phosphotyrosine(EGFR)HMM predict
947Phosphotyrosine(Syk)HMM predict
965S-palmitoylHMM predict
966O-linkedHMM predict
1092N-linkedHMM predict
1096O-linkedHMM predict
1107N-linkedHMM predict
1270Phosphoserine(CDC2)HMM predict
1276SulfotyrosineHMM predict
1295Phosphoserine(CK1)HMM predict
1299Phosphoserine(CK1)HMM predict
1403Phosphothreonine(MAPK)HMM predict
1405O-linkedHMM predict
1407O-linkedHMM predict
1459Phosphothreonine(CDC2)HMM predict
1503N-linkedHMM predict
1606O-linkedHMM predict
1606Phosphoserine(CDC2)HMM predict
1610O-linkedHMM predict
1661Phosphotyrosine(Syk)HMM predict
1677Phosphoserine(CK2)HMM predict
1678Phosphothreonine(PKC)HMM predict
1705Phosphoserine(CK1)HMM predict
1721O-linkedHMM predict
1772Phosphoserine(CK1)HMM predict
1776N-linkedHMM predict
1807Phosphoserine(ATM)HMM predict
1915SulfotyrosineHMM predict
1987Phosphothreonine(MAPK)HMM predict
2075Phosphoserine(ATM)HMM predict
2152Phosphoserine(ATM)HMM predict
2159O-linkedHMM predict
2189Phosphoserine(CK1)HMM predict
2197Phosphoserine(ATM)HMM predict
2229O-linkedHMM predict
2252Phosphoserine(MAPK)HMM predict
2275PhosphoserineHMM predict
2290Phosphoserine(ATM)HMM predict
2341Phosphothreonine(CK2)HMM predict
2597O-linkedHMM predict
2598O-linkedHMM predict
2599Phosphoserine(CK1)HMM predict
2599Phosphoserine(ATM)HMM predict
2599Phosphoserine(IKK)HMM predict
2606Phosphotyrosine(Syk)HMM predict
2623Phosphoserine(IKK)HMM predict
2663N-linkedHMM predict
2746Phosphoserine(IKK)HMM predict
2756Phosphoserine(CK2)HMM predict
2758Phosphotyrosine(EGFR)HMM predict
2758Phosphotyrosine(INSR)HMM predict
2758Phosphotyrosine(Syk)HMM predict
2758SulfotyrosineHMM predict
2811Phosphothreonine(PKC)HMM predict
2842Phosphothreonine(MAPK)HMM predict
2875Phosphotyrosine(Syk)HMM predict
2907N-linkedHMM predict
2984N-linkedHMM predict
3029Phosphoserine(CK2)HMM predict
3044Phosphotyrosine(SRC)HMM predict
3044Phosphotyrosine(Jak)HMM predict
3069N-linkedHMM predict
3124Phosphoserine(CK1)HMM predict
3146O-linkedHMM predict
3184Phosphoserine(CDC2)HMM predict
3186Phosphoserine(CDC2)HMM predict
3217N-linkedHMM predict
3238Phosphoserine(CDC2)HMM predict
3247O-linkedHMM predict
3283Phosphothreonine(CDK)HMM predict
3396Phosphotyrosine(Syk)HMM predict
3439Phosphotyrosine(Syk)HMM predict
3440SulfotyrosineHMM predict
3601Phosphotyrosine(INSR)HMM predict
3601SulfotyrosineHMM predict
3675N-linkedHMM predict
3680Phosphoserine(IKK)HMM predict
3728Phosphotyrosine(EGFR)HMM predict
3745Phosphotyrosine(INSR)HMM predict
3838Phosphoserine(IKK)HMM predict
3865Phosphotyrosine(INSR)HMM predict
3865SulfotyrosineHMM predict
3874N-linkedHMM predict
3877N-linkedHMM predict
3893Phosphoserine(IKK)HMM predict
3895Phosphoserine(ATM)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_025074
  • Location:chr4 79198119-79684446
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 79196838 79197041 203 1180
CTCF G2GSE9613 79197495 79198185 690 280
H3K4me3 colorectalcancer 79196790 79197921 1131 764
H3ac HepG2E 79196627 79199178 2551 217
PHF8 293TGSE20725 79196368 79197842 1474 1015
USF1 HepG2E 79195998 79198618 2620 812
USF2 HepG2E 79196376 79197382 1006 1241
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
P300 T0-glioblastomaGSE21026 79684451 79685365 914 462
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 79199629 79200166 537 0
CTCF G2GSE9613 79207614 79207788 174 0
CTCF G2GSE9613 79338168 79338403 235 0
CTCF G2GSE9613 79375596 79375818 222 0
CTCF G2GSE9613 79426493 79426708 215 0
CTCF G2GSE9613 79454697 79454844 147 0
CTCF G2GSE9613 79504013 79504262 249 0
CTCF G2GSE9613 79531131 79531449 318 0
CTCF G2GSE9613 79562979 79563294 315 0
CTCF G2GSE9613 79594367 79594721 354 0
CTCF G2GSE9613 79621767 79621976 209 0
CTCF G2GSE9613 79647067 79647208 141 0
CTCF G2GSE9613 79657116 79657368 252 0
CTCF G2GSE9613 79664051 79664253 202 0
CTCF G2GSE9613 79669113 79669293 180 0
ER Fulvestrant-MCF7GSE14664 79473719 79473759 40 0
ER MCF7GSE19013 79450856 79451338 482 0
ETS1 JurkatGSE17954 79322139 79322695 556 0
FOXA1 MCF7GSE15244 79325258 79325767 509 0
FOXA1 eGFPGSE10845 79325258 79325767 509 0
FoxA1 MCF7MACSdata 79325364 79325570 206 0
FoxA1 MCF7MACSdata 79350093 79350311 218 0
Nanog ESGSE20650 79509709 79510298 589 0
Oct1 H2O2-HelaGSE14283 79264304 79264335 31 0
Oct1 H2O2-HelaGSE14283 79290464 79290495 31 0
Oct1 H2O2-HelaGSE14283 79615356 79615385 29 0
Oct1 H2O2-HelaGSE14283 79670271 79670302 31 0
Oct1 HelaGSE14283 79264306 79264335 29 0
Oct1 HelaGSE14283 79290447 79290495 48 0
Oct1 HelaGSE14283 79290526 79290569 43 0
Oct1 HelaGSE14283 79377064 79377119 55 0
Oct1 HelaGSE14283 79431353 79431384 31 0
Oct1 HelaGSE14283 79473687 79473727 40 0
Oct1 HelaGSE14283 79475170 79475208 38 0
Oct1 HelaGSE14283 79475705 79475775 70 0
Oct1 HelaGSE14283 79554527 79554592 65 0
Oct1 HelaGSE14283 79599952 79599981 29 0
Oct1 HelaGSE14283 79615357 79615386 29 0
Oct1 HelaGSE14283 79670276 79670308 32 0
Oct4 hESGSE17917 79289933 79290349 416 0
P300 T0-glioblastomaGSE21026 79660783 79661625 842 0
P300 T30-glioblastomaGSE21026 79322126 79322453 327 0
TFAP2C MCF7GSE21234 79221614 79222121 507 0
TFAP2C MCF7GSE21234 79316552 79317286 734 0
hScc1 BcellGSE12603 79199629 79200029 400 0
hScc1 G2GSE9613 79199629 79200201 572 0
p63 keratinocytesGSE17611 79202051 79203445 1394 0
p63 keratinocytesGSE17611 79387591 79388780 1189 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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