AutismKB 2.0

Annotation Detail for FRMD1


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Basic Information Top
Gene Symbol:FRMD1 ( DKFZp434O0117,FLJ00181,FLJ22615,FLJ40260,bA164L23.1 )
Gene Full Name: FERM domain containing 1
Band: 6q27
Quick LinksEntrez ID:79981; OMIM: NA; Uniprot ID:FRMD1_HUMAN; ENSEMBL ID: ENSG00000153303; HGNC ID: 21240
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
38Phosphoserine(ATM)HMM predict
75Phosphothreonine(PKC)HMM predict
105Phosphotyrosine(INSR)HMM predict
105Phosphotyrosine(SRC)HMM predict
241Phosphoserine(CDC2)HMM predict
353Phosphotyrosine(EGFR)HMM predict
357SulfotyrosineHMM predict
359PhosphoserineHMM predict
370Phosphoserine(IKK)HMM predict
414Phosphoserine(CK1)HMM predict
430Phosphoserine(CK2)HMM predict
432Phosphoserine(CDC2)HMM predict
432Phosphoserine(ATM)HMM predict
432O-linkedHMM predict
441O-linkedHMM predict
502Phosphoserine(IKK)HMM predict
524Phosphothreonine(PKC)HMM predict
524Phosphothreonine(PKA)HMM predict
533S-farnesylHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_024919
  • Location:chr6 168199335-168222687
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 168223311 168223642 331 789
CTCF G2GSE9613 168223942 168224223 281 1395
CTCF G2GSE9613 168224715 168225112 397 2226
CTCF G2GSE9613 168226183 168226646 463 3727
CTCF G2GSE9613 168227988 168228405 417 5509
CTCF G2GSE9613 168229205 168230346 1141 7088
CTCF G2GSE9613 168231118 168232339 1221 9041
CTCF G2GSE9613 168232906 168233120 214 10326
CTCF G2GSE9613 168233427 168233653 226 10853
CTCF G2GSE9613 168234804 168235662 858 12546
CTCF G2GSE9613 168238930 168239183 253 16369
CTCF G2GSE9613 168239656 168240116 460 17199
CTCF G2GSE9613 168242234 168242472 238 19666
Rb QuiescentGSE19898 168231929 168232081 152 9318
TFAP2C MCF7GSE21234 168231825 168232196 371 9323
TFAP2C MCF7GSE21234 168232610 168233134 524 10185
hScc1 BcellGSE12603 168229456 168230495 1039 7288
hScc1 BcellGSE12603 168231198 168231866 668 8845
hScc1 BcellGSE12603 168233509 168234338 829 11236
hScc1 BcellGSE12603 168240534 168240992 458 18076
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 168196034 168197240 1206 2699
CTCF G2GSE9613 168197643 168197892 249 1568
CTCF G2GSE9613 168198317 168199035 718 660
TFAP2C MCF7GSE21234 168195894 168196471 577 3153
hScc1 BcellGSE12603 168195958 168196973 1015 2870
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP JurkatGSE17954 168220197 168221795 1598 0
CTCF HelaGSE12889 168215170 168215442 272 0
CTCF G2GSE9613 168199584 168202644 3060 0
CTCF G2GSE9613 168203105 168203352 247 0
CTCF G2GSE9613 168204018 168205749 1731 0
CTCF G2GSE9613 168206138 168206734 596 0
CTCF G2GSE9613 168207073 168207925 852 0
CTCF G2GSE9613 168208292 168208855 563 0
CTCF G2GSE9613 168210445 168210836 391 0
CTCF G2GSE9613 168215066 168216149 1083 0
CTCF G2GSE9613 168217521 168217860 339 0
CTCF G2GSE9613 168218900 168219475 575 0
CTCF G2GSE9613 168222235 168222527 292 0
GABP k562GSE8489 168219374 168219869 495 0
GABP k562GSE8489 168220270 168221800 1530 0
TFAP2C MCF7GSE21234 168214679 168215550 871 0
hScc1 BcellGSE12603 168200855 168201934 1079 0
hScc1 BcellGSE12603 168202288 168202614 326 0
hScc1 BcellGSE12603 168203973 168204336 363 0
hScc1 BcellGSE12603 168215511 168215835 324 0
hScc1 BcellGSE12603 168217668 168217860 192 0
hScc1 BcellGSE12603 168222235 168222491 256 0
hScc1 G2GSE9613 168207245 168207925 680 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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