AutismKB 2.0

Annotation Detail for FRMD6


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:FRMD6 ( C14orf31,EX1,MGC17921,Willin,c14_5320 )
Gene Full Name: FERM domain containing 6
Band: 14q22.1
Quick LinksEntrez ID:122786; OMIM: NA; Uniprot ID:FRMD6_HUMAN; ENSEMBL ID: ENSG00000139926; HGNC ID: 19839
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
412Phosphotyrosine.
522Phosphoserine (By similarity).
525Phosphoserine (By similarity).
542Phosphoserine (By similarity).
544Phosphoserine.
Location(AA) Modifications Resource
522Phosphoserine (By similarity).Swiss-Prot 53.0
525Phosphoserine (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
69Phosphotyrosine(SRC)HMM predict
69Phosphotyrosine(INSR)HMM predict
69Phosphotyrosine(Syk)HMM predict
131SulfotyrosineHMM predict
219Phosphotyrosine(Jak)HMM predict
219Phosphotyrosine(Jak)HMM predict
324Phosphotyrosine(INSR)HMM predict
346Phosphotyrosine(EGFR)HMM predict
352PhosphoserineHMM predict
369Phosphoserine(PKG)HMM predict
369Phosphoserine(CK2)HMM predict
371Phosphoserine(IKK)HMM predict
388O-linkedHMM predict
413Phosphoserine(CK1)HMM predict
413Phosphoserine(CK2)HMM predict
429O-linkedHMM predict
436Phosphoserine(IKK)HMM predict
436O-linkedHMM predict
506Phosphoserine(CK2)HMM predict
506Phosphoserine(CK1)HMM predict
508O-linkedHMM predict
509O-linkedHMM predict
510Phosphoserine(CK1)HMM predict
511Phosphoserine(CK1)HMM predict
512Phosphoserine(CK1)HMM predict
512O-linkedHMM predict
514Phosphothreonine(PKC)HMM predict
525Phosphoserine(CK1)HMM predict
525Phosphoserine(IKK)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001042481
  • Location:chr14 51025604-51267191
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Nanog ESGSE20650 51010673 51011106 433 14715
Oct1 H2O2-HelaGSE14283 51024692 51024722 30 898
Oct1 HelaGSE14283 51024691 51024719 28 900
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 51083345 51084507 1162 0
CBP T30-glioblastomaGSE21026 51090784 51091616 832 0
ER E2-MCF7GSE14664 51137924 51137968 44 0
ER E2-MCF7GSE14664 51140505 51140543 38 0
ER E2-MCF7GSE14664 51141545 51141577 32 0
ER Fulvestrant-MCF7GSE14664 51140505 51140540 35 0
Myc K562GSE19551 51146409 51146628 219 0
Oct1 H2O2-HelaGSE14283 51040403 51040453 50 0
Oct1 H2O2-HelaGSE14283 51048602 51048630 28 0
Oct1 H2O2-HelaGSE14283 51161990 51162027 37 0
Oct1 H2O2-HelaGSE14283 51162841 51162870 29 0
Oct1 HelaGSE14283 51027888 51027932 44 0
Oct1 HelaGSE14283 51028064 51028091 27 0
Oct1 HelaGSE14283 51030534 51030570 36 0
Oct1 HelaGSE14283 51040413 51040454 41 0
Oct1 HelaGSE14283 51097201 51097277 76 0
Oct1 HelaGSE14283 51108804 51108838 34 0
Oct1 HelaGSE14283 51116400 51116437 37 0
Oct1 HelaGSE14283 51128201 51128242 41 0
Oct1 HelaGSE14283 51140508 51140547 39 0
Oct1 HelaGSE14283 51161990 51162024 34 0
Oct1 HelaGSE14283 51162842 51162874 32 0
Oct1 HelaGSE14283 51168023 51168051 28 0
P300 T30-glioblastomaGSE21026 51083102 51084512 1410 0
P300 T30-glioblastomaGSE21026 51090556 51091428 872 0
P300 T30-glioblastomaGSE21026 51153228 51154182 954 0
PHF8 HeLaGSE20725 51187521 51188977 1456 0
RARA MCF7GSE15244 51070647 51071617 970 0
RARA MCF7GSE15244 51100762 51102268 1506 0
RARA MCF7GSE15244 51152666 51153958 1292 0
RARG MCF7GSE15244 51070971 51071617 646 0
RARG MCF7GSE15244 51100918 51102268 1350 0
RARG MCF7GSE15244 51153103 51153958 855 0
RARG MCF7GSE15244 51174762 51175097 335 0
RARG MCF7GSE15244 51187157 51187435 278 0
RNAII Tamoxifen-MCF7GSE14664 51040411 51040454 43 0
STAT1 HeLaGSE12783 51172128 51173590 1462 0
STAT1 IFNSISSRdata 51172305 51173511 1206 0
TAF HelaGSE8489 51187157 51187305 148 0
TFAP2C MCF7GSE21234 51070972 51071647 675 0
TFAP2C MCF7GSE21234 51100811 51102325 1514 0
TFAP2C MCF7GSE21234 51187744 51188291 547 0
hScc1 BcellGSE12603 51091489 51091929 440 0
hScc1 CdLSGSE12603 51091489 51091959 470 0
p130 shRbSenescentGSE19898 51063113 51063246 133 0
p130 shRbSenescentGSE19898 51187750 51188123 373 0
Validated miRNA targets Top
Cis-Nats regulation Top
Cluster ID Plue Type Plus Gene Name Plus Chromosome Plus Start Plus End Overlap Length Minus Type Minus Gene Name Minus Chromosome Minus Star Minus End Type
7897 mRNA C14orf31 chr14 51188377 51266922 762 EST chr14 51266034 51266796Sense/Antisense (SA) pairs

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