AutismKB 2.0

Annotation Detail for LRRFIP1


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Basic Information Top
Gene Symbol:LRRFIP1 ( FLAP-1,FLIIAP1,GCF-2,GCF2,HUFI-1,MGC10947,MGC119738,MGC119739,TRIP )
Gene Full Name: leucine rich repeat (in FLII) interacting protein 1
Band: 2q37.3
Quick LinksEntrez ID:9208; OMIM: 603256; Uniprot ID:LRRF1_HUMAN; ENSEMBL ID: ENSG00000124831; HGNC ID: 6702
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
16Phosphoserine.
115Phosphoserine.
116Phosphoserine.
120Phosphoserine.
123Phosphothreonine (By similarity).
124Phosphoserine.
295Phosphothreonine.
521Phosphoserine.
581Phosphoserine.
618Phosphoserine.
638Phosphoserine.
676Phosphothreonine.
711Phosphothreonine.
713Phosphoserine.
714Phosphoserine.
733Phosphoserine.
Location(AA) Modifications Resource
16Phosphoserine.Swiss-Prot 53.0
123Phosphothreonine (By similarity).Swiss-Prot 53.0
521Phosphoserine.Swiss-Prot 53.0
521PhosphoserinePhospho.ELM 6.0
714Phosphoserine.Swiss-Prot 53.0
714PhosphoserinePhospho.ELM 6.0
733Phosphoserine.Swiss-Prot 53.0
Location(AA) Modification Resource
64N-linkedHMM predict
65Phosphothreonine(PKA)HMM predict
66Phosphoserine(PKA)HMM predict
66Phosphoserine(PKB)HMM predict
68Phosphoserine(CK2)HMM predict
68PhosphoserineHMM predict
120Phosphoserine(CAMK2)HMM predict
120Phosphoserine(CK2)HMM predict
120Phosphoserine(PKG)HMM predict
120Phosphoserine(PKC)HMM predict
120Phosphoserine(PKA)HMM predict
120Phosphoserine(IKK)HMM predict
163Phosphoserine(PKG)HMM predict
351Phosphoserine(IKK)HMM predict
351Phosphoserine(CK2)HMM predict
351Phosphoserine(CK1)HMM predict
351PhosphoserineHMM predict
361O-linkedHMM predict
380Phosphoserine(CK1)HMM predict
403Phosphothreonine(MAPK)HMM predict
403Phosphothreonine(CDK)HMM predict
418N-linkedHMM predict
422N-linkedHMM predict
429Phosphothreonine(PKC)HMM predict
451Phosphotyrosine(Syk)HMM predict
467Phosphoserine(CK1)HMM predict
492Phosphothreonine(CDK)HMM predict
521Phosphoserine(IKK)HMM predict
521O-linkedHMM predict
521Phosphoserine(CDC2)HMM predict
555Phosphoserine(CK1)HMM predict
565Phosphoserine(ATM)HMM predict
581PhosphoserineHMM predict
581Phosphoserine(CDC2)HMM predict
587Phosphothreonine(PKC)HMM predict
714Phosphoserine(CDC2)HMM predict
714Phosphoserine(IKK)HMM predict
735Phosphoserine(ATM)HMM predict
735Phosphoserine(CK1)HMM predict
747Phosphothreonine(PKC)HMM predict
757Phosphoserine(ATM)HMM predict
759Phosphothreonine(PKC)HMM predict
768Phosphoserine(CK1)HMM predict
805S-farnesylHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_004735
  • Location:chr2 238265667-238338643
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 238246432 238247569 1137 18667
CTCF G2GSE9613 238260069 238260380 311 5443
Jun K562GSE19551 238251370 238251701 331 14132
P300 T30-glioblastomaGSE21026 238260743 238261692 949 4450
Rb shRbQuiescentGSE19898 238261463 238261726 263 4073
hScc1 BcellGSE12603 238246324 238247530 1206 18741
hScc1 CdLSGSE12603 238246288 238247243 955 18902
hScc1 G2GSE9613 238246396 238247530 1134 18705
p130 QuiescentGSE19898 238261028 238261389 361 4459
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 238348158 238348504 346 9688
CTCF CD4SISSRdata 238348158 238348504 346 9688
CTCF HelaGSE12889 238348123 238348533 410 9685
CTCF JurkatGSE12889 238348183 238348450 267 9673
CTCF G2GSE9613 238348049 238348734 685 9748
FOXA1 MCF7GSE15244 238347944 238348849 905 9753
Myc K562GSE19551 238348127 238348498 371 9669
hScc1 BcellGSE12603 238348123 238348438 315 9637
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 238318475 238318745 270 0
CTCF CD4SISSRdata 238318475 238318745 270 0
CTCF HelaGSE12889 238318323 238318685 362 0
CTCF G2GSE9613 238265503 238266157 654 0
CTCF G2GSE9613 238267073 238267348 275 0
CTCF G2GSE9613 238284956 238285129 173 0
CTCF G2GSE9613 238310250 238310518 268 0
CTCF G2GSE9613 238318164 238318706 542 0
CTCF G2GSE9613 238332736 238332872 136 0
Fos K562GSE19551 238276289 238276725 436 0
H3K4me2 HCT116GSE10453 238267721 238267978 257 0
H3K4me3 colorectalcancer 238266497 238267348 851 0
H3ac HepG2E 238266081 238267348 1267 0
H3ac HepG2E 238267721 238268898 1177 0
H3ac HepG2E 238288392 238289124 732 0
H3ac HepG2E 238306067 238307468 1401 0
Myc hESGSE17917 238279565 238279937 372 0
NFkBII GM12878GSE19485 238325700 238327217 1517 0
NFkBII GM12892GSE19485 238325753 238327028 1275 0
RARA MCF7GSE15244 238316906 238318093 1187 0
TAF HelaGSE8489 238266081 238267348 1267 0
TAF k562GSE8489 238266596 238267329 733 0
TAF k562GSE8489 238336106 238337454 1348 0
TFAP2C MCF7GSE21234 238296929 238297351 422 0
TFAP2C MCF7GSE21234 238302547 238302981 434 0
TFAP2C MCF7GSE21234 238304904 238305455 551 0
hScc1 BcellGSE12603 238265503 238265894 391 0
hScc1 BcellGSE12603 238318275 238318849 574 0
hScc1 CdLSGSE12603 238318022 238319242 1220 0
hScc1 G2GSE9613 238265503 238266157 654 0
hScc1 G2GSE9613 238303816 238303989 173 0
p130 QuiescentGSE19898 238306288 238306527 239 0
p130 shRbSenescentGSE19898 238316912 238317200 288 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-1 hsa-mir-1-2 18 20959496
hsa-miR-1 hsa-mir-1-1 20 20959496
hsa-miR-133a hsa-mir-133a-1 18 20959496
hsa-miR-133a hsa-mir-133a-2 20 20959496
hsa-miR-133b hsa-mir-133b 6 20959496
hsa-miR-21 hsa-mir-21 17 20959496
hsa-miR-21 hsa-mir-21 17 19559015
hsa-miR-21* hsa-mir-21 17 20959496
hsa-miR-21* hsa-mir-21 17 19559015
hsa-miR-29a hsa-mir-29a 7 20959496
hsa-miR-29a* hsa-mir-29a 7 20959496
hsa-miR-29b hsa-mir-29b-1 7 20959496
hsa-miR-29b hsa-mir-29b-2 1 20959496
hsa-miR-29b-1* hsa-mir-29b-1 7 20959496
hsa-miR-29b-2* hsa-mir-29b-2 1 20959496
hsa-miR-29c hsa-mir-29c 1 20959496
hsa-miR-29c* hsa-mir-29c 1 20959496
hsa-miR-92a hsa-mir-92a-1 13 20959496
hsa-miR-92a hsa-mir-92a-2 X 20959496
No data
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
15859 mRNA LRRFIP1 chr2 238382928 238455906 1324 HTC chr2 238454582 238456103Sense/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


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