AutismKB 2.0

Annotation Detail for NSFL1C


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Basic Information Top
Gene Symbol:NSFL1C ( MGC3347,UBX1,UBXD10,UBXN2C,dJ776F14.1,p47 )
Gene Full Name: NSFL1 (p97) cofactor (p47)
Band: 20p13
Quick LinksEntrez ID:55968; OMIM: 606610; Uniprot ID:NSF1C_HUMAN; ENSEMBL ID: ENSG00000088833; HGNC ID: 15912
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
74Phosphoserine (By similarity).
114Phosphoserine.
115Nuclear localization signal.
140Phosphoserine.
165Phosphoserine.
167Phosphotyrosine.
175Nuclear localization signal.
176Phosphoserine (By similarity).
272Phosphoserine.
Location(AA) Modifications Resource
74Phosphoserine (By similarity).Swiss-Prot 53.0
114Phosphoserine.Swiss-Prot 53.0
140Phosphoserine (by CDC2) (By similarity).Swiss-Prot 53.0
140Phosphoserine (CDK1)Phospho.ELM 6.0
176Phosphoserine (By similarity).Swiss-Prot 53.0
272Phosphoserine.Swiss-Prot 53.0
272PhosphoserinePhospho.ELM 6.0
Location(AA) Modification Resource
54Phosphoserine(ATM)HMM predict
57O-linkedHMM predict
62O-linkedHMM predict
63MethylarginineHMM predict
114Phosphoserine(PKG)HMM predict
114Phosphoserine(IKK)HMM predict
124MethyllysineHMM predict
127MethyllysineHMM predict
140Phosphoserine(CDK)HMM predict
140Phosphoserine(CDC2)HMM predict
140Phosphoserine(IKK)HMM predict
144O-linkedHMM predict
167Phosphotyrosine(INSR)HMM predict
167Phosphotyrosine(EGFR)HMM predict
167Phosphotyrosine(SRC)HMM predict
177Phosphoserine(ATM)HMM predict
269O-linkedHMM predict
270O-linkedHMM predict
270O-linkedHMM predict
272Phosphoserine(IKK)HMM predict
272Phosphoserine(CDC2)HMM predict
313N-linkedHMM predict
354Phosphothreonine(PKC)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_182483
  • Location:chr20 1370812-1396416
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 1404198 1404517 319 7941
Fos K562GSE19551 1396172 1396882 710 111
NFkBII GM12892GSE19485 1398308 1399608 1300 2542
hScc1 BcellGSE12603 1398292 1398896 604 2178
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 1366023 1366263 240 4670
CTCF CD4SISSRdata 1366023 1366263 240 4670
CTCF G2GSE9613 1352305 1352522 217 18399
CTCF G2GSE9613 1368638 1369086 448 1951
p63 keratinocytesGSE17611 1352784 1353508 724 17667
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 1395434 1395869 435 0
CTCF CD4SISSRdata 1395434 1395869 435 0
CTCF G2GSE9613 1395072 1395826 754 0
ETS1 JurkatGSE17954 1394999 1395901 902 0
H3ac HepG2E 1393724 1394180 456 0
H3ac HepG2E 1394635 1394942 307 0
NFkBII GM10847GSE19485 1394935 1396199 1264 0
NFkBII GM12892GSE19485 1394762 1396188 1426 0
NFkBII GM18526GSE19485 1394983 1396212 1229 0
Rb GrowingGSE19898 1394416 1394575 159 0
Rb GrowingGSE19898 1395427 1395538 111 0
TAFII hESGSE17917 1395396 1395713 317 0
VDR GM10855-UnstimGSE22484 1394912 1396227 1315 0
hScc1 BcellGSE12603 1394635 1395826 1191 0
p130 SenescentGSE19898 1394917 1395333 416 0
p130 shRbSenescentGSE19898 1395125 1395437 312 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