AutismKB 2.0

Annotation Detail for NFASC


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Basic Information Top
Gene Symbol:NFASC ( DKFZp686P2250,FLJ46866,KIAA0756,NF,NRCAML )
Gene Full Name: neurofascin
Band: 1q32.1
Quick LinksEntrez ID:23114; OMIM: 609145; Uniprot ID:NFASC_HUMAN; ENSEMBL ID: ENSG00000163531; HGNC ID: 29866
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
305N-linked (GlcNAc...) (Potential).
409N-linked (GlcNAc...).
446N-linked (GlcNAc...) (Potential).
471Phosphoserine.
481Phosphotyrosine.
483N-linked (GlcNAc...) (Potential).
485Phosphoserine.
752N-linked (GlcNAc...) (Potential).
778N-linked (GlcNAc...) (Potential).
973N-linked (GlcNAc...) (Potential).
988N-linked (GlcNAc...) (Potential).
1333Phosphoserine (By similarity).
1334Phosphoserine (By similarity).
Location(AA) Modifications Resource
305N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
409N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
446N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
483N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
752N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
778N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
973N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
988N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1333Phosphoserine (By similarity).Swiss-Prot 53.0
1334Phosphoserine (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
38O-linkedHMM predict
42O-linkedHMM predict
98Phosphothreonine(PKA)HMM predict
112Phosphotyrosine(Syk)HMM predict
112SulfotyrosineHMM predict
112Phosphotyrosine(INSR)HMM predict
139Phosphoserine(CDC2)HMM predict
243Phosphothreonine(MAPK)HMM predict
305N-linkedHMM predict
311PhosphoserineHMM predict
314Phosphotyrosine(INSR)HMM predict
409N-linkedHMM predict
412N-linkedHMM predict
416Phosphotyrosine(INSR)HMM predict
446N-linkedHMM predict
457Phosphoserine(CDC2)HMM predict
461Phosphothreonine(PKC)HMM predict
499Phosphotyrosine(INSR)HMM predict
537Phosphothreonine(PKA)HMM predict
537Phosphothreonine(PKC)HMM predict
538Phosphothreonine(PKA)HMM predict
615Phosphothreonine(MAPK)HMM predict
654N-linkedHMM predict
655N-linkedHMM predict
693Phosphoserine(CDC2)HMM predict
722Phosphothreonine(PKC)HMM predict
723O-linkedHMM predict
752N-linkedHMM predict
772Phosphothreonine(PKA)HMM predict
772Phosphothreonine(PKA)HMM predict
778N-linkedHMM predict
791Phosphothreonine(MAPK)HMM predict
794Phosphotyrosine(SRC)HMM predict
830Phosphothreonine(PKC)HMM predict
838N-linkedHMM predict
885Phosphoserine(IKK)HMM predict
922Phosphothreonine(PKC)HMM predict
927Phosphothreonine(CDC2)HMM predict
973N-linkedHMM predict
984N-linkedHMM predict
988N-linkedHMM predict
1006Phosphothreonine(PKA)HMM predict
1020Phosphothreonine(PKC)HMM predict
1023Phosphoserine(CDK)HMM predict
1031Phosphothreonine(MAPK)HMM predict
1031O-linkedHMM predict
1033O-linkedHMM predict
1038O-linkedHMM predict
1042O-linkedHMM predict
1047O-linkedHMM predict
1051O-linkedHMM predict
1052O-linkedHMM predict
1053O-linkedHMM predict
1053O-linkedHMM predict
1056O-linkedHMM predict
1061O-linkedHMM predict
1065O-linkedHMM predict
1072O-linkedHMM predict
1080O-linkedHMM predict
1090O-linkedHMM predict
1091O-linkedHMM predict
1096O-linkedHMM predict
1097O-linkedHMM predict
1100O-linkedHMM predict
1100Phosphoserine(IKK)HMM predict
1100O-linkedHMM predict
1104O-linkedHMM predict
1105O-linkedHMM predict
1122N-linkedHMM predict
1128N-linkedHMM predict
1133N-linkedHMM predict
1139N-linkedHMM predict
1154N-linkedHMM predict
1198O-linkedHMM predict
1205Phosphotyrosine(INSR)HMM predict
1270Phosphotyrosine(INSR)HMM predict
1270SulfotyrosineHMM predict
1281Phosphoserine(IKK)HMM predict
1284Phosphoserine(IKK)HMM predict
1297Phosphoserine(CK1)HMM predict
1301SulfotyrosineHMM predict
1331N-linkedHMM predict
1334O-linkedHMM predict
1338Phosphoserine(CDC2)HMM predict
1345SerineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_015090
  • Location:chr1 203064445-203258571
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF JurkatGSE12889 203062768 203063024 256 1550
CTCF G2GSE9613 203062581 203062863 282 1724
SRF GMOGSE8489 203062014 203062506 492 2186
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 203265359 203265538 179 6877
CTCF G2GSE9613 203267896 203268255 359 9504
KLF4 hESGSE17917 203262546 203262709 163 4056
hScc1 BcellGSE12603 203267896 203268567 671 9660
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 203211486 203211795 309 0
CTCF CD4GSE12889 203225156 203225428 272 0
CTCF CD4SISSRdata 203211486 203211795 309 0
CTCF CD4SISSRdata 203225156 203225428 272 0
CTCF G2GSE9613 203119062 203119500 438 0
CTCF G2GSE9613 203156939 203157168 229 0
CTCF G2GSE9613 203177395 203177910 515 0
CTCF G2GSE9613 203211351 203212020 669 0
CTCF G2GSE9613 203225001 203225469 468 0
CTCF G2GSE9613 203226585 203226872 287 0
CTCF G2GSE9613 203227140 203227393 253 0
CTCF G2GSE9613 203232570 203233251 681 0
CTCF G2GSE9613 203242246 203242601 355 0
CTCF G2GSE9613 203246680 203246884 204 0
CTCF G2GSE9613 203250787 203251528 741 0
FOXA1 MCF7GSE15244 203159960 203160566 606 0
H3K27me3 colorectalcancer 203065848 203066711 863 0
H3ac HepG2E 203084732 203084945 213 0
KLF4 hESGSE17917 203159826 203160092 266 0
Myc K562GSE19551 203177476 203177922 446 0
NRSF JurkatGSE13047 203072437 203074493 2056 0
NRSF mAbJurkat 203065207 203066711 1504 0
NRSF mAbJurkat 203067016 203068891 1875 0
NRSF mAbJurkat 203069754 203070935 1181 0
NRSF mAbJurkat 203071295 203075790 4495 0
NRSF mAbJurkat 203076180 203078793 2613 0
NRSF-mono JurkatQuESTdata 203072436 203073954 1518 0
NRSF-mono JurkatQuESTdata 203075590 203076039 449 0
NRSF-poly JurkatQuESTdata 203072440 203074241 1801 0
Nanog hESGSE18292 203239320 203239564 244 0
Oct4 hESGSE17917 203177416 203177820 404 0
RARA MCF7GSE15244 203159995 203160566 571 0
RARA MCF7GSE15244 203234237 203235810 1573 0
RARA MCF7GSE15244 203238879 203240711 1832 0
Rb shRbQuiescentGSE19898 203241204 203241458 254 0
SRF HepG2GSE8489 203191350 203191868 518 0
TFAP2C MCF7GSE21234 203066452 203066940 488 0
TFAP2C MCF7GSE21234 203101932 203102545 613 0
TFAP2C MCF7GSE21234 203212282 203212938 656 0
TFAP2C MCF7GSE21234 203238911 203240181 1270 0
hScc1 BcellGSE12603 203064406 203065044 638 0
hScc1 BcellGSE12603 203211351 203211833 482 0
hScc1 BcellGSE12603 203224960 203225438 478 0
hScc1 CdLSGSE12603 203211259 203212092 833 0
hScc1 CdLSGSE12603 203224852 203225549 697 0
hScc1 G2GSE9613 203225001 203225469 468 0
p63 keratinocytesGSE17611 203151261 203152353 1092 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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