AutismKB 2.0

Annotation Detail for SCNN1G


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Basic Information Top
Gene Symbol:SCNN1G ( BESC3,ENaCg,ENaCgamma,PHA1,SCNEG )
Gene Full Name: sodium channel, nonvoltage-gated 1, gamma
Band: 16p12.2
Quick LinksEntrez ID:6340; OMIM: 600761; Uniprot ID:SCNNG_HUMAN; ENSEMBL ID: ENSG00000166828; HGNC ID: 10602
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
209N-linked (GlcNAc...) (Potential).
248N-linked (GlcNAc...) (Potential).
271N-linked (GlcNAc...) (Potential).
291N-linked (GlcNAc...) (Potential).
497N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
209N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
248N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
271N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
291N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
497N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
109Phosphothreonine(PKC)HMM predict
209N-linkedHMM predict
212Phosphoserine(CK2)HMM predict
234Phosphotyrosine(INSR)HMM predict
271N-linkedHMM predict
291N-linkedHMM predict
317Phosphotyrosine(Syk)HMM predict
317Phosphotyrosine(EGFR)HMM predict
337SulfotyrosineHMM predict
370Phosphoserine(IKK)HMM predict
497N-linkedHMM predict
587Phosphoserine(CDC2)HMM predict
587Phosphoserine(IKK)HMM predict
622Phosphothreonine(CDK)HMM predict
622Phosphothreonine(CDC2)HMM predict
622Phosphothreonine(MAPK)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001039
  • Location:chr16 23101540-23135700
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 23101249 23101492 243 170
CTCF CD4SISSRdata 23101249 23101492 243 170
CTCF G2GSE9613 23101108 23101324 216 325
Myc K562GSE19551 23101141 23101497 356 222
Myc hESGSE17917 23101052 23101487 435 271
NRSF JurkatGSE13047 23093151 23094278 1127 7826
NRSF JurkatSISSRdata 23093470 23093775 305 7918
NRSF mAbJurkat 23088722 23089044 322 12658
NRSF mAbJurkat 23089790 23090161 371 11565
NRSF mAbJurkat 23091340 23091775 435 9983
NRSF mAbJurkat 23093472 23094134 662 7738
NRSF mAbJurkat 23094929 23095428 499 6362
NRSF mAbJurkat 23095738 23096129 391 5607
NRSF mAbJurkat 23096466 23096642 176 4987
NRSF mAbJurkat 23097557 23097899 342 3813
NRSF mAbJurkat 23098251 23098882 631 2974
NRSF-mono JurkatQuESTdata 23093222 23094164 942 7848
NRSF pAbJurkat 23093472 23094134 662 7738
NRSF pAbJurkat 23094929 23095428 499 6362
NRSF-poly JurkatQuESTdata 23091409 23091747 338 9963
NRSF-poly JurkatQuESTdata 23093276 23094267 991 7769
TAF HelaGSE8489 23086571 23086761 190 14875
hScc1 BcellGSE12603 23101072 23101583 511 213
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 23136292 23136497 205 694
ER E2-MCF7GSE14664 23147520 23147591 71 11855
ER MCF7GSE19013 23145203 23145962 759 9882
Fos K562GSE19551 23146344 23146670 326 10807
Oct1 H2O2-HelaGSE14283 23154660 23154691 31 18975
Oct1 HelaGSE14283 23139223 23139250 27 3536
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER E2-MCF7GSE14664 23121836 23121881 45 0
ER Fulvestrant-MCF7GSE14664 23116197 23116237 40 0
FOXA1 MCF7GSE15244 23126044 23127241 1197 0
Oct1 H2O2-HelaGSE14283 23115321 23115357 36 0
Oct1 HelaGSE14283 23115322 23115356 34 0
Oct1 HelaGSE14283 23116196 23116234 38 0
TFAP2C MCF7GSE21234 23107651 23108430 779 0
TFAP2C MCF7GSE21234 23126169 23126901 732 0
hScc1 CdLSGSE12603 23101072 23102050 978 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
9739 mRNA SCNN1G chr16 23101540 23135701 18227 EST chr16 23113699 23131926 Non-exonic Bidirectional (NOB) 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