AutismKB 2.0

Annotation Detail for NDUFV2


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Basic Information Top
Gene Symbol:NDUFV2 ( CI-24k )
Gene Full Name: NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa
Band: 18p11.22
Quick LinksEntrez ID:4729; OMIM: 600532; Uniprot ID:NDUV2_HUMAN; ENSEMBL ID: ENSG00000178127; HGNC ID: 7717
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
44Phosphothreonine(PKA)HMM predict
44Phosphothreonine(MAPK)HMM predict
60Phosphotyrosine(INSR)HMM predict
136O-linkedHMM predict
164Phosphothreonine(MAPK)HMM predict
193Phosphotyrosine(EGFR)HMM predict
193Phosphotyrosine(Syk)HMM predict
193SulfotyrosineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_021074
  • Location:chr18 9092724-9124335
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER Fulvestrant-MCF7GSE14664 9080601 9080635 34 12107
FoxA1 MCF7MACSdata 9082630 9082927 297 9946
H3ac HepG2E 9091528 9092418 890 752
Oct1 HelaGSE14283 9080602 9080631 29 12108
Oct4 hESGSE17917 9092394 9092911 517 72
PHF8 HeLaGSE20725 9091909 9093297 1388 122
TAF HelaGSE8489 9091897 9092301 404 626
hScc1 BcellGSE12603 9092377 9092982 605 45
p130 QuiescentGSE19898 9084418 9084666 248 8183
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3K4me2 HCT116GSE10453 9094045 9094441 396 0
H3K4me3 colorectalcancer 9093249 9093572 323 0
H3K4me3 colorectalcancer 9093974 9094478 504 0
H3ac HepG2E 9093063 9093572 509 0
H3ac HepG2E 9093974 9094621 647 0
Myc K562GSE19551 9092237 9093343 1106 0
Myc hESGSE17917 9092545 9092905 360 0
Oct1 HelaGSE14283 9094078 9094114 36 0
P300 T30-glioblastomaGSE21026 9106942 9107754 812 0
hScc1 BcellGSE12603 9093320 9093535 215 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
11910 mRNA NDUFV2 chr18 9092724 9124336 13074 EST chr18 9111262 9126643 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