AutismKB 2.0

Annotation Detail for MMEL1


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Basic Information Top
Gene Symbol:MMEL1 ( MGC119454,MGC119455,MGC119456,MMEL2,NEP2,NEPII,NL1,NL2,SEP )
Gene Full Name: membrane metallo-endopeptidase-like 1
Band: 1p36.32
Quick LinksEntrez ID:79258; OMIM: NA; Uniprot ID:MMEL1_HUMAN; ENSEMBL ID: ENSG00000142606; HGNC ID: 14668
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
177N-linked (GlcNAc...) (Potential).
207N-linked (GlcNAc...) (Potential).
350N-linked (GlcNAc...) (Potential).
530N-linked (GlcNAc...) (Potential).
657N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
177N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
207N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
350N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
530N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
657N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
86O-linkedHMM predict
156N-linkedHMM predict
170Phosphothreonine(PKC)HMM predict
207N-linkedHMM predict
243N-linkedHMM predict
350N-linkedHMM predict
360Phosphoserine(CDC2)HMM predict
503Phosphoserine(CK1)HMM predict
513Phosphotyrosine(INSR)HMM predict
526Phosphotyrosine(INSR)HMM predict
576Phosphoserine(CDK)HMM predict
638N-linkedHMM predict
658SulfotyrosineHMM predict
768Phosphothreonine(CDK)HMM predict
768Phosphothreonine(PKA)HMM predict
776CysteineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
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
87 mRNA MGC26818 chr1 2550410 2555064 448 mRNA MELL1 chr1 2554242 2596591Sense/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