AutismKB 2.0

Annotation Detail for MUM1L1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:MUM1L1 ( FLJ33516,MGC129994,MGC129995 )
Gene Full Name: melanoma associated antigen (mutated) 1-like 1
Band: Xq22.3
Quick LinksEntrez ID:139221; OMIM: NA; Uniprot ID:MUML1_HUMAN; ENSEMBL ID: ENSG00000157502; HGNC ID: 26583
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
104Phosphoserine (By similarity).
128Phosphoserine (By similarity).
Location(AA) Modifications Resource
Location(AA) Modification Resource
36Phosphoserine(CK1)HMM predict
59N-linkedHMM predict
86Phosphotyrosine(EGFR)HMM predict
102N-linkedHMM predict
107Phosphoserine(CK2)HMM predict
108Phosphothreonine(CK2)HMM predict
109Phosphoserine(CK2)HMM predict
109Phosphoserine(CK2)HMM predict
109Phosphoserine(CK1)HMM predict
109Phosphoserine(ATM)HMM predict
109Phosphoserine(CK2)HMM predict
118Phosphoserine(ATM)HMM predict
128Phosphoserine(MAPK)HMM predict
128Phosphoserine(CDC2)HMM predict
128Phosphoserine(ATM)HMM predict
158Phosphoserine(CK2)HMM predict
163Phosphoserine(CK1)HMM predict
165Phosphotyrosine(INSR)HMM predict
165Phosphotyrosine(Syk)HMM predict
169PhosphoserineHMM predict
189N-linkedHMM predict
191Phosphoserine(IKK)HMM predict
241Phosphoserine(MAPK)HMM predict
241Phosphoserine(CDC2)HMM predict
241Phosphoserine(ATM)HMM predict
294Phosphoserine(ATM)HMM predict
335Phosphoserine(CK1)HMM predict
358Phosphoserine(IKK)HMM predict
421Phosphoserine(PKG)HMM predict
484Phosphoserine(IKK)HMM predict
536Phosphoserine(PKA)HMM predict
566Phosphothreonine(PKC)HMM predict
575N-linkedHMM predict
657Phosphotyrosine(INSR)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_152423
  • Location:chrX 105307974-105339603
  • strand:+
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct1 HelaGSE14283 105354070 105354101 31 14482
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER E2-MCF7GSE14664 105330848 105330886 38 0
ER E2-MCF7GSE14664 105331854 105331904 50 0
Oct1 HelaGSE14283 105320747 105320784 37 0
Oct1 HelaGSE14283 105330848 105330877 29 0
Oct1 HelaGSE14283 105331867 105331894 27 0
TAFII hESGSE17917 105307895 105308087 192 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