AutismKB 2.0

Annotation Detail for GEMIN5


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Basic Information Top
Gene Symbol:GEMIN5 ( DKFZp586M1824,MGC142174 )
Gene Full Name: gem (nuclear organelle) associated protein 5
Band: 5q33.2
Quick LinksEntrez ID:25929; OMIM: 607005; Uniprot ID:GEMI5_HUMAN; ENSEMBL ID: ENSG00000082516; HGNC ID: 20043
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
48Phosphoserine.
751Phosphothreonine.
770Phosphoserine.
778Phosphoserine.
807Phosphothreonine.
847Phosphoserine.
1363N6-acetyllysine.
1417Phosphoserine (By similarity).
Location(AA) Modifications Resource
778Phosphoserine.Swiss-Prot 53.0
778PhosphoserinePhospho.ELM 6.0
807Phosphothreonine.Swiss-Prot 53.0
1417Phosphoserine (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
34Phosphothreonine(PKC)HMM predict
48Phosphoserine(ATM)HMM predict
48O-linkedHMM predict
142N-linkedHMM predict
213Phosphoserine(CK1)HMM predict
219Phosphothreonine(CK2)HMM predict
220Phosphoserine(CK2)HMM predict
220Phosphoserine(CK1)HMM predict
322Phosphothreonine(PKA)HMM predict
327Phosphoserine(CK2)HMM predict
332N-linkedHMM predict
592Phosphoserine(ATM)HMM predict
620Phosphoserine(CK2)HMM predict
621Phosphoserine(CDC2)HMM predict
621Phosphoserine(CDK)HMM predict
624Phosphoserine(CDC2)HMM predict
699Phosphotyrosine(Syk)HMM predict
699SulfotyrosineHMM predict
726PhosphoserineHMM predict
735PhosphoserineHMM predict
735Phosphoserine(PKG)HMM predict
748Phosphothreonine(PKA)HMM predict
748Phosphothreonine(PKC)HMM predict
751Phosphothreonine(CDK)HMM predict
992Phosphotyrosine(Syk)HMM predict
1084Phosphoserine(CK1)HMM predict
1137PhosphoserineHMM predict
1144Phosphoserine(CK1)HMM predict
1193N-linkedHMM predict
1194N-linkedHMM predict
1195Phosphothreonine(MAPK)HMM predict
1237Phosphoserine(CDK)HMM predict
1267Phosphoserine(IKK)HMM predict
1267Phosphoserine(ATM)HMM predict
1267Phosphoserine(CDK)HMM predict
1298N-linkedHMM predict
1315Phosphoserine(ATM)HMM predict
1331Phosphoserine(ATM)HMM predict
1331Phosphoserine(CK1)HMM predict
1331O-linkedHMM predict
1373Phosphothreonine(PKC)HMM predict
1417Phosphoserine(IKK)HMM predict
1439Phosphothreonine(PKA)HMM predict
1495AsparagineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_015465
  • Location:chr5 154247963-154297885
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ETS1 JurkatGSE17954 154297402 154298454 1052 43
PHF8 HeLaGSE20725 154297151 154298636 1485 8
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 154248006 154248155 149 0
CTCF G2GSE9613 154252191 154252522 331 0
CTCF G2GSE9613 154297700 154298017 317 0
H3K4me2 HCT116GSE10453 154296663 154297418 755 0
H3K4me3 colorectalcancer 154296598 154297491 893 0
H3ac HepG2E 154295244 154295854 610 0
H3ac HepG2E 154296598 154297700 1102 0
KLF4 hESGSE17917 154253095 154253413 318 0
RARA MCF7GSE15244 154296802 154297527 725 0
Stat6 IL-4-hr1GSE17850 154260525 154261114 589 0
USF1 HepG2E 154296699 154297527 828 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-100 hsa-mir-100 11 11914277
hsa-miR-100* hsa-mir-100 11 11914277
hsa-miR-101 hsa-mir-101-1 1 11914277
hsa-miR-101 hsa-mir-101-2 9 11914277
hsa-miR-101* hsa-mir-101-1 1 11914277
hsa-miR-103 hsa-mir-103-2 20 11914277
hsa-miR-103 hsa-mir-103-1 5 11914277
hsa-miR-105 hsa-mir-105-1 X 11914277
hsa-miR-105 hsa-mir-105-2 X 11914277
hsa-miR-105* hsa-mir-105-1 X 11914277
hsa-miR-105* hsa-mir-105-2 X 11914277
hsa-miR-106a hsa-mir-106a X 11914277
hsa-miR-106a* hsa-mir-106a X 11914277
hsa-miR-107 hsa-mir-107 10 11914277
hsa-miR-16 hsa-mir-16-1 13 11914277
hsa-miR-16 hsa-mir-16-2 3 11914277
hsa-miR-16-1* hsa-mir-16-1 13 11914277
hsa-miR-16-2* hsa-mir-16-2 3 11914277
hsa-miR-17 hsa-mir-17 13 11914277
hsa-miR-17* hsa-mir-17 13 11914277
hsa-miR-18a hsa-mir-18a 13 11914277
hsa-miR-18a* hsa-mir-18a 13 11914277
hsa-miR-19a hsa-mir-19a 13 11914277
hsa-miR-19a* hsa-mir-19a 13 11914277
hsa-miR-19b hsa-mir-19b-1 13 11914277
hsa-miR-19b hsa-mir-19b-2 X 11914277
hsa-miR-19b-1* hsa-mir-19b-1 13 11914277
hsa-miR-19b-2* hsa-mir-19b-2 X 11914277
hsa-miR-21 hsa-mir-21 17 11914277
hsa-miR-21* hsa-mir-21 17 11914277
hsa-miR-22 hsa-mir-22 17 11914277
hsa-miR-22* hsa-mir-22 17 11914277
hsa-miR-23a hsa-mir-23a 19 11914277
hsa-miR-23a* hsa-mir-23a 19 11914277
hsa-miR-24 hsa-mir-24-1 9 11914277
hsa-miR-24 hsa-mir-24-2 19 11914277
hsa-miR-24-1* hsa-mir-24-1 9 11914277
hsa-miR-24-2* hsa-mir-24-2 19 11914277
hsa-miR-27a hsa-mir-27a 19 11914277
hsa-miR-27a* hsa-mir-27a 19 11914277
hsa-miR-29b hsa-mir-29b-1 7 11914277
hsa-miR-29b hsa-mir-29b-2 1 11914277
hsa-miR-29b-1* hsa-mir-29b-1 7 11914277
hsa-miR-29b-2* hsa-mir-29b-2 1 11914277
hsa-miR-30a hsa-mir-30a 6 11914277
hsa-miR-30a* hsa-mir-30a 6 11914277
hsa-miR-92a hsa-mir-92a-1 13 11914277
hsa-miR-92a hsa-mir-92a-2 X 11914277
hsa-miR-92a-1* hsa-mir-92a-1 13 11914277
hsa-miR-92a-2* hsa-mir-92a-2 X 11914277
hsa-miR-93 hsa-mir-93 7 11914277
hsa-miR-93* hsa-mir-93 7 11914277
hsa-miR-95 hsa-mir-95 4 11914277
hsa-miR-96 hsa-mir-96 7 11914277
hsa-miR-96* hsa-mir-96 7 11914277
hsa-miR-98 hsa-mir-98 X 11914277
hsa-miR-99a hsa-mir-99a 21 11914277
hsa-miR-99a* hsa-mir-99a 21 11914277
No data
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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