AutismKB 2.0

Annotation Detail for PROM1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:PROM1 ( AC133,CD133,CORD12,MCDR2,PROML1,RP41,STGD4 )
Gene Full Name: prominin 1
Band: 4p15.32
Quick LinksEntrez ID:8842; OMIM: 604365; Uniprot ID:PROM1_HUMAN; ENSEMBL ID: ENSG00000007062; HGNC ID: 9454
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
220N-linked (GlcNAc...) (Potential).
266Phosphothreonine.
274N-linked (GlcNAc...) (Potential).
275Phosphoserine.
276Phosphothreonine.
395N-linked (GlcNAc...) (Potential).
414N-linked (GlcNAc...) (Potential).
548N-linked (GlcNAc...) (Potential).
580N-linked (GlcNAc...) (Potential).
729N-linked (GlcNAc...) (Potential).
730N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
220N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
266Phosphothreonine.Swiss-Prot 53.0
266PhosphothreoninePhospho.ELM 6.0
274N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
275Phosphoserine.Swiss-Prot 53.0
275PhosphoserinePhospho.ELM 6.0
276PhosphothreoninePhospho.ELM 6.0
276Phosphothreonine.Swiss-Prot 53.0
395N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
414N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
548N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
580N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
729N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
730N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
14S-palmitoylHMM predict
19Phosphoserine(ATM)HMM predict
25Phosphoserine(IKK)HMM predict
41Phosphotyrosine(Syk)HMM predict
90Phosphotyrosine(INSR)HMM predict
90Phosphotyrosine(Syk)HMM predict
113S-palmitoylHMM predict
131S-palmitoylHMM predict
135S-palmitoylHMM predict
136S-palmitoylHMM predict
206N-linkedHMM predict
220N-linkedHMM predict
221Phosphothreonine(PKC)HMM predict
274N-linkedHMM predict
290Phosphoserine(CK1)HMM predict
293Phosphoserine(CK1)HMM predict
297Phosphoserine(IKK)HMM predict
324Phosphoserine(ATM)HMM predict
361Phosphotyrosine(EGFR)HMM predict
395N-linkedHMM predict
414N-linkedHMM predict
415N-linkedHMM predict
461S-palmitoylHMM predict
468Phosphothreonine(MAPK)HMM predict
548N-linkedHMM predict
580N-linkedHMM predict
586N-linkedHMM predict
641Phosphoserine(CDC2)HMM predict
729N-linkedHMM predict
730N-linkedHMM predict
753SulfotyrosineHMM predict
828Phosphotyrosine(EGFR)HMM predict
828Phosphotyrosine(SRC)HMM predict
828Phosphotyrosine(Syk)HMM predict
828PhosphotyrosineHMM predict
828SulfotyrosineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_006017
  • Location:chr4 15578954-15686663
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 15686722 15687080 358 238
CTCF G2GSE9613 15689591 15689958 367 3111
CTCF G2GSE9613 15693932 15694683 751 7644
ER Fulvestrant-MCF7GSE14664 15694137 15694175 38 7493
H3K4me3 colorectalcancer 15692337 15692900 563 5955
NFkBII GM12878GSE19485 15689349 15690603 1254 3313
Oct1 H2O2-HelaGSE14283 15694147 15694175 28 7498
Oct1 HelaGSE14283 15694113 15694177 64 7482
hScc1 BcellGSE12603 15693618 15694584 966 7438
hScc1 G2GSE9613 15693968 15694683 715 7662
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 15612175 15612430 255 0
CTCF CD4GSE12889 15636969 15637164 195 0
CTCF CD4SISSRdata 15612175 15612430 255 0
CTCF CD4SISSRdata 15636969 15637164 195 0
CTCF HelaGSE12889 15637025 15637188 163 0
CTCF G2GSE9613 15582149 15582421 272 0
CTCF G2GSE9613 15587392 15588065 673 0
CTCF G2GSE9613 15593407 15593725 318 0
CTCF G2GSE9613 15594222 15594393 171 0
CTCF G2GSE9613 15611624 15612728 1104 0
CTCF G2GSE9613 15616938 15617419 481 0
CTCF G2GSE9613 15618466 15618842 376 0
CTCF G2GSE9613 15631242 15631386 144 0
CTCF G2GSE9613 15635957 15637063 1106 0
CTCF G2GSE9613 15658425 15658695 270 0
CTCF G2GSE9613 15659623 15659830 207 0
CTCF G2GSE9613 15678541 15678883 342 0
CTCF G2GSE9613 15681312 15681567 255 0
ER MCF7GSE19013 15613189 15613825 636 0
ER MCF7GSE19013 15619409 15619837 428 0
FOXA1 MCF7GSE15244 15654198 15655416 1218 0
FOXA1 eGFPGSE10845 15654198 15655416 1218 0
Nanog hESGSE18292 15659857 15660148 291 0
Oct1 H2O2-HelaGSE14283 15652378 15652435 57 0
Oct1 H2O2-HelaGSE14283 15665762 15665792 30 0
Oct1 H2O2-HelaGSE14283 15686040 15686076 36 0
Oct1 HelaGSE14283 15652378 15652426 48 0
Oct1 HelaGSE14283 15686041 15686078 37 0
Sox2 hESGSE18292 15619804 15620049 245 0
TFAP2C MCF7GSE21234 15611948 15612403 455 0
USF1 HepG2E 15678196 15678847 651 0
hScc1 BcellGSE12603 15611876 15612552 676 0
hScc1 BcellGSE12603 15636025 15636159 134 0
hScc1 BcellGSE12603 15636911 15637247 336 0
hScc1 CdLSGSE12603 15611588 15612552 964 0
hScc1 CdLSGSE12603 15636780 15637377 597 0
hScc1 G2GSE9613 15611551 15612771 1220 0
hScc1 G2GSE9613 15635957 15636303 346 0
hScc1 G2GSE9613 15678580 15678883 303 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-100 hsa-mir-100 11 21109969
hsa-miR-100* hsa-mir-100 11 21109969
hsa-miR-10a hsa-mir-10a 17 18647411
hsa-miR-10a* hsa-mir-10a 17 18647411
hsa-miR-126 hsa-mir-126 9 18647411
hsa-miR-126* hsa-mir-126 9 18647411
hsa-miR-130b hsa-mir-130b 22 21112564
hsa-miR-130b* hsa-mir-130b 22 21112564
hsa-miR-140-3p hsa-mir-140 16 19734943
hsa-miR-140-5p hsa-mir-140 16 19734943
hsa-miR-142-3p hsa-mir-142 17 18647411
hsa-miR-142-3p hsa-mir-142 17 21394831
hsa-miR-148a hsa-mir-148a 7 18378853
hsa-miR-148a* hsa-mir-148a 7 18378853
hsa-miR-155 hsa-mir-155 21 21130073
hsa-miR-155* hsa-mir-155 21 21130073
hsa-miR-17 hsa-mir-17 13 18647411
hsa-miR-17* hsa-mir-17 13 18647411
hsa-miR-199b-3p hsa-mir-199b 9 19308264
hsa-miR-199b-5p hsa-mir-199b 9 19308264
hsa-miR-200b hsa-mir-200b 1 21363915
hsa-miR-200b* hsa-mir-200b 1 21363915
hsa-miR-200c hsa-mir-200c 12 21363915
hsa-miR-200c hsa-mir-200c 12 21109969
hsa-miR-200c* hsa-mir-200c 12 21363915
hsa-miR-200c* hsa-mir-200c 12 21109969
hsa-miR-204 hsa-mir-204 9 21109969
hsa-miR-205 hsa-mir-205 1 21363915
hsa-miR-206 hsa-mir-206 6 21109969
hsa-miR-21 hsa-mir-21 17 21274750
hsa-miR-21* hsa-mir-21 17 21274750
hsa-miR-221 hsa-mir-221 X 21076613
hsa-miR-221 hsa-mir-221 X 18647411
hsa-miR-221* hsa-mir-221 X 21076613
hsa-miR-221* hsa-mir-221 X 18647411
hsa-miR-223 hsa-mir-223 X 21109969
hsa-miR-223* hsa-mir-223 X 21109969
hsa-miR-29a hsa-mir-29a 7 21394831
hsa-miR-29a* hsa-mir-29a 7 21394831
hsa-miR-320d hsa-mir-320d-1 13 21130073
hsa-miR-320d hsa-mir-320d-2 X 21130073
hsa-miR-34a hsa-mir-34a 1 20424141
hsa-miR-34a hsa-mir-34a 1 19714243
hsa-miR-34a* hsa-mir-34a 1 20424141
hsa-miR-34a* hsa-mir-34a 1 19714243
hsa-miR-34b hsa-mir-34b 11 19714243
hsa-miR-34b* hsa-mir-34b 11 19714243
hsa-miR-34c-3p hsa-mir-34c 11 19714243
hsa-miR-34c-5p hsa-mir-34c 11 19714243
hsa-miR-425 hsa-mir-425 3 18765229
hsa-miR-425* hsa-mir-425 3 18765229
hsa-miR-429 hsa-mir-429 1 21130073
hsa-miR-451 hsa-mir-451 17 18765229
hsa-miR-486-3p hsa-mir-486 8 18765229
hsa-miR-486-5p hsa-mir-486 8 18765229
hsa-miR-9 hsa-mir-9-1 1 21109969
hsa-miR-9 hsa-mir-9-2 5 21109969
hsa-miR-9 hsa-mir-9-3 15 21109969
hsa-miR-92a hsa-mir-92a-1 13 18647411
hsa-miR-92a hsa-mir-92a-2 X 18647411
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