AutismKB 2.0

Annotation Detail for COL5A3


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Basic Information Top
Gene Symbol:COL5A3 ( - )
Gene Full Name: collagen, type V, alpha 3
Band: 19p13.2
Quick LinksEntrez ID:50509; OMIM: 120216; Uniprot ID:CO5A3_HUMAN; ENSEMBL ID: ENSG00000080573; HGNC ID: 14864
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
102N-linked (GlcNAc...).
141N-linked (GlcNAc...).
718Phosphoserine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
141N-linkedHMM predict
207Phosphoserine(CDC2)HMM predict
207Phosphoserine(MAPK)HMM predict
207Phosphoserine(CDK)HMM predict
241Phosphothreonine(CDC2)HMM predict
241Phosphothreonine(MAPK)HMM predict
257MethylarginineHMM predict
274O-linkedHMM predict
282N-linkedHMM predict
291O-linkedHMM predict
293Phosphothreonine(CDC2)HMM predict
293Phosphothreonine(MAPK)HMM predict
301O-linkedHMM predict
301Phosphothreonine(MAPK)HMM predict
308O-linkedHMM predict
309O-linkedHMM predict
312O-linkedHMM predict
313O-linkedHMM predict
316N-linkedHMM predict
375O-linkedHMM predict
378O-linkedHMM predict
406O-linkedHMM predict
406O-linkedHMM predict
460Phosphoserine(CDK)HMM predict
487O-linkedHMM predict
502O-linkedHMM predict
514MethylarginineHMM predict
544O-linkedHMM predict
547O-linkedHMM predict
550MethylarginineHMM predict
562O-linkedHMM predict
592O-linkedHMM predict
592O-linkedHMM predict
601MethylarginineHMM predict
609O-linkedHMM predict
609Phosphoserine(CDC2)HMM predict
613O-linkedHMM predict
613O-linkedHMM predict
619O-linkedHMM predict
628O-linkedHMM predict
648Phosphoserine(ATM)HMM predict
664O-linkedHMM predict
691O-linkedHMM predict
694O-linkedHMM predict
702O-linkedHMM predict
712MethylarginineHMM predict
715O-linkedHMM predict
717O-linkedHMM predict
718O-linkedHMM predict
727O-linkedHMM predict
730O-linkedHMM predict
739O-linkedHMM predict
745O-linkedHMM predict
757MethylarginineHMM predict
766O-linkedHMM predict
784O-linkedHMM predict
802O-linkedHMM predict
804O-linkedHMM predict
817O-linkedHMM predict
819O-linkedHMM predict
820O-linkedHMM predict
837O-linkedHMM predict
838MethylarginineHMM predict
847O-linkedHMM predict
853O-linkedHMM predict
868O-linkedHMM predict
883O-linkedHMM predict
901MethylarginineHMM predict
958O-linkedHMM predict
976MethylarginineHMM predict
982O-linkedHMM predict
991O-linkedHMM predict
994O-linkedHMM predict
997O-linkedHMM predict
1006N-linkedHMM predict
1029O-linkedHMM predict
1038O-linkedHMM predict
1039O-linkedHMM predict
1041O-linkedHMM predict
1042MethylarginineHMM predict
1051O-linkedHMM predict
1072O-linkedHMM predict
1078O-linkedHMM predict
1087O-linkedHMM predict
1089O-linkedHMM predict
1090O-linkedHMM predict
1093O-linkedHMM predict
1132O-linkedHMM predict
1159O-linkedHMM predict
1183O-linkedHMM predict
1185O-linkedHMM predict
1204O-linkedHMM predict
1225O-linkedHMM predict
1231O-linkedHMM predict
1234O-linkedHMM predict
1237O-linkedHMM predict
1237O-linkedHMM predict
1245O-linkedHMM predict
1246O-linkedHMM predict
1255O-linkedHMM predict
1257O-linkedHMM predict
1261O-linkedHMM predict
1276O-linkedHMM predict
1276O-linkedHMM predict
1285O-linkedHMM predict
1300O-linkedHMM predict
1300O-linkedHMM predict
1312MethylarginineHMM predict
1315O-linkedHMM predict
1327O-linkedHMM predict
1330O-linkedHMM predict
1341MethylarginineHMM predict
1342O-linkedHMM predict
1387O-linkedHMM predict
1393O-linkedHMM predict
1396O-linkedHMM predict
1399O-linkedHMM predict
1402O-linkedHMM predict
1420O-linkedHMM predict
1435O-linkedHMM predict
1446O-linkedHMM predict
1462O-linkedHMM predict
1464O-linkedHMM predict
1465O-linkedHMM predict
1467Phosphoserine(CDC2)HMM predict
1467Phosphoserine(IKK)HMM predict
1467PhosphoserineHMM predict
1477O-linkedHMM predict
1522Phosphoserine(MAPK)HMM predict
1577N-linkedHMM predict
1620Phosphotyrosine(Jak)HMM predict
1646N-linkedHMM predict
1665SulfotyrosineHMM predict
1682N-linkedHMM predict
1684O-linkedHMM predict
1685O-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_015719
  • Location:chr19 9931236-9982146
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
NRSF mAbJurkat 9982850 9983253 403 905
Oct1 H2O2-HelaGSE14283 9983286 9983324 38 1159
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
TFAP2C MCF7GSE21234 9930411 9930796 385 633
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T0-glioblastomaGSE21026 9936532 9936954 422 0
CTCF CD4GSE12889 9971912 9972144 232 0
CTCF CD4SISSRdata 9971912 9972144 232 0
CTCF JurkatGSE12889 9971856 9972160 304 0
CTCF G2GSE9613 9972035 9972396 361 0
CTCF G2GSE9613 9973509 9973850 341 0
GABP k562GSE8489 9952324 9952681 357 0
GABP k562GSE8489 9973153 9973509 356 0
GABP k562GSE8489 9974052 9975403 1351 0
GABP k562GSE8489 9976353 9976725 372 0
H3K27me3 colorectalcancer 9978312 9979247 935 0
H3K27me3 colorectalcancer 9979910 9980958 1048 0
NRSF JurkatGSE13047 9980014 9982526 2512 0
NRSF mAbJurkat 9973153 9973324 171 0
NRSF mAbJurkat 9974184 9975403 1219 0
NRSF mAbJurkat 9976313 9976725 412 0
NRSF mAbJurkat 9977970 9979146 1176 0
NRSF mAbJurkat 9979564 9982011 2447 0
NRSF-mono JurkatQuESTdata 9980026 9982416 2390 0
NRSF-poly JurkatQuESTdata 9980585 9981932 1347 0
Oct1 H2O2-HelaGSE14283 9937448 9937478 30 0
Rb QuiescentGSE19898 9980500 9980844 344 0
TAF k562GSE8489 9947072 9947491 419 0
hScc1 BcellGSE12603 9972035 9972464 429 0
hScc1 BcellGSE12603 9978006 9978312 306 0
hScc1 BcellGSE12603 9981604 9982011 407 0
hScc1 CdLSGSE12603 9972035 9972396 361 0
p130 QuiescentGSE19898 9979267 9979445 178 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-let-7a hsa-let-7a-1 9 19342382
hsa-let-7a hsa-let-7a-2 11 19342382
hsa-let-7a hsa-let-7a-3 22 19342382
hsa-let-7a* hsa-let-7a-1 9 19342382
hsa-let-7a* hsa-let-7a-3 22 19342382
hsa-let-7b hsa-let-7b 22 19342382
hsa-let-7b* hsa-let-7b 22 19342382
hsa-let-7c hsa-let-7c 21 19342382
hsa-let-7c* hsa-let-7c 21 19342382
hsa-let-7d hsa-let-7d 9 19342382
hsa-let-7d* hsa-let-7d 9 19342382
hsa-let-7e hsa-let-7e 19 19342382
hsa-let-7e* hsa-let-7e 19 19342382
hsa-let-7f hsa-let-7f-1 9 19342382
hsa-let-7f hsa-let-7f-2 X 19342382
hsa-let-7f-1* hsa-let-7f-1 9 19342382
hsa-let-7f-2* hsa-let-7f-2 X 19342382
hsa-let-7g hsa-let-7g 3 19342382
hsa-let-7g* hsa-let-7g 3 19342382
hsa-let-7i hsa-let-7i 12 19342382
hsa-let-7i* hsa-let-7i 12 19342382
hsa-miR-26a hsa-mir-26a-1 3 19342382
hsa-miR-26a hsa-mir-26a-2 12 19342382
hsa-miR-26a-1* hsa-mir-26a-1 3 19342382
hsa-miR-26a-2* hsa-mir-26a-2 12 19342382
hsa-miR-26b hsa-mir-26b 2 19342382
hsa-miR-26b* hsa-mir-26b 2 19342382
hsa-miR-27b hsa-mir-27b 9 19342382
hsa-miR-27b* hsa-mir-27b 9 19342382
hsa-miR-29a hsa-mir-29a 7 19342382
hsa-miR-29a* hsa-mir-29a 7 19342382
hsa-miR-29b hsa-mir-29b-1 7 19342382
hsa-miR-29b hsa-mir-29b-2 1 19342382
hsa-miR-29b-1* hsa-mir-29b-1 7 19342382
hsa-miR-29b-2* hsa-mir-29b-2 1 19342382
hsa-miR-29c hsa-mir-29c 1 19342382
hsa-miR-29c* hsa-mir-29c 1 19342382
No data
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
12676 mRNA chr19 9967672 9968835 270 mRNA COL5A3 chr19 9931236 9982147Sense/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


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