AutismKB 2.0

Annotation Detail for COL5A1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:COL5A1 ( - )
Gene Full Name: collagen, type V, alpha 1
Band: 9q34.3
Quick LinksEntrez ID:1289; OMIM: 120215; Uniprot ID:CO5A1_HUMAN; ENSEMBL ID: ENSG00000130635; HGNC ID: 2209
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
234Sulfotyrosine (Potential).
236Sulfotyrosine (Potential).
240Sulfotyrosine (Potential).
262Sulfotyrosine (Potential).
263Sulfotyrosine (Potential).
338Sulfotyrosine (Potential).
340Sulfotyrosine (Potential).
346Sulfotyrosine (Potential).
347Sulfotyrosine (Potential).
416Sulfotyrosine (Potential).
417Sulfotyrosine (Potential).
420Sulfotyrosine (Potential).
421Sulfotyrosine (Potential).
570Hydroxyproline.
576Hydroxyproline.
621Hydroxyproline.
6275-hydroxylysine.
639Hydroxyproline.
6425-hydroxylysine.
648Hydroxyproline.
654Hydroxyproline.
657Hydroxyproline.
675Hydroxyproline.
678Hydroxyproline.
680Hydroxyproline.
686Hydroxyproline.
690Hydroxyproline.
696Hydroxyproline.
705Hydroxyproline.
7085-hydroxylysine.
717Hydroxyproline.
720Hydroxyproline.
726Hydroxyproline.
732Hydroxyproline.
7445-hydroxylysine.
750Hydroxyproline.
756Hydroxyproline.
762Hydroxyproline.
765Hydroxyproline.
771Hydroxyproline.
7745-hydroxylysine.
780Hydroxyproline.
789Hydroxyproline.
7955-hydroxylysine.
8045-hydroxylysine.
8075-hydroxylysine.
8105-hydroxylysine.
816Hydroxyproline.
8195-hydroxylysine.
834Hydroxyproline.
8465-hydroxylysine.
861Hydroxyproline.
8645-hydroxylysine.
870Hydroxyproline.
873Hydroxyproline.
876Hydroxyproline.
8825-hydroxylysine.
888Hydroxyproline.
891Hydroxyproline.
8975-hydroxylysine.
903Hydroxyproline.
906Hydroxyproline.
930Hydroxyproline.
945Hydroxyproline.
1017Hydroxyproline.
1020Hydroxyproline.
1023Hydroxyproline.
1029Hydroxyproline.
1221Hydroxyproline.
1224Hydroxyproline.
1467Hydroxyproline.
1470Hydroxyproline.
1601Sulfotyrosine (Potential).
1604Sulfotyrosine (Potential).
Location(AA) Modifications Resource
234Sulfotyrosine (Potential).Swiss-Prot 53.0
236Sulfotyrosine (Potential).Swiss-Prot 53.0
240Sulfotyrosine (Potential).Swiss-Prot 53.0
262Sulfotyrosine (Potential).Swiss-Prot 53.0
263Sulfotyrosine (Potential).Swiss-Prot 53.0
338Sulfotyrosine (Potential).Swiss-Prot 53.0
340Sulfotyrosine (Potential).Swiss-Prot 53.0
346Sulfotyrosine (Potential).Swiss-Prot 53.0
347Sulfotyrosine (Potential).Swiss-Prot 53.0
416Sulfotyrosine (Potential).Swiss-Prot 53.0
417Sulfotyrosine (Potential).Swiss-Prot 53.0
420Sulfotyrosine (Potential).Swiss-Prot 53.0
421Sulfotyrosine (Potential).Swiss-Prot 53.0
570Hydroxyproline.Swiss-Prot 53.0
576Hydroxyproline.Swiss-Prot 53.0
621Hydroxyproline.Swiss-Prot 53.0
6275-hydroxylysine.Swiss-Prot 53.0
639Hydroxyproline.Swiss-Prot 53.0
6425-hydroxylysine.Swiss-Prot 53.0
648Hydroxyproline.Swiss-Prot 53.0
654Hydroxyproline.Swiss-Prot 53.0
657Hydroxyproline.Swiss-Prot 53.0
675Hydroxyproline.Swiss-Prot 53.0
678Hydroxyproline.Swiss-Prot 53.0
680Hydroxyproline.Swiss-Prot 53.0
686Hydroxyproline.Swiss-Prot 53.0
690Hydroxyproline.Swiss-Prot 53.0
696Hydroxyproline.Swiss-Prot 53.0
705Hydroxyproline.Swiss-Prot 53.0
7085-hydroxylysine.Swiss-Prot 53.0
717Hydroxyproline.Swiss-Prot 53.0
720Hydroxyproline.Swiss-Prot 53.0
726Hydroxyproline.Swiss-Prot 53.0
732Hydroxyproline.Swiss-Prot 53.0
7445-hydroxylysine.Swiss-Prot 53.0
750Hydroxyproline.Swiss-Prot 53.0
756Hydroxyproline.Swiss-Prot 53.0
762Hydroxyproline.Swiss-Prot 53.0
765Hydroxyproline.Swiss-Prot 53.0
771Hydroxyproline.Swiss-Prot 53.0
7745-hydroxylysine.Swiss-Prot 53.0
780Hydroxyproline.Swiss-Prot 53.0
789Hydroxyproline.Swiss-Prot 53.0
7955-hydroxylysine.Swiss-Prot 53.0
8045-hydroxylysine.Swiss-Prot 53.0
8075-hydroxylysine.Swiss-Prot 53.0
8105-hydroxylysine.Swiss-Prot 53.0
816Hydroxyproline.Swiss-Prot 53.0
8195-hydroxylysine.Swiss-Prot 53.0
834Hydroxyproline.Swiss-Prot 53.0
8465-hydroxylysine.Swiss-Prot 53.0
861Hydroxyproline.Swiss-Prot 53.0
8645-hydroxylysine.Swiss-Prot 53.0
870Hydroxyproline.Swiss-Prot 53.0
873Hydroxyproline.Swiss-Prot 53.0
876Hydroxyproline.Swiss-Prot 53.0
8825-hydroxylysine.Swiss-Prot 53.0
888Hydroxyproline.Swiss-Prot 53.0
891Hydroxyproline.Swiss-Prot 53.0
8975-hydroxylysine.Swiss-Prot 53.0
903Hydroxyproline.Swiss-Prot 53.0
906Hydroxyproline.Swiss-Prot 53.0
930Hydroxyproline.Swiss-Prot 53.0
945Hydroxyproline.Swiss-Prot 53.0
1017Hydroxyproline.Swiss-Prot 53.0
1020Hydroxyproline.Swiss-Prot 53.0
1023Hydroxyproline.Swiss-Prot 53.0
1029Hydroxyproline.Swiss-Prot 53.0
1221Hydroxyproline.Swiss-Prot 53.0
1224Hydroxyproline.Swiss-Prot 53.0
1467Hydroxyproline.Swiss-Prot 53.0
1470Hydroxyproline.Swiss-Prot 53.0
1601Sulfotyrosine (Potential).Swiss-Prot 53.0
1604Sulfotyrosine (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
34O-linkedHMM predict
67Phosphoserine(PKA)HMM predict
67Phosphoserine(PKC)HMM predict
68Phosphoserine(PKG)HMM predict
135Phosphoserine(CDC2)HMM predict
176N-linkedHMM predict
178Phosphothreonine(PKA)HMM predict
187Phosphothreonine(PKA)HMM predict
194Phosphoserine(ATM)HMM predict
251Phosphothreonine(CDC2)HMM predict
251Phosphothreonine(MAPK)HMM predict
251Phosphothreonine(CDK)HMM predict
254Phosphoserine(ATM)HMM predict
262SulfotyrosineHMM predict
263SulfotyrosineHMM predict
274Phosphotyrosine(Syk)HMM predict
275SulfotyrosineHMM predict
280Phosphotyrosine(Syk)HMM predict
291Phosphothreonine(CDC2)HMM predict
291Phosphothreonine(MAPK)HMM predict
291Phosphothreonine(CDK)HMM predict
293O-linkedHMM predict
311Phosphothreonine(MAPK)HMM predict
340Phosphotyrosine(EGFR)HMM predict
340Phosphotyrosine(Jak)HMM predict
346Phosphotyrosine(INSR)HMM predict
346Phosphotyrosine(Syk)HMM predict
347Phosphotyrosine(Syk)HMM predict
347SulfotyrosineHMM predict
357Phosphotyrosine(INSR)HMM predict
357SulfotyrosineHMM predict
378O-linkedHMM predict
379O-linkedHMM predict
379O-linkedHMM predict
380O-linkedHMM predict
384O-linkedHMM predict
384Phosphoserine(IKK)HMM predict
385N-linkedHMM predict
386O-linkedHMM predict
388N-linkedHMM predict
416Phosphotyrosine(Syk)HMM predict
416SulfotyrosineHMM predict
417Phosphotyrosine(Syk)HMM predict
417SulfotyrosineHMM predict
420Phosphotyrosine(Syk)HMM predict
421Phosphotyrosine(Syk)HMM predict
421SulfotyrosineHMM predict
424O-linkedHMM predict
426Phosphoserine(CDC2)HMM predict
426Phosphoserine(ATM)HMM predict
442Phosphotyrosine(Syk)HMM predict
452O-linkedHMM predict
455O-linkedHMM predict
489O-linkedHMM predict
503MethylarginineHMM predict
567O-linkedHMM predict
582O-linkedHMM predict
594MethylarginineHMM predict
609MethylarginineHMM predict
611MethylarginineHMM predict
624O-linkedHMM predict
627O-linkedHMM predict
642O-linkedHMM predict
651O-linkedHMM predict
651O-linkedHMM predict
681MethylarginineHMM predict
687O-linkedHMM predict
699O-linkedHMM predict
708O-linkedHMM predict
744O-linkedHMM predict
774O-linkedHMM predict
795O-linkedHMM predict
804O-linkedHMM predict
806O-linkedHMM predict
807O-linkedHMM predict
810O-linkedHMM predict
819O-linkedHMM predict
825O-linkedHMM predict
837MethylarginineHMM predict
846O-linkedHMM predict
848MethylarginineHMM predict
864O-linkedHMM predict
866O-linkedHMM predict
878MethylarginineHMM predict
882O-linkedHMM predict
884O-linkedHMM predict
897O-linkedHMM predict
900MethylarginineHMM predict
902Phosphothreonine(CDC2)HMM predict
902Phosphothreonine(CDK)HMM predict
909MethylarginineHMM predict
915O-linkedHMM predict
918MethylarginineHMM predict
927O-linkedHMM predict
933O-linkedHMM predict
936O-linkedHMM predict
957O-linkedHMM predict
963O-linkedHMM predict
981MethylarginineHMM predict
984O-linkedHMM predict
990O-linkedHMM predict
1005O-linkedHMM predict
1008O-linkedHMM predict
1014MethylarginineHMM predict
1037O-linkedHMM predict
1038O-linkedHMM predict
1056MethylarginineHMM predict
1062MethylarginineHMM predict
1074O-linkedHMM predict
1088O-linkedHMM predict
1088Phosphoserine(CDC2)HMM predict
1106MethylarginineHMM predict
1119O-linkedHMM predict
1125O-linkedHMM predict
1133MethylarginineHMM predict
1158O-linkedHMM predict
1167O-linkedHMM predict
1169O-linkedHMM predict
1170O-linkedHMM predict
1173O-linkedHMM predict
1182O-linkedHMM predict
1194O-linkedHMM predict
1194O-linkedHMM predict
1212O-linkedHMM predict
1239O-linkedHMM predict
1242O-linkedHMM predict
1257MethylarginineHMM predict
1260O-linkedHMM predict
1260O-linkedHMM predict
1260Phosphoserine(PKB)HMM predict
1284O-linkedHMM predict
1305O-linkedHMM predict
1311O-linkedHMM predict
1314O-linkedHMM predict
1317O-linkedHMM predict
1317O-linkedHMM predict
1326O-linkedHMM predict
1335O-linkedHMM predict
1337O-linkedHMM predict
1337Phosphoserine(CDC2)HMM predict
1365O-linkedHMM predict
1374O-linkedHMM predict
1374O-linkedHMM predict
1376O-linkedHMM predict
1376Phosphoserine(CDC2)HMM predict
1376Phosphoserine(IKK)HMM predict
1380O-linkedHMM predict
1380O-linkedHMM predict
1380O-linkedHMM predict
1386O-linkedHMM predict
1386O-linkedHMM predict
1386Phosphoserine(ATM)HMM predict
1403MethylarginineHMM predict
1407O-linkedHMM predict
1410O-linkedHMM predict
1454O-linkedHMM predict
1454Phosphoserine(CDC2)HMM predict
1454Phosphoserine(ATM)HMM predict
1473O-linkedHMM predict
1476O-linkedHMM predict
1479O-linkedHMM predict
1482O-linkedHMM predict
1500O-linkedHMM predict
1503MethylarginineHMM predict
1512O-linkedHMM predict
1515O-linkedHMM predict
1521O-linkedHMM predict
1524O-linkedHMM predict
1524O-linkedHMM predict
1542O-linkedHMM predict
1545O-linkedHMM predict
1547O-linkedHMM predict
1547O-linkedHMM predict
1551O-linkedHMM predict
1554O-linkedHMM predict
1583Phosphothreonine(PKC)HMM predict
1601Phosphotyrosine(INSR)HMM predict
1601SulfotyrosineHMM predict
1604SulfotyrosineHMM predict
1672N-linkedHMM predict
1694Phosphoserine(PKB)HMM predict
1741N-linkedHMM predict
1835S-farnesylHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000093
  • Location:chr9 136673472-136876506
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3K27me3 colorectalcancer 136671884 136672400 516 1331
KLF4 hESGSE17917 136667753 136667950 197 5621
P300 T30-glioblastomaGSE21026 136656117 136657156 1039 16836
TFAP2C MCF7GSE21234 136656416 136657093 677 16718
TFAP2C MCF7GSE21234 136658087 136658571 484 15144
p130 SenescentGSE19898 136656469 136656839 370 16819
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
GABP k562GSE8489 136880407 136882541 2134 4968
NFkBII GM15510GSE19485 136889374 136890826 1452 13594
P300 T30-glioblastomaGSE21026 136890022 136890771 749 13890
hScc1 BcellGSE12603 136880707 136882541 1834 5118
hScc1 BcellGSE12603 136889652 136890467 815 13553
hScc1 CdLSGSE12603 136889652 136890668 1016 13654
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 136738575 136739356 781 0
CTCF CD4GSE12889 136721346 136721507 161 0
CTCF CD4GSE12889 136730259 136730473 214 0
CTCF CD4GSE12889 136770795 136771107 312 0
CTCF CD4SISSRdata 136721346 136721507 161 0
CTCF CD4SISSRdata 136730259 136730473 214 0
CTCF CD4SISSRdata 136770795 136771107 312 0
CTCF HelaGSE12889 136721316 136721507 191 0
CTCF JurkatGSE12889 136730248 136730452 204 0
ER MCF7GSE19013 136724672 136725192 520 0
FOXA1 MCF7GSE15244 136708000 136708853 853 0
FOXA1 MCF7GSE15244 136807175 136808297 1122 0
FOXA1 MCF7GSE15244 136839272 136840031 759 0
Fos K562GSE19551 136676275 136676723 448 0
GABP k562GSE8489 136701108 136701403 295 0
IGF1R DFBGSE23792 136786411 136786765 354 0
NRSF mAbJurkat 136742172 136742862 690 0
Oct4 ESGSE20650 136761082 136761314 232 0
Rb GrowingGSE19898 136693527 136693743 216 0
Rb GrowingGSE19898 136695587 136695779 192 0
Rb QuiescentGSE19898 136674934 136675135 201 0
Rb QuiescentGSE19898 136721632 136721758 126 0
Rb SenescentGSE19898 136693438 136693926 488 0
Rb shRbQuiescentGSE19898 136711658 136711967 309 0
Rb shRbQuiescentGSE19898 136770863 136771108 245 0
Rb shRbSenescenceGSE19898 136693498 136693775 277 0
SRF GMOGSE8489 136686329 136686509 180 0
STAT1 IFNSISSRdata 136734384 136735320 936 0
TAF HelaGSE8489 136707742 136708353 611 0
TAF k562GSE8489 136707742 136708588 846 0
TFAP2C MCF7GSE21234 136693589 136694555 966 0
TFAP2C MCF7GSE21234 136701623 136702430 807 0
TFAP2C MCF7GSE21234 136733866 136735276 1410 0
TFAP2C MCF7GSE21234 136762102 136762697 595 0
TFAP2C MCF7GSE21234 136807386 136808233 847 0
TFAP2C MCF7GSE21234 136810356 136811717 1361 0
TFAP2C MCF7GSE21234 136828787 136829230 443 0
TFAP2C MCF7GSE21234 136832316 136832964 648 0
TFAP2C MCF7GSE21234 136833948 136834578 630 0
hScc1 BcellGSE12603 136673103 136674072 969 0
hScc1 BcellGSE12603 136675921 136676264 343 0
hScc1 BcellGSE12603 136693355 136693631 276 0
hScc1 BcellGSE12603 136729801 136730847 1046 0
hScc1 BcellGSE12603 136732302 136732865 563 0
hScc1 BcellGSE12603 136748903 136749311 408 0
hScc1 BcellGSE12603 136760976 136761142 166 0
hScc1 BcellGSE12603 136859254 136860077 823 0
hScc1 BcellGSE12603 136866774 136866985 211 0
hScc1 CdLSGSE12603 136730081 136730810 729 0
hScc1 G2GSE9613 136675883 136676333 450 0
p130 QuiescentGSE19898 136701781 136702021 240 0
p130 QuiescentGSE19898 136738909 136739116 207 0
p130 SenescentGSE19898 136693568 136693723 155 0
p130 shRbQuiescentGSE19898 136674253 136674676 423 0
p130 shRbQuiescentGSE19898 136674764 136675282 518 0
p130 shRbQuiescentGSE19898 136693558 136694024 466 0
p130 shRbQuiescentGSE19898 136738423 136738944 521 0
p130 shRbQuiescentGSE19898 136840248 136840593 345 0
p130 shRbSenescentGSE19898 136674362 136674777 415 0
p130 shRbSenescentGSE19898 136693839 136694241 402 0
p130 shRbSenescentGSE19898 136843523 136843695 172 0
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
27182 mRNA COL5A1 chr9 134759596 134960684 215 EST chr9 134937210 134942511Sense/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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